Variant report

Variant	rs6814760
Chromosome Location	chr4:99183129-99183130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:99182874-99183179	K562	blood:	n/a	n/a
2	MYC	chr4:99181907-99183460	K562	blood:	n/a	chr4:99182388-99182398
3	UBTF	chr4:99181187-99183389	K562	blood:	n/a	n/a
4	TEAD4	chr4:99183106-99183640	K562	blood:	n/a	n/a
5	CHD2	chr4:99182629-99183197	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:99181538-99183577	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr4:99182933-99183524	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:99183128-99183509	HepG2	liver:	n/a	n/a
9	KAP1	chr4:99182804-99183435	HEK293	kidney:	n/a	n/a
10	POLR2A	chr4:99181297-99183179	MCF-7	breast:	n/a	n/a
11	MAX	chr4:99182516-99183527	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr4:99180576-99183393	K562	blood:	n/a	n/a
13	POLR2A	chr4:99181259-99183246	K562	blood:	n/a	n/a
14	TAF1	chr4:99183031-99183443	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr4:99181407-99183476	Hela-S3	cervix:	n/a	n/a
16	YY1	chr4:99182520-99183168	K562	blood:	n/a	chr4:99182550-99182564 chr4:99182552-99182561
17	YY1	chr4:99181240-99183230	HepG2	liver:	n/a	chr4:99181333-99181345 chr4:99182550-99182564 chr4:99181337-99181345 chr4:99182552-99182561 chr4:99181940-99181951
18	POLR2A	chr4:99180639-99183583	Raji	blood:	n/a	n/a
19	POLR2A	chr4:99180532-99183540	MCF10A-Er-Src	breast:	n/a	n/a
20	CTCF	chr4:99183000-99183150	AG04449	skin:	n/a	n/a
21	ZNF143	chr4:99181337-99183327	GM12878	blood:	n/a	chr4:99181609-99181619 chr4:99182886-99182904 chr4:99182890-99182900 chr4:99182487-99182497 chr4:99181515-99181525 chr4:99181636-99181646
22	SIN3AK20	chr4:99183015-99183480	SK-N-SH	brain:	n/a	n/a
23	MAX	chr4:99181114-99183611	HCT-116	colon:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
24	MAZ	chr4:99181310-99183517	K562	blood:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
25	MAX	chr4:99181167-99183535	H1-hESC	embryonic stem cell:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
26	POLR2A	chr4:99183120-99183371	SK-N-SH	brain:	n/a	n/a
27	MAX	chr4:99181288-99183565	ECC-1	luminal epithelium:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
28	POLR2A	chr4:99180827-99183493	GM18505	blood:	n/a	n/a
29	MAX	chr4:99181374-99183520	Hela-S3	cervix:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
30	ELF1	chr4:99182500-99183243	GM12878	blood:	n/a	chr4:99183003-99183015
31	POLR2A	chr4:99183061-99183465	K562	blood:	n/a	n/a
32	CHD2	chr4:99182650-99183237	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:99181334-99183220	GM18951	blood:	n/a	n/a
34	SIN3AK20	chr4:99181107-99183524	MCF-7	breast:	n/a	n/a
35	E2F6	chr4:99182989-99183265	K562	blood:	n/a	n/a
36	E2F6	chr4:99182532-99183360	H1-hESC	embryonic stem cell:	n/a	chr4:99182552-99182561 chr4:99182554-99182564
37	POLR2A	chr4:99181179-99183162	GM19099	blood:	n/a	n/a
38	E2F6	chr4:99181445-99183360	A549	lung:	n/a	chr4:99182552-99182561 chr4:99182554-99182564 chr4:99182287-99182297
39	MXI1	chr4:99182726-99183287	H1-hESC	embryonic stem cell:	n/a	n/a
40	RFX5	chr4:99182985-99183619	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr4:99182962-99183475	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr4:99182716-99183524	Hela-S3	cervix:	n/a	n/a
43	TCF12	chr4:99181354-99183217	ECC-1	luminal epithelium:	n/a	chr4:99181959-99181969 chr4:99181958-99181965 chr4:99182572-99182582
44	MAZ	chr4:99181154-99183506	IMR90	lung:	n/a	chr4:99181518-99181528 chr4:99182388-99182398
45	TBP	chr4:99181268-99183177	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr4:99182552-99183564	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr4:99181330-99183474	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:99181086-99183225	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr4:99183000-99183562	SK-N-MC	brain:	n/a	n/a
50	USF2	chr4:99183115-99183138	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:99181647..99184072-chr4:99579310..99582613,3	MCF-7	breast:
2	chr4:99062262..99068404-chr4:99178848..99183768,9	MCF-7	breast:
3	chr4:99063959..99066263-chr4:99181971..99183968,2	K562	blood:
4	chr4:99183041..99184683-chr4:99227227..99228735,2	MCF-7	breast:
5	chr4:99182748..99183661-chr6:89791487..89792153,2	Hela-S3	cervix:
6	chr4:99180743..99183219-chr4:99577927..99581407,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214559	TF binding region
ENSG00000146278	Chromatin interaction
ENSG00000163116	Chromatin interaction
ENSG00000260641	Chromatin interaction
ENSG00000168785	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs55634286	1.00[AMR][1000 genomes]
rs55699140	1.00[AMR][1000 genomes]
rs55913300	1.00[AMR][1000 genomes]
rs55942043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55950397	1.00[AMR][1000 genomes]
rs55987744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56022708	1.00[AMR][1000 genomes]
rs56030651	1.00[AMR][1000 genomes]
rs56032135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56038362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075971	1.00[AMR][1000 genomes]
rs56081533	1.00[AMR][1000 genomes]
rs56110006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56128838	1.00[AMR][1000 genomes]
rs56199712	1.00[AMR][1000 genomes]
rs56262026	1.00[AMR][1000 genomes]
rs56743102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56813590	1.00[AMR][1000 genomes]
rs57012386	1.00[AMR][1000 genomes]
rs57375402	1.00[AMR][1000 genomes]
rs57678573	1.00[AMR][1000 genomes]
rs57911361	1.00[AMR][1000 genomes]
rs58507370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58579740	1.00[AMR][1000 genomes]
rs59399028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643301	1.00[AMR][1000 genomes]
rs59911323	1.00[AMR][1000 genomes]
rs59980453	1.00[AMR][1000 genomes]
rs60107453	1.00[AMR][1000 genomes]
rs60148186	1.00[AMR][1000 genomes]
rs60218968	1.00[AMR][1000 genomes]
rs60460868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60473964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60502057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60551470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60883587	1.00[AMR][1000 genomes]
rs60969041	1.00[AMR][1000 genomes]
rs60998950	1.00[AMR][1000 genomes]
rs61537932	1.00[AMR][1000 genomes]
rs73832148	1.00[AMR][1000 genomes]
rs73832150	1.00[AMR][1000 genomes]
rs73832166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832168	1.00[AMR][1000 genomes]
rs73832169	1.00[AMR][1000 genomes]
rs73832170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832174	1.00[AMR][1000 genomes]
rs73832175	1.00[AMR][1000 genomes]
rs73832177	1.00[AMR][1000 genomes]
rs73832178	1.00[AMR][1000 genomes]
rs73832179	1.00[AMR][1000 genomes]
rs73832180	1.00[AMR][1000 genomes]
rs73832181	1.00[AMR][1000 genomes]
rs73832184	1.00[AMR][1000 genomes]
rs73832185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832186	1.00[AMR][1000 genomes]
rs73832187	1.00[AMR][1000 genomes]
rs73832188	1.00[AMR][1000 genomes]
rs73832189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832194	1.00[AMR][1000 genomes]
rs73832195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832197	1.00[AMR][1000 genomes]
rs73832198	1.00[AMR][1000 genomes]
rs73832199	1.00[AMR][1000 genomes]
rs73832202	1.00[AMR][1000 genomes]
rs73832303	1.00[AMR][1000 genomes]
rs73832304	1.00[AMR][1000 genomes]
rs73832310	1.00[AMR][1000 genomes]
rs73832312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832313	1.00[AMR][1000 genomes]
rs73832314	1.00[AMR][1000 genomes]
rs73832315	1.00[AMR][1000 genomes]
rs73834405	1.00[AMR][1000 genomes]
rs73834408	1.00[AMR][1000 genomes]
rs73834410	1.00[AMR][1000 genomes]
rs73834413	1.00[AMR][1000 genomes]
rs73834415	1.00[AMR][1000 genomes]
rs73834418	1.00[AMR][1000 genomes]
rs73834420	1.00[AMR][1000 genomes]
rs73834421	1.00[AMR][1000 genomes]
rs73834422	1.00[AMR][1000 genomes]
rs73834425	1.00[AMR][1000 genomes]
rs73834428	1.00[AMR][1000 genomes]
rs73834430	1.00[AMR][1000 genomes]
rs73834432	1.00[AMR][1000 genomes]
rs73834433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834440	1.00[AMR][1000 genomes]
rs73834441	1.00[AMR][1000 genomes]
rs73834442	1.00[AMR][1000 genomes]
rs73834446	1.00[AMR][1000 genomes]
rs73834447	1.00[AMR][1000 genomes]
rs73834448	1.00[AMR][1000 genomes]
rs73834449	1.00[AMR][1000 genomes]
rs73834450	1.00[AMR][1000 genomes]
rs73834451	1.00[AMR][1000 genomes]
rs73834457	1.00[AMR][1000 genomes]
rs73834458	1.00[AMR][1000 genomes]
rs73834459	1.00[AMR][1000 genomes]
rs73834460	1.00[AMR][1000 genomes]
rs73834462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834463	1.00[AMR][1000 genomes]
rs73834464	1.00[AMR][1000 genomes]
rs73834465	1.00[AMR][1000 genomes]
rs73834469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834472	1.00[AMR][1000 genomes]
rs73834473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834477	1.00[AMR][1000 genomes]
rs73834483	1.00[AMR][1000 genomes]
rs73834484	1.00[AMR][1000 genomes]
rs73834486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834488	1.00[AMR][1000 genomes]
rs73834491	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99180600-99184000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr4:99180800-99183400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:99180800-99183600	Active TSS	Colonic Mucosa	Colon
4	chr4:99180800-99183800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:99180800-99183800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:99180800-99184000	Active TSS	Aorta	Aorta
7	chr4:99180800-99184200	Active TSS	HSMMtube	muscle
8	chr4:99181000-99183200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:99181000-99183600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:99181000-99183600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:99181000-99183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:99181000-99183800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:99181000-99183800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:99181000-99183800	Active TSS	Fetal Brain Male	brain
15	chr4:99181000-99183800	Active TSS	Fetal Intestine Large	intestine
16	chr4:99181000-99183800	Active TSS	Fetal Stomach	stomach
17	chr4:99181000-99183800	Active TSS	Right Atrium	heart
18	chr4:99181000-99183800	Active TSS	GM12878-XiMat	blood
19	chr4:99181000-99183800	Active TSS	NHDF-Ad	bronchial
20	chr4:99181000-99184000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr4:99181000-99184000	Active TSS	Right Ventricle	heart
22	chr4:99181000-99184200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:99181000-99184200	Active TSS	HSMM	muscle
24	chr4:99181000-99184800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:99181200-99183400	Active TSS	Lung	lung
26	chr4:99181200-99183400	Active TSS	Dnd41	blood
27	chr4:99181200-99183600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:99181200-99183600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:99181200-99183600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:99181200-99183600	Active TSS	Brain Angular Gyrus	brain
31	chr4:99181200-99183600	Active TSS	Brain Anterior Caudate	brain
32	chr4:99181200-99183600	Active TSS	Brain Hippocampus Middle	brain
33	chr4:99181200-99183600	Active TSS	Fetal Brain Female	brain
34	chr4:99181200-99183600	Active TSS	Gastric	stomach
35	chr4:99181200-99183600	Active TSS	Left Ventricle	heart
36	chr4:99181200-99183600	Active TSS	Ovary	ovary
37	chr4:99181200-99183800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:99181200-99183800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:99181200-99183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:99181200-99183800	Active TSS	Colon Smooth Muscle	Colon
41	chr4:99181200-99183800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr4:99181200-99183800	Active TSS	Psoas Muscle	Psoas
43	chr4:99181200-99183800	Active TSS	Stomach Smooth Muscle	stomach
44	chr4:99181200-99183800	Active TSS	NH-A	brain
45	chr4:99181200-99184000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:99181200-99184000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:99181200-99184000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:99181200-99184000	Active TSS	Esophagus	oesophagus
49	chr4:99181200-99184200	Active TSS	A549	lung
50	chr4:99181200-99184400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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