Variant report

Variant	rs11196874
Chromosome Location	chr10:116444768-116444769
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	JUN	chr10:116444070-116445041	HUVEC	blood vessel:	n/a	chr10:116444820-116444833
2	FOSL2	chr10:116444536-116445072	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr10:116444644-116445078	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr10:116444666-116444974	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:116443940-116444965	HUVEC	blood vessel:	n/a	n/a
6	KAP1	chr10:116444180-116445032	HEK293	kidney:	n/a	n/a
7	FOXA1	chr10:116444584-116444957	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:116444543-116444997	HUVEC	blood vessel:	n/a	n/a
9	FOSL2	chr10:116444698-116445000	A549	lung:	n/a	n/a
10	POLR2A	chr10:116443790-116445121	HUVEC	blood vessel:	n/a	n/a
11	JUND	chr10:116443698-116446290	SK-N-SH	brain:	n/a	chr10:116445995-116446006
12	EP300	chr10:116444108-116445088	A549	lung:	n/a	n/a
13	HEY1	chr10:116444556-116444913	HepG2	liver:	n/a	n/a
14	STAT3	chr10:116444123-116444975	MCF10A-Er-Src	breast:	n/a	chr10:116444437-116444448 chr10:116444433-116444453 chr10:116444439-116444447
15	STAT3	chr10:116444032-116445002	MCF10A-Er-Src	breast:	n/a	chr10:116444437-116444448 chr10:116444433-116444453 chr10:116444439-116444447
16	BCL3	chr10:116444186-116445035	A549	lung:	n/a	n/a
17	SP1	chr10:116444595-116445015	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:116444695-116444888	T-47D	breast:	n/a	n/a
19	STAT3	chr10:116443970-116445012	MCF10A-Er-Src	breast:	n/a	chr10:116444437-116444448 chr10:116444433-116444453 chr10:116444439-116444447
20	RCOR1	chr10:116444135-116444924	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr10:116444326-116445105	A549	lung:	n/a	n/a
22	EP300	chr10:116444495-116445023	HepG2	liver:	n/a	n/a
23	FOS	chr10:116444120-116445060	MCF10A-Er-Src	breast:	n/a	n/a
24	HNF4G	chr10:116444510-116444871	HepG2	liver:	n/a	chr10:116444774-116444787 chr10:116444772-116444787 chr10:116444773-116444788 chr10:116444771-116444789 chr10:116444774-116444786 chr10:116444774-116444787 chr10:116444774-116444787 chr10:116444772-116444787 chr10:116444773-116444781 chr10:116444774-116444786 chr10:116444773-116444786 chr10:116444772-116444787 chr10:116444772-116444787 chr10:116444774-116444786
25	HNF4A	chr10:116444643-116444977	HepG2	liver:	n/a	chr10:116444772-116444787 chr10:116444774-116444787 chr10:116444772-116444787 chr10:116444771-116444789 chr10:116444774-116444786 chr10:116444774-116444787 chr10:116444774-116444787 chr10:116444772-116444787 chr10:116444773-116444781 chr10:116444774-116444786 chr10:116444773-116444786 chr10:116444772-116444787 chr10:116444772-116444787 chr10:116444774-116444786
26	POLR2A	chr10:116444068-116444995	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr10:116444237-116445007	SK-N-SH	brain:	n/a	n/a
28	TEAD4	chr10:116444326-116445064	HepG2	liver:	n/a	n/a
29	GATA3	chr10:116444104-116445748	SK-N-SH	brain:	n/a	n/a
30	CEBPB	chr10:116444122-116444933	Hela-S3	cervix:	n/a	chr10:116444528-116444539
31	EP300	chr10:116444212-116445160	A549	lung:	n/a	n/a
32	ELF1	chr10:116444529-116444967	SK-N-SH	brain:	n/a	n/a
33	ARID3A	chr10:116444339-116445521	HepG2	liver:	n/a	n/a
34	JUND	chr10:116444382-116445027	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr10:116444251-116444881	HepG2	liver:	n/a	chr10:116444528-116444539
36	GATA3	chr10:116444054-116445114	A549	lung:	n/a	n/a
37	TCF12	chr10:116443710-116445170	A549	lung:	n/a	n/a
38	SMC3	chr10:116444350-116444856	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:116444101-116444957	HepG2	liver:	n/a	n/a
40	MYC	chr10:116443930-116444925	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF12	chr10:116443949-116446182	SK-N-SH	brain:	n/a	chr10:116445841-116445851
42	TCF12	chr10:116443846-116446152	SK-N-SH	brain:	n/a	chr10:116445841-116445851
43	FOS	chr10:116444548-116444995	MCF10A-Er-Src	breast:	n/a	n/a
44	GATA2	chr10:116444164-116444985	HUVEC	blood vessel:	n/a	n/a
45	JUN	chr10:116444390-116445027	Hela-S3	cervix:	n/a	chr10:116444820-116444833
46	FOXA1	chr10:116444679-116445058	HepG2	liver:	n/a	n/a
47	PBX3	chr10:116444474-116446095	SK-N-SH	brain:	n/a	chr10:116445154-116445165
48	TBP	chr10:116444429-116444911	HepG2	liver:	n/a	n/a
49	STAT3	chr10:116444096-116445005	MCF10A-Er-Src	breast:	n/a	chr10:116444437-116444448 chr10:116444433-116444453 chr10:116444439-116444447
50	HDAC2	chr10:116444652-116444944	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1029789	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10885595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885597	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196855	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs11196864	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11196872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196904	0.82[CHB][hapmap]
rs1413198	0.85[CEU][hapmap]
rs1968122	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs217194	0.85[ASN][1000 genomes]
rs4751639	0.85[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap]
rs4752114	0.93[ASN][1000 genomes]
rs703347	0.82[ASN][1000 genomes]
rs703348	0.82[ASN][1000 genomes]
rs7075935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100793	0.97[ASN][1000 genomes]
rs719895	0.81[ASN][1000 genomes]
rs719896	0.83[ASN][1000 genomes]
rs7912645	0.82[CHB][hapmap]
rs808253	0.82[ASN][1000 genomes]
rs808256	0.83[ASN][1000 genomes]
rs808259	0.82[ASN][1000 genomes]
rs808346	0.82[CHB][hapmap]
rs882870	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11196874	ABLIM1	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116438600-116444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:116441200-116445200	Flanking Active TSS	HUVEC	blood vessel
3	chr10:116441400-116445600	Enhancers	Fetal Brain Male	brain
4	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:116441800-116445200	Weak transcription	Brain Angular Gyrus	brain
6	chr10:116441800-116445600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:116442600-116445400	Flanking Active TSS	A549	lung
9	chr10:116442600-116445600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:116443000-116445600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr10:116443400-116445200	Enhancers	Brain Germinal Matrix	brain
12	chr10:116443400-116445600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr10:116443400-116446200	Enhancers	Small Intestine	intestine
14	chr10:116443600-116445400	Enhancers	Fetal Stomach	stomach
15	chr10:116443600-116445400	Flanking Active TSS	HepG2	liver
16	chr10:116443800-116445200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:116443800-116445200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:116443800-116446000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr10:116443800-116446000	Enhancers	Placenta	Placenta
20	chr10:116444000-116444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:116444000-116444800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr10:116444000-116444800	Flanking Active TSS	Fetal Lung	lung
23	chr10:116444000-116445000	Enhancers	Primary hematopoietic stem cells	blood
24	chr10:116444000-116445000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr10:116444000-116445000	Flanking Active TSS	Hela-S3	cervix
26	chr10:116444000-116445200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:116444000-116445400	Enhancers	Osteobl	bone
28	chr10:116444000-116447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:116444200-116444800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr10:116444200-116445200	Weak transcription	Aorta	Aorta
31	chr10:116444200-116445800	Enhancers	HMEC	breast
32	chr10:116444400-116444800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:116444400-116444800	Flanking Active TSS	HSMMtube	muscle
34	chr10:116444400-116444800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr10:116444400-116445000	Weak transcription	Brain Anterior Caudate	brain
36	chr10:116444400-116445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:116444400-116445200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:116444400-116445400	Weak transcription	Gastric	stomach
39	chr10:116444400-116445400	Weak transcription	Left Ventricle	heart
40	chr10:116444400-116445600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:116444400-116445600	Enhancers	Fetal Brain Female	brain
42	chr10:116444400-116445600	Enhancers	Right Ventricle	heart
43	chr10:116444400-116445800	Enhancers	Colon Smooth Muscle	Colon
44	chr10:116444400-116447200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:116444400-116447400	Enhancers	Stomach Mucosa	stomach
46	chr10:116444400-116448400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:116444400-116448800	Weak transcription	Ovary	ovary
48	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
50	chr10:116444600-116444800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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