Variant report

Variant	esv3405334
Chromosome Location	chr7:27208052-27210600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:1038)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:27209270-27209470	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:27209166-27209523	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr7:27208759-27209950	Hela-S3	cervix:	n/a	n/a
4	CTBP2	chr7:27208042-27210020	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:27209746-27209852	Hela-S3	cervix:	n/a	chr7:27209805-27209818
6	CTCF	chr7:27208200-27208350	NHEK	skin:	n/a	n/a
7	CTCF	chr7:27208100-27208250	GM12869	blood:	n/a	n/a
8	CTCF	chr7:27208140-27208290	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr7:27208120-27208270	BJ	skin:	n/a	n/a
10	CTCF	chr7:27207980-27208130	HFF	foreskin:	n/a	n/a
11	CTCF	chr7:27208123-27208302	GM19238	blood:	n/a	n/a
12	CTCF	chr7:27209960-27210110	A549	lung:	n/a	n/a
13	CTCF	chr7:27208140-27208290	BJ	skin:	n/a	n/a
14	CTCF	chr7:27208200-27208350	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr7:27208120-27208270	HEK293	kidney:	n/a	n/a
16	CTCF	chr7:27208420-27208570	RPTEC	kidney:	n/a	n/a
17	CTCF	chr7:27208137-27208315	GM12891	blood:	n/a	n/a
18	CTCF	chr7:27208100-27208250	GM12867	blood:	n/a	n/a
19	CTCF	chr7:27208156-27208293	GM12878	blood:	n/a	n/a
20	CTCF	chr7:27208440-27208590	HVMF	connective:	n/a	n/a
21	CTCF	chr7:27208174-27208281	GM19240	blood:	n/a	n/a
22	CTCF	chr7:27208160-27208310	HRE	kidney:	n/a	n/a
23	CTCF	chr7:27208160-27208310	GM12871	blood:	n/a	n/a
24	CTCF	chr7:27208160-27208310	HCT-116	colon:	n/a	n/a
25	CTCF	chr7:27208480-27208630	AG10803	skin:	n/a	n/a
26	CTCF	chr7:27208138-27208276	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr7:27208118-27208316	NHEK	skin:	n/a	n/a
28	CTCF	chr7:27208184-27208188	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr7:27208140-27208290	HMF	breast:	n/a	n/a
30	CTCF	chr7:27208140-27208290	RPTEC	kidney:	n/a	n/a
31	CTCF	chr7:27208100-27208250	K562	blood:	n/a	n/a
32	CTCF	chr7:27208140-27208290	HVMF	connective:	n/a	n/a
33	CTCF	chr7:27208280-27208430	GM12869	blood:	n/a	n/a
34	CTCF	chr7:27208065-27208344	GM12892	blood:	n/a	n/a
35	CTCF	chr7:27208140-27208290	HEK293	kidney:	n/a	n/a
36	CTCF	chr7:27208160-27208310	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr7:27208140-27208290	NHEK	skin:	n/a	n/a
38	CTCF	chr7:27208120-27208270	AG04449	skin:	n/a	n/a
39	CTCF	chr7:27208180-27208330	HVMF	connective:	n/a	n/a
40	CTCF	chr7:27208120-27208270	AG10803	skin:	n/a	n/a
41	CTCF	chr7:27208198-27208226	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr7:27208160-27208310	GM12872	blood:	n/a	n/a
43	CTCF	chr7:27209720-27209870	HEK293	kidney:	n/a	chr7:27209731-27209744 chr7:27209805-27209818 chr7:27209734-27209747
44	CTCF	chr7:27209380-27209530	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:27208179-27208305	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:27209360-27209510	Caco-2	colon:	n/a	n/a
47	CTCF	chr7:27208200-27208350	RPTEC	kidney:	n/a	n/a
48	CTCF	chr7:27208108-27208286	GM12878	blood:	n/a	n/a
49	CTCF	chr7:27209660-27209810	AG04449	skin:	n/a	chr7:27209731-27209744 chr7:27209734-27209747
50	CTCF	chr7:27208219-27208250	ProgFib	skin:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27208887-27208937	AG04450	lung:	fetal
2	chr7:27208887-27208937	AG04450	lung:	fetal
3	chr7:27208885-27208935	AG04449	skin:	fetal
4	chr7:27208885-27208935	SK-N-SH_RA	brain:	n/a
5	chr7:27209582-27209632	CMK	blood:	n/a
6	chr7:27208188-27208238	HUVEC	blood vessel:	n/a
7	chr7:27209582-27209632	HL-60	blood:	n/a
8	chr7:27209350-27209400	HepG2	liver:	n/a
9	chr7:27209338-27209388	HCF	heart:	n/a
10	chr7:27209463-27209513	H1-hESC	embryonic stem cell:	embryo
11	chr7:27209463-27209513	MCF10A-Er-Src	breast:	n/a
12	chr7:27209463-27209513	ECC-1	luminal epithelium:	n/a
13	chr7:27208285-27208335	AG09319	gingival:	n/a
14	chr7:27208188-27208238	Hepatocyte	liver:	n/a
15	chr7:27209131-27209181	HMEC	breast:	n/a
16	chr7:27208285-27208335	Jurkat	blood:	n/a
17	chr7:27208885-27208935	HEK293	kidney:	embryo
18	chr7:27209463-27209513	GM19239	blood:	n/a
19	chr7:27209131-27209181	U87	brain:	n/a
20	chr7:27209338-27209388	SAEC	small airway:	n/a
21	chr7:27208887-27208937	HMEC	breast:	n/a
22	chr7:27209790-27209840	NT2-D1	testis:	n/a
23	chr7:27209131-27209181	SK-N-SH	brain:	n/a
24	chr7:27209131-27209181	HRPEpiC	eye:	n/a
25	chr7:27209195-27209245	NB4	blood:	n/a
26	chr7:27209790-27209840	ECC-1	luminal epithelium:	n/a
27	chr7:27209338-27209388	T-47D	breast:	n/a
28	chr7:27209790-27209840	SKMC	muscle:	n/a
29	chr7:27209270-27209320	NT2-D1	testis:	n/a
30	chr7:27209270-27209320	A549	lung:	n/a
31	chr7:27209828-27209878	SK-N-MC	brain:	n/a
32	chr7:27209350-27209400	LNCaP	prostate:	n/a
33	chr7:27209463-27209513	SK-N-MC	brain:	n/a
34	chr7:27209790-27209840	PrEC	prostate:	n/a
35	chr7:27208887-27208937	HL-60	blood:	n/a
36	chr7:27209350-27209400	NHDF-neo	bronchial:	n/a
37	chr7:27209270-27209320	ECC-1	luminal epithelium:	n/a
38	chr7:27209247-27209297	Hela-S3	cervix:	n/a
39	chr7:27209463-27209513	AG04450	lung:	fetal
40	chr7:27209790-27209840	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:27208114-27208164	AG09309	skin:	n/a
42	chr7:27208188-27208238	HCT-116	colon:	n/a
43	chr7:27209195-27209245	HNPCEpiC	eye:	n/a
44	chr7:27208887-27208937	AG04449	skin:	fetal
45	chr7:27209195-27209245	AG10803	skin:	n/a
46	chr7:27209281-27209331	ovcar-3	ovarian:	n/a
47	chr7:27208885-27208935	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:27208285-27208335	MCF-7	breast:	n/a
49	chr7:27208188-27208238	LNCaP	prostate:	n/a
50	chr7:27209338-27209388	IMR90	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27194885..27197425-chr7:27205763..27208498,2	K562	blood:
2	chr7:27203892..27207242-chr7:27209723..27213341,3	MCF-7	breast:
3	chr20:52209640..52210540-chr7:27209024..27209970,2	Hela-S3	cervix:
4	7:27162022-27164727..7:27207968-27210222	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-7	chr7:27208518-27208612	ENSG00000253187.2
2	lnc-EVX1-7	chr7:27208926-27209383	ENSG00000253187.2
3	lnc-EVX1-7	chr7:27208713-27209383	ENSG00000253187.2
4	lnc-EVX1-7	chr7:27208238-27208612	ENSG00000253187.2

miRNA name	Chromosome Location	mirBase accession
hsa-miR-196b-5p	chr7:27209147-27209168	MIMAT0001080
hsa-miR-196b-3p	chr7:27209112-27209133	MIMAT0009201

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HOXA10	hsa-miR-320a	chr7:27210218-27210239
2	HOXA10	hsa-miR-204-5p	chr7:27210459-27210477

Variant related genes	Relation type
HOXA10-AS	TF binding region
HOXA9	TF binding region
MIR196B	TF binding region
HOXA10-AS	CpG island
HOXA9	CpG island
MIR196B	CpG island
ENSG00000122592	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000078399	chromatin interactions
CDK5R1	Mature miRNA region
HOXB8	Mature miRNA region
RTF1	Mature miRNA region
REEP5	Mature miRNA region
BCL2	Mature miRNA region
MRPS26	Mature miRNA region
MRPS35	Mature miRNA region
ATF4	Mature miRNA region
GPS1	Mature miRNA region
PALD1	Mature miRNA region
TLE3	Mature miRNA region
WHSC1L1	Mature miRNA region
TXNDC5	Mature miRNA region
BEST3	Mature miRNA region
MT-ND5	Mature miRNA region
SNX9	Mature miRNA region
PRKACA	Mature miRNA region
KMT2D	Mature miRNA region
HSD17B10	Mature miRNA region
TUBB	Mature miRNA region
CKB	Mature miRNA region
LHX2	Mature miRNA region
HTR1D	Mature miRNA region
MT-CO3	Mature miRNA region
CD8A	Mature miRNA region
SLC23A2	Mature miRNA region
RRP1B	Mature miRNA region
SLC6A15	Mature miRNA region
AJUBA	Mature miRNA region
IARS	Mature miRNA region
TRA2A	Mature miRNA region
MT-ATP6	Mature miRNA region
MAPRE1	Mature miRNA region
MEPCE	Mature miRNA region
MFHAS1	Mature miRNA region
BUB1	Mature miRNA region
CACNB3	Mature miRNA region
MSH6	Mature miRNA region
GNB2L1	Mature miRNA region
HOXC8	Mature miRNA region
LAMB2	Mature miRNA region
BCAR3	Mature miRNA region
TXLNA	Mature miRNA region
HERC2	Mature miRNA region
MAT2A	Mature miRNA region
RPS3	Mature miRNA region
PDE12	Mature miRNA region
CHD2	Mature miRNA region
ALDOA	Mature miRNA region
PAXBP1	Mature miRNA region

Extended variants
information (count: 94 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374703963	chr7:27208054-27208055	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs552789844	chr7:27208081-27208082	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs561832996	chr7:27208124-27208125	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs144460938	chr7:27208156-27208157	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs550691407	chr7:27208190-27208191	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs79908658	chr7:27208243-27208244	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs2071243	chr7:27208280-27208281	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546526592	chr7:27208321-27208322	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs566263095	chr7:27208340-27208341	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs534949599	chr7:27208400-27208401	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs554525374	chr7:27208446-27208447	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs568294816	chr7:27208455-27208456	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs537198199	chr7:27208550-27208551	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs557167936	chr7:27208558-27208559	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs577229344	chr7:27208566-27208567	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs182785154	chr7:27208588-27208589	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs187452390	chr7:27208589-27208590	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs573071549	chr7:27208610-27208611	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs542131871	chr7:27208612-27208613	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs537786538	chr7:27208639-27208640	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141473603	chr7:27208648-27208649	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs544381424	chr7:27208684-27208685	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs564029865	chr7:27208700-27208701	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533014490	chr7:27208704-27208705	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570068402	chr7:27208712-27208713	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs67408369	chr7:27208713-27208714	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs546291382	chr7:27208717-27208718	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs192915053	chr7:27208751-27208752	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs57482287	chr7:27208752-27208753	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs528789038	chr7:27208778-27208779	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs548471997	chr7:27208794-27208795	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs568359042	chr7:27208831-27208832	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs17427819	chr7:27208869-27208870	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs537259324	chr7:27208871-27208872	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs557483001	chr7:27208872-27208873	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs570878547	chr7:27208888-27208889	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs539887957	chr7:27208992-27208993	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs568241610	chr7:27209023-27209024	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs375361370	chr7:27209048-27209049	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs553127888	chr7:27209053-27209054	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs573269511	chr7:27209055-27209056	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs535788013	chr7:27209056-27209057	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs1064033	chr7:27209058-27209059	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs369659770	chr7:27209074-27209075	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs373198735	chr7:27209150-27209151	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	Overlapped CNVs	n/a
46	rs555707988	chr7:27209165-27209166	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	Overlapped CNVs	n/a
47	rs117827196	chr7:27209185-27209186	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs544095244	chr7:27209196-27209197	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs1064032	chr7:27209202-27209203	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs530727884	chr7:27209290-27209291	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27202800-27209600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr7:27202800-27214400	Active TSS	Psoas Muscle	Psoas
3	chr7:27203000-27208800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:27203000-27209200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:27203600-27211000	Active TSS	HSMM	muscle
6	chr7:27203800-27211200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:27204000-27210000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr7:27204200-27208800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:27204400-27213000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr7:27205200-27209200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:27205400-27208400	Flanking Active TSS	HUVEC	blood vessel
12	chr7:27205400-27209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:27205400-27209200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:27205400-27209600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr7:27206000-27208400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:27206200-27208400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:27206200-27210200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr7:27206600-27208600	Flanking Active TSS	NHEK	skin
19	chr7:27206600-27210600	Active TSS	Colon Smooth Muscle	Colon
20	chr7:27206800-27212000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:27207000-27208200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr7:27207000-27208400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:27207000-27211600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:27207400-27208200	Flanking Active TSS	HSMMtube	muscle
25	chr7:27207400-27208400	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr7:27207600-27208200	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr7:27207600-27210000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:27207800-27208200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:27207800-27208200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr7:27207800-27208800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:27207800-27209600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr7:27208000-27208200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:27208000-27208200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:27208000-27208200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr7:27208000-27208200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr7:27208000-27208200	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr7:27208000-27208200	Bivalent Enhancer	Placenta	Placenta
38	chr7:27208000-27208200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr7:27208000-27208200	Flanking Bivalent TSS/Enh	Thymus	Thymus
40	chr7:27208000-27208200	Active TSS	NHDF-Ad	bronchial
41	chr7:27208000-27208400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:27208000-27208400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:27208000-27208600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
44	chr7:27208000-27208800	Bivalent Enhancer	Primary T cells from cord blood	blood
45	chr7:27208000-27208800	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr7:27208000-27208800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr7:27208000-27208800	Weak transcription	A549	lung
48	chr7:27208000-27209200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:27208000-27209200	Bivalent Enhancer	Spleen	Spleen
50	chr7:27208000-27209400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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