Variant report

Variant	rs10001756
Chromosome Location	chr4:148797671-148797672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10000278	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10001688	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003507	0.90[EUR][1000 genomes]
rs10004138	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10004691	0.94[EUR][1000 genomes]
rs10004792	0.90[EUR][1000 genomes]
rs10014593	0.90[EUR][1000 genomes]
rs10014696	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10015875	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10025069	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10026985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10030358	0.90[EUR][1000 genomes]
rs10049932	0.90[EUR][1000 genomes]
rs11099671	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11099672	0.90[EUR][1000 genomes]
rs11734553	0.87[EUR][1000 genomes]
rs11735412	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12331562	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12509618	0.87[EUR][1000 genomes]
rs12513192	0.94[EUR][1000 genomes]
rs12643550	0.90[EUR][1000 genomes]
rs13129325	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13151898	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1369958	0.90[EUR][1000 genomes]
rs17024037	0.99[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17613979	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17614025	0.89[EUR][1000 genomes]
rs17676080	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043643	0.94[EUR][1000 genomes]
rs2043645	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28576385	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28614116	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2884400	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34970355	0.87[EUR][1000 genomes]
rs35243600	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35810358	0.92[EUR][1000 genomes]
rs35899247	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3893175	0.87[EUR][1000 genomes]
rs3990920	0.92[EUR][1000 genomes]
rs4240341	0.92[EUR][1000 genomes]
rs4491995	0.90[EUR][1000 genomes]
rs4571312	0.94[EUR][1000 genomes]
rs4627844	0.87[EUR][1000 genomes]
rs4835103	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4835109	0.90[EUR][1000 genomes]
rs4835110	0.90[EUR][1000 genomes]
rs4835469	0.83[EUR][1000 genomes]
rs55650760	0.84[EUR][1000 genomes]
rs55820558	0.94[EUR][1000 genomes]
rs62330732	0.92[EUR][1000 genomes]
rs62330735	0.92[EUR][1000 genomes]
rs62330737	0.89[EUR][1000 genomes]
rs6535569	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6811769	0.87[EUR][1000 genomes]
rs6818371	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6832527	0.82[EUR][1000 genomes]
rs6840771	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6843392	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6856273	0.96[EUR][1000 genomes]
rs7656471	0.83[EUR][1000 genomes]
rs7660508	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7677632	0.98[EUR][1000 genomes]
rs7698670	0.88[EUR][1000 genomes]
rs893033	0.94[EUR][1000 genomes]
rs9991741	0.90[EUR][1000 genomes]
rs9994650	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9995956	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9997027	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9999321	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][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:79 , 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	chr4:148788000-148798400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:148788000-148800200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:148788800-148803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:148789800-148805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:148790200-148799000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:148790400-148805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:148790600-148805800	Weak transcription	NHLF	lung
17	chr4:148791600-148804400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:148793400-148798000	Strong transcription	HSMM	muscle
19	chr4:148793600-148798400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:148794000-148798400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:148794000-148799000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:148794800-148824600	Weak transcription	A549	lung
24	chr4:148795800-148798000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:148796000-148798200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:148796000-148798400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:148796000-148798800	Strong transcription	Adipose Nuclei	Adipose
28	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:148796200-148798000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:148796200-148798200	Strong transcription	Ovary	ovary
31	chr4:148796200-148798200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:148796200-148798400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:148796200-148798400	Strong transcription	Colon Smooth Muscle	Colon
34	chr4:148796200-148798400	Strong transcription	HSMMtube	muscle
35	chr4:148796200-148799600	Strong transcription	Fetal Stomach	stomach
36	chr4:148796200-148800400	Strong transcription	GM12878-XiMat	blood
37	chr4:148796400-148799800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:148796800-148804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:148796800-148804400	Weak transcription	Aorta	Aorta
40	chr4:148796800-148805600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:148796800-148805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:148796800-148808200	Weak transcription	Lung	lung
43	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
46	chr4:148797000-148798800	Weak transcription	Placenta	Placenta
47	chr4:148797000-148806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
49	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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