Variant report

Variant	rs5792431
Chromosome Location	chr11:67807143-67807144
allele	-/C
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	chr11:67806064-67808274	IMR90	lung:	n/a	n/a
2	BHLHE40	chr11:67806324-67807679	GM12878	blood:	n/a	chr11:67806545-67806561 chr11:67806553-67806569
3	ZBTB7A	chr11:67806414-67807603	K562	blood:	n/a	chr11:67806958-67806967
4	MAX	chr11:67807124-67808464	K562	blood:	n/a	chr11:67807201-67807217
5	POLR2A	chr11:67807143-67808438	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:67804507-67808204	HepG2	liver:	n/a	n/a
7	NR2F2	chr11:67806678-67807836	K562	blood:	n/a	n/a
8	TCF12	chr11:67805504-67807229	A549	lung:	n/a	chr11:67805897-67805904 chr11:67807204-67807212 chr11:67805928-67805938
9	MYC	chr11:67805845-67808151	K562	blood:	n/a	chr11:67807201-67807217
10	ELF1	chr11:67805709-67807514	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67805501-67808649	HL-60	blood:	n/a	n/a
12	MTA3	chr11:67804296-67808730	GM12878	blood:	n/a	n/a
13	HCFC1	chr11:67805278-67807291	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:67805732-67807328	GM12878	blood:	n/a	n/a
15	PML	chr11:67805896-67807145	GM12878	blood:	n/a	n/a
16	ZBTB7A	chr11:67805679-67807655	K562	blood:	n/a	chr11:67806958-67806967
17	STAT5A	chr11:67806432-67808583	GM12878	blood:	n/a	chr11:67807803-67807815 chr11:67808156-67808167 chr11:67807001-67807013
18	E2F6	chr11:67807114-67807275	K562	blood:	n/a	n/a
19	MAX	chr11:67805222-67808197	HepG2	liver:	n/a	chr11:67807201-67807217
20	MAX	chr11:67805490-67807268	A549	lung:	n/a	chr11:67807201-67807217
21	ZBTB7A	chr11:67805822-67807594	ECC-1	luminal epithelium:	n/a	chr11:67806958-67806967
22	POLR2A	chr11:67802621-67808788	K562	blood:	n/a	n/a
23	BHLHE40	chr11:67806262-67807447	K562	blood:	n/a	chr11:67806545-67806561 chr11:67806553-67806569
24	POLR2A	chr11:67801320-67808709	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
2	chr11:67803003..67807692-chr11:67979461..67982180,5	MCF-7	breast:
3	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:
4	chr11:67773590..67781005-chr11:67806590..67810441,8	K562	blood:
5	chr11:67803608..67807840-chr11:67979633..67982182,3	K562	blood:
6	chr11:67805532..67808187-chr11:67887312..67890096,4	MCF-7	breast:
7	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
8	chr11:67806702..67808543-chr11:67969108..67970985,2	MCF-7	breast:

Variant related genes	Relation type
TCIRG1	TF binding region
ENSG00000006534	Chromatin interaction
ENSG00000255236	Chromatin interaction
ENSG00000110057	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
7	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
9	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
10	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
11	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
12	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
13	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
14	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
15	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
16	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
17	nsv1050471	chr11:67764068-67821610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv468615	chr11:67765056-67816936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
19	nsv555278	chr11:67765056-67816936	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
20	nsv897841	chr11:67765056-67816936	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
21	nsv469964	chr11:67765056-67821036	Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
22	nsv897842	chr11:67765056-67821036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
23	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
24	nsv1046054	chr11:67768796-67819790	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
25	nsv897845	chr11:67774231-67821036	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
26	nsv555279	chr11:67789553-67816936	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
27	nsv897848	chr11:67789837-67816936	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
28	nsv897849	chr11:67789837-67821036	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
29	nsv555280	chr11:67793014-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
30	nsv897851	chr11:67793448-67821036	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
31	nsv897852	chr11:67795066-67833543	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
32	nsv555281	chr11:67796691-67821036	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
33	nsv555282	chr11:67798567-67818325	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
34	nsv555283	chr11:67804074-67816936	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	10 gene(s)	inside rSNPs	diseases
35	nsv897853	chr11:67804074-67817876	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
36	nsv897854	chr11:67805476-67818325	Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
37	nsv897855	chr11:67805563-67842369	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
38	nsv555284	chr11:67806703-67817534	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 gene(s)	inside rSNPs	diseases
39	nsv897856	chr11:67806703-67821036	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67802000-67807400	Weak transcription	Dnd41	blood
2	chr11:67804000-67807400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:67805200-67808000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr11:67805200-67808800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:67805400-67807800	Flanking Active TSS	Liver	Liver
6	chr11:67805400-67808200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67805400-67808600	Enhancers	Fetal Heart	heart
8	chr11:67805600-67808800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:67805800-67807200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:67805800-67807200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:67805800-67807200	Flanking Active TSS	Right Ventricle	heart
12	chr11:67805800-67807800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr11:67805800-67808200	Active TSS	HepG2	liver
14	chr11:67805800-67808400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:67805800-67808400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:67805800-67808400	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr11:67805800-67808600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67805800-67808600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr11:67805800-67808600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:67805800-67808600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr11:67805800-67808800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:67806000-67807200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:67806000-67807200	Flanking Active TSS	HMEC	breast
24	chr11:67806000-67808400	Active TSS	Brain Angular Gyrus	brain
25	chr11:67806000-67808600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr11:67806000-67808600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:67806000-67808600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr11:67806000-67808600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr11:67806000-67808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:67806000-67808600	Flanking Active TSS	Fetal Stomach	stomach
31	chr11:67806000-67808600	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:67806000-67808800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:67806000-67809000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr11:67806200-67807200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:67806200-67807200	Active TSS	K562	blood
36	chr11:67806200-67807400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:67806200-67807400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:67806200-67807400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr11:67806200-67808200	Active TSS	Lung	lung
40	chr11:67806200-67808400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:67806200-67808400	Active TSS	Aorta	Aorta
42	chr11:67806200-67808400	Active TSS	Psoas Muscle	Psoas
43	chr11:67806200-67808400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr11:67806200-67808400	Active TSS	A549	lung
45	chr11:67806200-67808400	Active TSS	NHLF	lung
46	chr11:67806200-67808600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:67806200-67808600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:67806200-67808600	Active TSS	Left Ventricle	heart
49	chr11:67806200-67808600	Active TSS	Right Atrium	heart
50	chr11:67806200-67808800	Flanking Active TSS	Primary B cells from cord blood	blood

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