Variant report

Variant	esv3440157
Chromosome Location	chr9:100849156-100851704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:186)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:100850011-100850437	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr9:100850303-100850475	GM12878	blood:	n/a	n/a
3	CCNT2	chr9:100849898-100850349	K562	blood:	n/a	n/a
4	CHD2	chr9:100849663-100849990	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr9:100850231-100850492	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr9:100849592-100850437	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:100850091-100850286	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr9:100849760-100849910	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr9:100849640-100849790	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr9:100850120-100850270	SAEC	small airway:	n/a	n/a
11	CTCF	chr9:100850198-100850231	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr9:100850044-100850190	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr9:100849660-100849810	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr9:100850160-100850310	AG04449	skin:	n/a	n/a
15	CTCF	chr9:100849600-100849750	NHEK	skin:	n/a	n/a
16	CTCF	chr9:100849560-100849710	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr9:100850280-100850430	HCM	heart:	n/a	n/a
18	CTCF	chr9:100849645-100849872	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr9:100850040-100850190	SAEC	small airway:	n/a	n/a
20	CTCF	chr9:100849720-100849870	HCFaa	heart:	n/a	n/a
21	CTCF	chr9:100849660-100849810	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr9:100850060-100850210	NHEK	skin:	n/a	n/a
23	CTCF	chr9:100849680-100849830	SAEC	small airway:	n/a	n/a
24	CTCF	chr9:100849720-100849870	SAEC	small airway:	n/a	n/a
25	CTCF	chr9:100849660-100849810	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr9:100849640-100849790	GM12873	blood:	n/a	n/a
27	CTCF	chr9:100850000-100850150	HCM	heart:	n/a	n/a
28	CTCF	chr9:100849980-100850130	GM12866	blood:	n/a	n/a
29	CTCF	chr9:100849740-100849890	HMF	breast:	n/a	n/a
30	CTCF	chr9:100849820-100849970	GM12868	blood:	n/a	n/a
31	CTCF	chr9:100849557-100849966	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:100850033-100850287	NHEK	skin:	n/a	n/a
33	CTCF	chr9:100849324-100849397	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:100850020-100850170	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr9:100849660-100849810	GM12864	blood:	n/a	n/a
36	CTCF	chr9:100850259-100850321	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr9:100849444-100850640	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F6	chr9:100849583-100850617	H1-hESC	embryonic stem cell:	n/a	n/a
39	EBF1	chr9:100850009-100850329	GM12878	blood:	n/a	n/a
40	EGR1	chr9:100850207-100850432	K562	blood:	n/a	chr9:100850268-100850282
41	EGR1	chr9:100850126-100850498	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
42	EGR1	chr9:100849983-100850523	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
43	EGR1	chr9:100850180-100850386	GM12878	blood:	n/a	chr9:100850268-100850282
44	EGR1	chr9:100850132-100850425	GM12878	blood:	n/a	chr9:100850268-100850282
45	GTF2F1	chr9:100849684-100850393	H1-hESC	embryonic stem cell:	n/a	n/a
46	HMGN3	chr9:100850242-100850244	K562	blood:	n/a	n/a
47	JUND	chr9:100850153-100850354	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr9:100849662-100850547	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr9:100849789-100850542	HUVEC	blood vessel:	n/a	n/a
50	MAX	chr9:100849490-100850630	H1-hESC	embryonic stem cell:	n/a	n/a

(count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100849700-100849750	AG04449	skin:	fetal
2	chr9:100850391-100850441	AG09319	gingival:	n/a
3	chr9:100850391-100850441	ovcar-3	ovarian:	n/a
4	chr9:100849700-100849750	AG04449	skin:	fetal
5	chr9:100850391-100850441	AG09319	gingival:	n/a
6	chr9:100850391-100850441	ovcar-3	ovarian:	n/a
7	chr9:100849700-100849750	LNCaP	prostate:	n/a
8	chr9:100849700-100849750	HRE	kidney:	n/a
9	chr9:100850391-100850441	MCF10A-Er-Src	breast:	n/a
10	chr9:100849274-100849324	HRE	kidney:	n/a
11	chr9:100850391-100850441	HEK293	kidney:	embryo
12	chr9:100849700-100849750	SK-N-MC	brain:	n/a
13	chr9:100850391-100850441	LNCaP	prostate:	n/a
14	chr9:100850391-100850441	HCT-116	colon:	n/a
15	chr9:100849274-100849324	Hepatocyte	liver:	n/a
16	chr9:100849274-100849324	MCF-7	breast:	n/a
17	chr9:100850391-100850441	HL-60	blood:	n/a
18	chr9:100849274-100849324	HL-60	blood:	n/a
19	chr9:100850391-100850441	HCM	heart:	n/a
20	chr9:100850391-100850441	GM12892	blood:	n/a
21	chr9:100849700-100849750	MCF10A-Er-Src	breast:	n/a
22	chr9:100850391-100850441	SK-N-SH	brain:	n/a
23	chr9:100850391-100850441	BE2_C	brain:	n/a
24	chr9:100849274-100849324	HEK293	kidney:	embryo
25	chr9:100850391-100850441	NHDF-neo	bronchial:	n/a
26	chr9:100849700-100849750	HCM	heart:	n/a
27	chr9:100849274-100849324	HCPEpiC	choroid plexus:	n/a
28	chr9:100849274-100849324	ProgFib	skin:	n/a
29	chr9:100849274-100849324	HRPEpiC	eye:	n/a
30	chr9:100849274-100849324	U87	brain:	n/a
31	chr9:100850391-100850441	PrEC	prostate:	n/a
32	chr9:100850391-100850441	Jurkat	blood:	n/a
33	chr9:100849274-100849324	HCT-116	colon:	n/a
34	chr9:100849700-100849750	SK-N-SH	brain:	n/a
35	chr9:100849274-100849324	HRCEpiC	kidney:	n/a
36	chr9:100849700-100849750	HNPCEpiC	eye:	n/a
37	chr9:100850391-100850441	MCF-7	breast:	n/a
38	chr9:100850391-100850441	AG04449	skin:	fetal
39	chr9:100850391-100850441	U87	brain:	n/a
40	chr9:100849274-100849324	GM06990	blood:	n/a
41	chr9:100849274-100849324	Hela-S3	cervix:	n/a
42	chr9:100850391-100850441	H1-hESC	embryonic stem cell:	embryo
43	chr9:100849274-100849324	HCM	heart:	n/a
44	chr9:100849274-100849324	A549	lung:	n/a
45	chr9:100849700-100849750	Jurkat	blood:	n/a
46	chr9:100849274-100849324	NHDF-neo	bronchial:	n/a
47	chr9:100849274-100849324	IMR90	lung:	fetal
48	chr9:100849274-100849324	GM12892	blood:	n/a
49	chr9:100849700-100849750	GM06990	blood:	n/a
50	chr9:100850391-100850441	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100850324..100853210-chr9:100878642..100880962,2	K562	blood:
2	chr9:100845133..100849564-chr9:100852067..100857931,7	K562	blood:
3	chr9:100849256..100851636-chr9:100854662..100858526,4	MCF-7	breast:
4	chr9:100843269..100846185-chr9:100848032..100850204,2	K562	blood:
5	chr9:100841190..100843013-chr9:100847159..100849959,2	K562	blood:
6	chr9:100838071..100839825-chr9:100848704..100850871,2	K562	blood:

No data

Variant related genes	Relation type
TRIM14	TF binding region
TRIM14	CpG island
ENSG00000095380	chromatin interactions
ENSG00000106785	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539815647	chr9:100849202-100849203	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373232605	chr9:100849215-100849216	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111632541	chr9:100849230-100849231	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138555408	chr9:100849405-100849406	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10984980	chr9:100849465-100849466	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181234322	chr9:100849496-100849497	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1059273	chr9:100849500-100849501	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs570970127	chr9:100849503-100849504	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372403496	chr9:100849524-100849525	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373391674	chr9:100849526-100849527	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185295576	chr9:100849547-100849548	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375352482	chr9:100849548-100849549	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149270853	chr9:100849551-100849552	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536073518	chr9:100849562-100849563	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148864276	chr9:100849611-100849612	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143608336	chr9:100849614-100849615	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78845704	chr9:100849682-100849683	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369749928	chr9:100849734-100849735	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111389800	chr9:100849737-100849738	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144459488	chr9:100849763-100849764	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199858943	chr9:100849772-100849773	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201617037	chr9:100849822-100849823	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572521028	chr9:100849828-100849829	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541518442	chr9:100849829-100849830	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369655193	chr9:100849879-100849880	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372317510	chr9:100849887-100849888	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561263272	chr9:100849908-100849909	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377045210	chr9:100849926-100849927	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369293667	chr9:100849993-100849994	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543677793	chr9:100850047-100850048	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563961121	chr9:100850079-100850080	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188641718	chr9:100850088-100850089	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75264230	chr9:100850126-100850127	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552497291	chr9:100850134-100850135	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570888057	chr9:100850141-100850142	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527321964	chr9:100850192-100850193	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371197846	chr9:100850206-100850207	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116422935	chr9:100850226-100850227	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567268646	chr9:100850239-100850240	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369010782	chr9:100850317-100850318	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112440826	chr9:100850332-100850333	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536396768	chr9:100850338-100850339	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs148396823	chr9:100850488-100850489	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs10685435	chr9:100850628-100850629	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs71707332	chr9:100850629-100850630	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs386415586	chr9:100850632-100850633	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs79537859	chr9:100850635-100850636	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs386736658	chr9:100850636-100850637	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs111766611	chr9:100850637-100850638	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs78401490	chr9:100850638-100850639	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100820000-100849600	Weak transcription	Fetal Brain Male	brain
2	chr9:100820000-100850000	Weak transcription	Fetal Kidney	kidney
3	chr9:100821200-100849600	Weak transcription	Right Atrium	heart
4	chr9:100838200-100852800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:100838600-100852000	Strong transcription	GM12878-XiMat	blood
6	chr9:100839000-100849600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:100839000-100849800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr9:100839400-100850400	Strong transcription	Dnd41	blood
9	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:100839600-100849400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:100839600-100850600	Strong transcription	Thymus	Thymus
12	chr9:100842400-100849800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:100842800-100850200	Weak transcription	Fetal Heart	heart
14	chr9:100843800-100849800	Weak transcription	Ovary	ovary
15	chr9:100843800-100849800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:100844000-100849600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:100844000-100849800	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:100844000-100850000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:100844600-100849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:100844800-100850000	Weak transcription	Brain Substantia Nigra	brain
21	chr9:100845000-100849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:100845000-100850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:100845000-100850600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:100845200-100849600	Weak transcription	Psoas Muscle	Psoas
25	chr9:100845200-100850000	Weak transcription	NHDF-Ad	bronchial
26	chr9:100845200-100853000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr9:100845200-100856200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:100845200-100856600	Weak transcription	Small Intestine	intestine
29	chr9:100845400-100849800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr9:100845800-100849600	Weak transcription	Stomach Mucosa	stomach
31	chr9:100845800-100850000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr9:100845800-100850000	Strong transcription	Lung	lung
33	chr9:100845800-100853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:100846000-100849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:100846000-100849600	Weak transcription	Aorta	Aorta
36	chr9:100846000-100849600	Weak transcription	Brain Germinal Matrix	brain
37	chr9:100846000-100849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:100846000-100849600	Strong transcription	Spleen	Spleen
39	chr9:100846000-100849600	Weak transcription	Osteobl	bone
40	chr9:100846000-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:100846000-100849800	Weak transcription	Right Ventricle	heart
42	chr9:100846000-100849800	Weak transcription	NH-A	brain
43	chr9:100846000-100850000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:100846000-100850000	Weak transcription	HSMM	muscle
45	chr9:100846000-100850200	Weak transcription	Fetal Lung	lung
46	chr9:100846000-100862600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr9:100846200-100849600	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:100846200-100849600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr9:100846200-100849800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr9:100846200-100850000	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links