Variant report

Variant	esv3439260
Chromosome Location	chr1:228361129-228363177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:245)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:228362247-228362422	K562	blood:	n/a	n/a
2	CBX3	chr1:228362119-228362489	K562	blood:	n/a	n/a
3	CCNT2	chr1:228361622-228362663	K562	blood:	n/a	n/a
4	CREB1	chr1:228362102-228362403	A549	lung:	n/a	n/a
5	CREB1	chr1:228361626-228361893	A549	lung:	n/a	n/a
6	CTCF	chr1:228361706-228361745	NHEK	skin:	n/a	n/a
7	CTCF	chr1:228362192-228362353	H1-hESC	embryonic stem cell:	n/a	chr1:228362249-228362262
8	CTCF	chr1:228362260-228362410	HRE	kidney:	n/a	n/a
9	CTCF	chr1:228362220-228362370	K562	blood:	n/a	chr1:228362249-228362262
10	CTCF	chr1:228362140-228362290	GM12869	blood:	n/a	chr1:228362249-228362262
11	CTCF	chr1:228362220-228362370	HEK293	kidney:	n/a	chr1:228362249-228362262
12	CTCF	chr1:228362200-228362350	NHEK	skin:	n/a	chr1:228362249-228362262
13	CTCF	chr1:228362180-228362330	HCT-116	colon:	n/a	chr1:228362249-228362262
14	CTCF	chr1:228362135-228362426	K562	blood:	n/a	chr1:228362249-228362262
15	CTCF	chr1:228362360-228362510	AG04449	skin:	n/a	n/a
16	CTCFL	chr1:228362163-228362352	K562	blood:	n/a	n/a
17	E2F6	chr1:228362357-228362521	K562	blood:	n/a	n/a
18	EGR1	chr1:228362360-228362627	K562	blood:	n/a	n/a
19	EGR1	chr1:228362133-228362317	K562	blood:	n/a	n/a
20	EGR1	chr1:228362424-228362666	K562	blood:	n/a	n/a
21	ELF1	chr1:228361609-228361892	K562	blood:	n/a	n/a
22	ETS1	chr1:228362171-228362359	K562	blood:	n/a	n/a
23	FOXA1	chr1:228362142-228362358	T-47D	breast:	n/a	n/a
24	FOXA1	chr1:228361463-228361825	T-47D	breast:	n/a	n/a
25	GABPA	chr1:228362163-228362792	K562	blood:	n/a	n/a
26	GABPA	chr1:228362297-228362673	K562	blood:	n/a	n/a
27	GTF2F1	chr1:228361611-228361772	K562	blood:	n/a	n/a
28	HCFC1	chr1:228362156-228362568	K562	blood:	n/a	n/a
29	HEY1	chr1:228362180-228362479	K562	blood:	n/a	n/a
30	HMGN3	chr1:228361404-228362692	K562	blood:	n/a	n/a
31	HMGN3	chr1:228362970-228363170	K562	blood:	n/a	n/a
32	IRF1	chr1:228361595-228362487	K562	blood:	n/a	n/a
33	JUND	chr1:228362202-228362417	K562	blood:	n/a	n/a
34	MAFK	chr1:228362351-228362470	K562	blood:	n/a	n/a
35	MAX	chr1:228362143-228362378	K562	blood:	n/a	chr1:228362364-228362373
36	MAX	chr1:228361587-228361877	K562	blood:	n/a	n/a
37	MAX	chr1:228361502-228361881	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr1:228361667-228361827	K562	blood:	n/a	n/a
39	MAX	chr1:228361707-228361848	K562	blood:	n/a	n/a
40	MAX	chr1:228362080-228362391	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
41	MAX	chr1:228361238-228361892	MCF-7	breast:	n/a	n/a
42	MAX	chr1:228362121-228362635	ECC-1	luminal epithelium:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
43	MAX	chr1:228362125-228362642	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
44	MAZ	chr1:228361788-228361827	K562	blood:	n/a	n/a
45	MAZ	chr1:228362115-228362522	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
46	MYC	chr1:228361526-228361867	MCF-7	breast:	n/a	n/a
47	MYC	chr1:228362207-228362225	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr1:228361520-228361525	MCF-7	breast:	n/a	n/a
49	MYC	chr1:228362132-228362458	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
50	MYC	chr1:228361762-228362500	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228362443-228362493	Hepatocyte	liver:	n/a
2	chr1:228362443-228362493	Hepatocyte	liver:	n/a
3	chr1:228361641-228361691	U87	brain:	n/a
4	chr1:228362309-228362359	T-47D	breast:	n/a
5	chr1:228362309-228362359	ovcar-3	ovarian:	n/a
6	chr1:228362443-228362493	HRE	kidney:	n/a
7	chr1:228362309-228362359	NHDF-neo	bronchial:	n/a
8	chr1:228362509-228362559	SK-N-MC	brain:	n/a
9	chr1:228362309-228362359	HAEpiC	amniotic membrane:	n/a
10	chr1:228362309-228362359	PANC-1	pancreas:	n/a
11	chr1:228362509-228362559	Jurkat	blood:	n/a
12	chr1:228361641-228361691	NHBE	bronchial:	n/a
13	chr1:228361641-228361691	MCF10A-Er-Src	breast:	n/a
14	chr1:228361641-228361691	LNCaP	prostate:	n/a
15	chr1:228362443-228362493	GM06990	blood:	n/a
16	chr1:228361641-228361691	BJ	skin:	n/a
17	chr1:228362443-228362493	A549	lung:	n/a
18	chr1:228362443-228362493	GM12878	blood:	n/a
19	chr1:228361641-228361691	SKMC	muscle:	n/a
20	chr1:228362509-228362559	HAEpiC	amniotic membrane:	n/a
21	chr1:228362309-228362359	MCF10A-Er-Src	breast:	n/a
22	chr1:228362443-228362493	SK-N-SH_RA	brain:	n/a
23	chr1:228362509-228362559	Caco-2	colon:	n/a
24	chr1:228362509-228362559	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:228362309-228362359	SAEC	small airway:	n/a
26	chr1:228362309-228362359	GM06990	blood:	n/a
27	chr1:228362309-228362359	SK-N-SH	brain:	n/a
28	chr1:228362309-228362359	NT2-D1	testis:	n/a
29	chr1:228362509-228362559	HCM	heart:	n/a
30	chr1:228362309-228362359	ECC-1	luminal epithelium:	n/a
31	chr1:228362309-228362359	AG09319	gingival:	n/a
32	chr1:228361641-228361691	NT2-D1	testis:	n/a
33	chr1:228362443-228362493	GM12892	blood:	n/a
34	chr1:228362443-228362493	GM19239	blood:	n/a
35	chr1:228362309-228362359	Hela-S3	cervix:	n/a
36	chr1:228361641-228361691	HMEC	breast:	n/a
37	chr1:228361641-228361691	HCT-116	colon:	n/a
38	chr1:228362443-228362493	Caco-2	colon:	n/a
39	chr1:228362309-228362359	HRPEpiC	eye:	n/a
40	chr1:228362309-228362359	PFSK-1	brain:	n/a
41	chr1:228362309-228362359	HNPCEpiC	eye:	n/a
42	chr1:228362309-228362359	HRCEpiC	kidney:	n/a
43	chr1:228362443-228362493	AoSMC	blood vessel:	n/a
44	chr1:228362309-228362359	RPTEC	kidney:	n/a
45	chr1:228362443-228362493	K562	blood:	n/a
46	chr1:228362443-228362493	HIPEpiC	eye:	n/a
47	chr1:228361641-228361691	GM12891	blood:	n/a
48	chr1:228362309-228362359	GM12878	blood:	n/a
49	chr1:228362443-228362493	NB4	blood:	n/a
50	chr1:228362509-228362559	NH-A	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228362275..228366557-chr1:228367502..228371326,4	MCF-7	breast:
2	chr1:228362968..228364679-chr1:228382995..228385252,2	K562	blood:
3	chr1:228320957..228324264-chr1:228357884..228361663,3	MCF-7	breast:
4	chr1:228362342..228364297-chr1:228644461..228646357,2	K562	blood:
5	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
6	chr1:228331165..228333412-chr1:228361433..228363518,2	MCF-7	breast:
7	chr1:228269154..228271874-chr1:228360119..228363775,3	K562	blood:
8	chr1:228296474..228298184-chr1:228362327..228363984,2	K562	blood:
9	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
10	chr1:228361423..228364297-chr1:228644461..228646940,2	K562	blood:
11	chr1:228359729..228361744-chr1:228520707..228523201,2	K562	blood:
12	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:
13	chr1:228296791..228299072-chr1:228362296..228364108,2	MCF-7	breast:
14	chr1:228362964..228365740-chr1:228389422..228392205,2	K562	blood:

No data

Variant related genes	Relation type
IBA57	TF binding region
IBA57	CpG island
ENSG00000143774	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000227625	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576575437	chr1:228361150-228361151	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs56386805	chr1:228361219-228361220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547629533	chr1:228361238-228361239	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs117511483	chr1:228361341-228361342	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs536222806	chr1:228361344-228361345	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs528355514	chr1:228361370-228361371	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs541783136	chr1:228361413-228361414	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs562070704	chr1:228361502-228361503	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs530938215	chr1:228361541-228361542	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs113022098	chr1:228361576-228361577	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs374877630	chr1:228361580-228361581	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs57527701	chr1:228361591-228361592	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs570955313	chr1:228361592-228361593	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs566623344	chr1:228361597-228361598	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs547135934	chr1:228361600-228361601	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs190655298	chr1:228361639-228361640	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs61100243	chr1:228361685-228361686	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555794656	chr1:228361687-228361688	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs535652092	chr1:228361700-228361701	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs569247939	chr1:228361711-228361712	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs536644355	chr1:228361738-228361739	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs12732065	chr1:228361739-228361740	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs555231396	chr1:228361750-228361751	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs539177304	chr1:228361809-228361810	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs150130570	chr1:228361812-228361813	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs572958593	chr1:228361817-228361818	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs542070190	chr1:228361832-228361833	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs367817788	chr1:228361833-228361834	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs561825896	chr1:228361845-228361846	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs138850962	chr1:228361848-228361849	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs544597549	chr1:228361877-228361878	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs564486760	chr1:228361919-228361920	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs71180782	chr1:228362025-228362026	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs12141488	chr1:228362213-228362214	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560696083	chr1:228362217-228362218	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs375346184	chr1:228362224-228362225	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs78028873	chr1:228362238-228362239	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs74931164	chr1:228362306-228362307	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs569184047	chr1:228362307-228362308	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs538179679	chr1:228362308-228362309	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370277134	chr1:228362346-228362347	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs374967019	chr1:228362357-228362358	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs201889314	chr1:228362363-228362364	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs116455781	chr1:228362364-228362365	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs375620094	chr1:228362373-228362374	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs552805022	chr1:228362378-228362379	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs368178420	chr1:228362379-228362380	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs368007738	chr1:228362386-228362387	Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs372009942	chr1:228362429-228362430	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs138726019	chr1:228362456-228362457	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228362600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
3	chr1:228354600-228361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:228354600-228362200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:228354600-228362200	Weak transcription	Fetal Thymus	thymus
6	chr1:228354600-228362400	Weak transcription	Psoas Muscle	Psoas
7	chr1:228354600-228363600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:228354600-228370400	Weak transcription	Right Atrium	heart
9	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
11	chr1:228354800-228361200	Weak transcription	Fetal Lung	lung
12	chr1:228354800-228361400	Weak transcription	Esophagus	oesophagus
13	chr1:228354800-228361400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:228354800-228361400	Weak transcription	A549	lung
15	chr1:228354800-228361600	Weak transcription	Colonic Mucosa	Colon
16	chr1:228354800-228362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:228354800-228362200	Weak transcription	NHLF	lung
18	chr1:228354800-228362400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:228354800-228362400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:228354800-228362400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:228354800-228362400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:228354800-228362400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:228354800-228362400	Weak transcription	Fetal Brain Male	brain
24	chr1:228354800-228362600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:228354800-228362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:228354800-228362600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:228354800-228362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:228354800-228362800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:228354800-228362800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:228354800-228362800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:228354800-228362800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:228354800-228363400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:228354800-228364400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:228354800-228364400	Weak transcription	Brain Substantia Nigra	brain
35	chr1:228354800-228364600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:228354800-228365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:228354800-228366400	Weak transcription	Liver	Liver
38	chr1:228354800-228367000	Weak transcription	Osteobl	bone
39	chr1:228354800-228370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:228354800-228371200	Weak transcription	HSMMtube	muscle
41	chr1:228354800-228373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:228355000-228361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:228355000-228361200	Weak transcription	K562	blood
44	chr1:228355000-228361400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:228355000-228361400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:228355000-228361400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:228355000-228361400	Weak transcription	NHEK	skin
48	chr1:228355000-228362200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:228355000-228362400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:228355000-228362400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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