Variant report

Variant	rs10931292
Chromosome Location	chr2:188419478-188419479
allele	A/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	IRF1	chr2:188416961-188419744	K562	blood:	n/a	chr2:188418226-188418237 chr2:188418223-188418237 chr2:188417369-188417385 chr2:188418225-188418236 chr2:188418794-188418807 chr2:188418226-188418238 chr2:188418226-188418238 chr2:188418554-188418574 chr2:188418227-188418237 chr2:188418227-188418241 chr2:188418221-188418238
2	TRIM28	chr2:188418794-188419740	K562	blood:	n/a	n/a
3	POLR2A	chr2:188417292-188419679	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:188418766-188419496	HUVEC	blood vessel:	n/a	n/a
5	ELF1	chr2:188419029-188419515	MCF-7	breast:	n/a	chr2:188419224-188419237
6	ZNF143	chr2:188418649-188419717	K562	blood:	n/a	n/a
7	SMARCA4	chr2:188417077-188419837	K562	blood:	n/a	chr2:188418064-188418073
8	FOS	chr2:188418903-188419518	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr2:188419400-188419550	HPAF	blood vessel:	n/a	n/a
10	MXI1	chr2:188417652-188419816	IMR90	lung:	n/a	n/a
11	MYBL2	chr2:188417633-188419992	HepG2	liver:	n/a	n/a
12	MBD4	chr2:188417135-188420616	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:188418628-188419612	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr2:188418537-188419485	U87	brain:	n/a	n/a
15	ZNF384	chr2:188418732-188419756	K562	blood:	n/a	n/a
16	GATA2	chr2:188418981-188419715	HUVEC	blood vessel:	n/a	n/a
17	EP300	chr2:188417689-188419659	K562	blood:	n/a	chr2:188418542-188418556 chr2:188419226-188419235 chr2:188418088-188418102
18	GATA1	chr2:188417654-188419687	PBDE	blood:	n/a	chr2:188418085-188418094 chr2:188418825-188418838
19	POLR2A	chr2:188417133-188419555	HUVEC	blood vessel:	n/a	n/a
20	TBP	chr2:188417788-188419617	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:188419439-188420785	HepG2	liver:	n/a	n/a
22	UBTF	chr2:188418860-188419571	K562	blood:	n/a	n/a
23	JUND	chr2:188418683-188419644	K562	blood:	n/a	n/a
24	NFIC	chr2:188418367-188419526	HepG2	liver:	n/a	n/a
25	TBL1XR1	chr2:188418701-188419712	K562	blood:	n/a	n/a
26	TBP	chr2:188418629-188419706	K562	blood:	n/a	n/a
27	UBTF	chr2:188418800-188419550	K562	blood:	n/a	n/a
28	CUX1	chr2:188417772-188419518	K562	blood:	n/a	chr2:188418669-188418683
29	POLR2A	chr2:188418732-188419485	U87	brain:	n/a	n/a
30	CTCF	chr2:188419380-188419530	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr2:188418675-188419554	K562	blood:	n/a	n/a
32	ZMIZ1	chr2:188418869-188419689	K562	blood:	n/a	n/a
33	CEBPB	chr2:188417810-188419654	Hela-S3	cervix:	n/a	chr2:188418316-188418327 chr2:188418314-188418327 chr2:188418314-188418325 chr2:188418316-188418325
34	KAP1	chr2:188417759-188419608	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
TFPI	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10179730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187622	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16829086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16829090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172424	0.98[ASN][1000 genomes]
rs6434221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7560548	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:188413600-188419800	Active TSS	Right Atrium	heart
4	chr2:188414600-188419600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:188415000-188431200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:188415800-188419600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:188416000-188420400	Active TSS	Duodenum Mucosa	Duodenum
8	chr2:188416200-188419800	Active TSS	HSMMtube	muscle
9	chr2:188416400-188419600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:188416400-188419600	Active TSS	HSMM	muscle
11	chr2:188416400-188419600	Active TSS	K562	blood
12	chr2:188416400-188419800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:188416400-188419800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:188416400-188419800	Active TSS	Liver	Liver
15	chr2:188416400-188420000	Active TSS	Psoas Muscle	Psoas
16	chr2:188416400-188420400	Active TSS	NHLF	lung
17	chr2:188416600-188419600	Active TSS	Hela-S3	cervix
18	chr2:188417000-188419600	Active TSS	NHDF-Ad	bronchial
19	chr2:188417200-188419600	Active TSS	Fetal Stomach	stomach
20	chr2:188417200-188419800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:188417400-188419600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:188417600-188420200	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:188417800-188419600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:188418000-188419600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr2:188418200-188419800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:188418800-188419600	Transcr. at gene 5' and 3'	HepG2	liver
27	chr2:188419000-188420000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:188419200-188419600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:188419200-188419600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:188419200-188419600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:188419200-188419800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:188419200-188419800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:188419200-188420000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:188419200-188423400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:188419200-188429200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:188419400-188419600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:188419400-188419600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:188419400-188419600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:188419400-188419600	Flanking Active TSS	NH-A	brain
40	chr2:188419400-188419800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr2:188419400-188419800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:188419400-188419800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:188419400-188419800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:188419400-188419800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:188419400-188419800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:188419400-188419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:188419400-188419800	Enhancers	Fetal Intestine Large	intestine
48	chr2:188419400-188419800	Enhancers	Fetal Intestine Small	intestine
49	chr2:188419400-188419800	Enhancers	Fetal Kidney	kidney
50	chr2:188419400-188419800	Enhancers	Fetal Muscle Leg	muscle

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