Variant report

Variant	rs10026985
Chromosome Location	chr4:148798473-148798474
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	GATA3	chr4:148798295-148798777	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr4:148798131-148798955	SH-SY5Y	brain:	n/a	n/a
3	EP300	chr4:148797824-148799127	SK-N-SH	brain:	n/a	chr4:148798971-148798985
4	GATA3	chr4:148798193-148799001	SK-N-SH	brain:	n/a	chr4:148798990-148799001
5	GATA3	chr4:148798336-148798760	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr4:148797993-148799232	SK-N-SH	brain:	n/a	n/a
7	EP300	chr4:148798344-148798817	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148796743..148799400-chr4:148805764..148808570,2	K562	blood:
2	chr4:148793093..148794809-chr4:148796760..148798646,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP10	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10000278	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10001688	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10001756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10003507	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10004138	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10004691	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10004792	1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs10014593	0.90[EUR][1000 genomes]
rs10014696	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10015875	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10018820	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10018903	0.82[CEU][hapmap]
rs10025069	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10030358	1.00[CEU][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs10049932	1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs11099671	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11099672	1.00[CEU][hapmap];0.83[CHD][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs11734553	0.87[EUR][1000 genomes]
rs11735412	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11737346	0.85[JPT][hapmap]
rs12331562	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12509618	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs12513192	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12641291	0.82[CEU][hapmap]
rs12643550	0.90[EUR][1000 genomes]
rs12650219	0.82[CEU][hapmap]
rs13129325	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs13151898	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1369958	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17024037	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17613979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17614025	1.00[CEU][hapmap];0.80[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs17676080	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2043643	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2043644	0.82[CEU][hapmap]
rs2043645	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28576385	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28614116	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2884400	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34970355	0.87[EUR][1000 genomes]
rs35243600	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35810358	0.92[EUR][1000 genomes]
rs35899247	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3893175	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs3990920	1.00[CEU][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs4240338	0.82[CEU][hapmap]
rs4240339	0.82[CEU][hapmap]
rs4240341	1.00[CEU][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs4491995	1.00[CEU][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs4571312	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4627844	0.87[EUR][1000 genomes]
rs4835103	0.82[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4835109	0.82[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs4835110	0.90[EUR][1000 genomes]
rs4835469	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs55650760	0.84[EUR][1000 genomes]
rs55820558	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62330732	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62330735	0.92[EUR][1000 genomes]
rs62330737	0.89[EUR][1000 genomes]
rs6535569	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6811769	0.87[EUR][1000 genomes]
rs6818371	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6832527	0.82[EUR][1000 genomes]
rs6840771	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6843392	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6856273	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7656471	0.83[EUR][1000 genomes]
rs7660508	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7666127	1.00[CEU][hapmap]
rs7677632	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7698670	0.88[EUR][1000 genomes]
rs893022	0.82[CEU][hapmap]
rs893033	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9991741	1.00[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs9994650	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9995896	0.82[CEU][hapmap]
rs9995956	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9996108	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs9997027	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9999321	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
3	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
4	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
6	chr4:148786000-148804000	Weak transcription	Psoas Muscle	Psoas
7	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
8	chr4:148787400-148800400	Weak transcription	NHEK	skin
9	chr4:148787600-148801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:148788000-148800200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:148788800-148803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:148789800-148805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:148790200-148799000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:148790400-148805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:148790600-148805800	Weak transcription	NHLF	lung
16	chr4:148791600-148804400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:148794000-148799000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:148794800-148824600	Weak transcription	A549	lung
20	chr4:148796000-148798800	Strong transcription	Adipose Nuclei	Adipose
21	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:148796200-148799600	Strong transcription	Fetal Stomach	stomach
23	chr4:148796200-148800400	Strong transcription	GM12878-XiMat	blood
24	chr4:148796400-148799800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr4:148796800-148804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:148796800-148804400	Weak transcription	Aorta	Aorta
27	chr4:148796800-148805600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:148796800-148805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:148796800-148808200	Weak transcription	Lung	lung
30	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
33	chr4:148797000-148798800	Weak transcription	Placenta	Placenta
34	chr4:148797000-148806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
36	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:148797200-148799200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:148797200-148800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:148797200-148806400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:148797400-148800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148797400-148801000	Weak transcription	HMEC	breast
43	chr4:148797400-148801200	Weak transcription	NHDF-Ad	bronchial
44	chr4:148797400-148802200	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:148797400-148802600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:148797400-148803400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:148797400-148804000	Weak transcription	Fetal Intestine Large	intestine
48	chr4:148797400-148804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:148797400-148804400	Weak transcription	Esophagus	oesophagus
50	chr4:148797400-148805600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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