Variant report

Variant	rs190924333
Chromosome Location	chr11:71497142-71497143
allele	C/G
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	TAF1	chr11:71497138-71499373	HepG2	liver:	n/a	n/a
2	JUND	chr11:71497038-71498140	HepG2	liver:	n/a	chr11:71497963-71497972 chr11:71497105-71497114 chr11:71497863-71497872
3	FOSL2	chr11:71496807-71499766	HepG2	liver:	n/a	chr11:71497963-71497972 chr11:71499319-71499327 chr11:71497105-71497114 chr11:71499317-71499329 chr11:71497863-71497872
4	SP1	chr11:71497067-71499393	GM12878	blood:	n/a	chr11:71497633-71497642 chr11:71497981-71497993 chr11:71498074-71498086 chr11:71497909-71497921 chr11:71498075-71498084 chr11:71497104-71497113 chr11:71498111-71498123 chr11:71498112-71498122 chr11:71498568-71498580 chr11:71498112-71498121 chr11:71497960-71497972 chr11:71497601-71497615 chr11:71498076-71498085 chr11:71498298-71498307 chr11:71497961-71497970 chr11:71498230-71498244 chr11:71498230-71498239 chr11:71498229-71498241 chr11:71497981-71497993 chr11:71498569-71498579 chr11:71497600-71497612 chr11:71498111-71498123 chr11:71497961-71497975 chr11:71498074-71498086 chr11:71498297-71498309 chr11:71498113-71498122 chr11:71498569-71498579 chr11:71498569-71498578 chr11:71498063-71498075 chr11:71497102-71497114 chr11:71498212-71498226 chr11:71498112-71498121 chr11:71498063-71498075 chr11:71498231-71498240 chr11:71498299-71498308 chr11:71498075-71498089 chr11:71497600-71497612 chr11:71497602-71497611 chr11:71498297-71498309 chr11:71497962-71497971 chr11:71497910-71497924 chr11:71497601-71497610 chr11:71497982-71497991 chr11:71497960-71497972 chr11:71498111-71498122 chr11:71498298-71498308 chr11:71497102-71497114 chr11:71497772-71497781 chr11:71498570-71498579 chr11:71498569-71498578 chr11:71498008-71498020 chr11:71498229-71498241 chr11:71498064-71498073 chr11:71498568-71498580 chr11:71498298-71498307
5	SP1	chr11:71497022-71497307	GM12878	blood:	n/a	chr11:71497104-71497113 chr11:71497102-71497114 chr11:71497102-71497114
6	SP1	chr11:71496342-71498724	HepG2	liver:	n/a	chr11:71497633-71497642 chr11:71497981-71497993 chr11:71498074-71498086 chr11:71497909-71497921 chr11:71498075-71498084 chr11:71497104-71497113 chr11:71498111-71498123 chr11:71498112-71498122 chr11:71498568-71498580 chr11:71498112-71498121 chr11:71497960-71497972 chr11:71497601-71497615 chr11:71498076-71498085 chr11:71498298-71498307 chr11:71497961-71497970 chr11:71498230-71498244 chr11:71498230-71498239 chr11:71498229-71498241 chr11:71497981-71497993 chr11:71498569-71498579 chr11:71497600-71497612 chr11:71498111-71498123 chr11:71497961-71497975 chr11:71498074-71498086 chr11:71498297-71498309 chr11:71498113-71498122 chr11:71498569-71498579 chr11:71498569-71498578 chr11:71498063-71498075 chr11:71497102-71497114 chr11:71498212-71498226 chr11:71498112-71498121 chr11:71498063-71498075 chr11:71498231-71498240 chr11:71498299-71498308 chr11:71498075-71498089 chr11:71497600-71497612 chr11:71497602-71497611 chr11:71498297-71498309 chr11:71497962-71497971 chr11:71497910-71497924 chr11:71497601-71497610 chr11:71497982-71497991 chr11:71497960-71497972 chr11:71498111-71498122 chr11:71498298-71498308 chr11:71497102-71497114 chr11:71497772-71497781 chr11:71498570-71498579 chr11:71498569-71498578 chr11:71498008-71498020 chr11:71498229-71498241 chr11:71498064-71498073 chr11:71498568-71498580 chr11:71498298-71498307
7	PAX5	chr11:71496944-71499500	GM12878	blood:	n/a	chr11:71498296-71498315 chr11:71497959-71497978
8	POLR2A	chr11:71497060-71498099	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:71497059-71497227	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:71497125-71497361	GM12878	blood:	n/a	n/a
11	TAF1	chr11:71496991-71499421	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:71497052-71500345	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:71497084-71498404	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:71496463-71501471	H1-hESC	embryonic stem cell:	n/a	n/a
15	RXRA	chr11:71497078-71497913	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr11:71497044-71497462	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:71496607-71497541	HepG2	liver:	n/a	n/a
18	TCF12	chr11:71496829-71497354	HepG2	liver:	n/a	n/a
19	HEY1	chr11:71496886-71497954	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:71496992-71500721	GM12892	blood:	n/a	n/a
21	POU2F2	chr11:71496972-71498388	GM12878	blood:	n/a	n/a
22	TAF1	chr11:71497088-71498038	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr11:71497070-71498137	HepG2	liver:	n/a	n/a
24	IRF4	chr11:71497052-71497826	GM12878	blood:	n/a	n/a
25	HEY1	chr11:71496419-71498405	HepG2	liver:	n/a	chr11:71498064-71498079
26	FOSL2	chr11:71497079-71497545	HepG2	liver:	n/a	chr11:71497105-71497114
27	IRF4	chr11:71497079-71497996	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr11:71497051-71498113	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:71496966-71501005	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:71496976-71497201	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAM86C1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1036258	chr11:71299175-71523551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv897903	chr11:71316093-71523766	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1035306	chr11:71326941-71523551	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	esv1808002	chr11:71330564-71522967	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv832205	chr11:71336700-71523817	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv1054575	chr11:71352127-71536860	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1047568	chr11:71352127-71538991	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv1047177	chr11:71360190-71513585	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv427893	chr11:71363639-71529688	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
22	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
23	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
24	nsv1049480	chr11:71363999-71533919	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
26	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
27	nsv1044072	chr11:71379653-71527699	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	nsv1038551	chr11:71379653-71533919	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv897906	chr11:71386905-71543708	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv897907	chr11:71386905-71549174	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	nsv1045511	chr11:71395657-71527896	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv1043197	chr11:71423465-71527699	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	nsv1037092	chr11:71443870-71527699	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	esv3379456	chr11:71496804-71499952	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71491600-71497200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:71492200-71497200	Weak transcription	Stomach Mucosa	stomach
3	chr11:71493400-71497200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:71493600-71497200	Weak transcription	Colonic Mucosa	Colon
5	chr11:71493800-71497400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:71494000-71497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:71494000-71497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:71494400-71497200	Weak transcription	HepG2	liver
9	chr11:71494400-71497200	Weak transcription	K562	blood
10	chr11:71494600-71497200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:71494800-71497200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:71494800-71497400	Weak transcription	NHLF	lung
13	chr11:71495000-71497200	Weak transcription	Hela-S3	cervix
14	chr11:71495400-71497200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:71495600-71497200	Enhancers	Fetal Intestine Small	intestine
16	chr11:71496000-71497200	Enhancers	Fetal Intestine Large	intestine
17	chr11:71496600-71497200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:71496800-71497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:71496800-71499200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:71497000-71497200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:71497000-71497200	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:71497000-71497200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:71497000-71497200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:71497000-71497200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:71497000-71497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:71497000-71497200	Enhancers	Adipose Nuclei	Adipose
27	chr11:71497000-71497200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:71497000-71497200	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:71497000-71497200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:71497000-71497200	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:71497000-71497200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:71497000-71497400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:71497000-71499400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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