Variant report

Variant	rs6818371
Chromosome Location	chr4:148799672-148799673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10000278	0.92[EUR][1000 genomes]
rs10001688	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10001756	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10003507	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs10004138	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10004691	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10004792	1.00[CEU][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs10014593	0.92[EUR][1000 genomes]
rs10014696	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.92[EUR][1000 genomes]
rs10015875	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10026985	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]
rs10030358	1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs10049932	1.00[CEU][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs11099671	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11099672	1.00[CEU][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs11734553	0.89[EUR][1000 genomes]
rs11735412	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12331562	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12509618	1.00[CEU][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs12513192	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12641291	0.82[CEU][hapmap]
rs12643550	0.92[EUR][1000 genomes]
rs12650219	0.82[CEU][hapmap]
rs13129325	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs13151898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369958	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs17024037	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17613979	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17614025	1.00[CEU][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs17676080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043643	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2043644	0.82[CEU][hapmap]
rs2043645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28576385	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28614116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884400	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34970355	0.89[EUR][1000 genomes]
rs35243600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35810358	0.90[EUR][1000 genomes]
rs35899247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893175	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3990920	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4240338	0.82[CEU][hapmap]
rs4240339	0.82[CEU][hapmap]
rs4240341	1.00[CEU][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs4491995	1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs4571312	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4627844	0.89[EUR][1000 genomes]
rs4835103	0.82[CEU][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs4835109	0.82[CEU][hapmap];0.80[CHD][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs4835110	0.92[EUR][1000 genomes]
rs4835469	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs55650760	0.86[EUR][1000 genomes]
rs55820558	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57114670	0.84[ASN][1000 genomes]
rs62330732	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62330735	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62330737	0.91[EUR][1000 genomes]
rs6535569	0.85[EUR][1000 genomes]
rs6811769	0.89[EUR][1000 genomes]
rs6832527	0.81[EUR][1000 genomes]
rs6840771	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6856273	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656471	0.82[EUR][1000 genomes]
rs7660508	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7666127	1.00[CEU][hapmap]
rs7677632	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7698670	0.87[EUR][1000 genomes]
rs893022	0.82[CEU][hapmap]
rs893033	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9991741	1.00[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs9994650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9995896	0.82[CEU][hapmap]
rs9995956	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs9996108	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs9997027	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes]
rs9999321	0.92[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:75 , 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	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
5	chr4:148786000-148804000	Weak transcription	Psoas Muscle	Psoas
6	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
7	chr4:148787400-148800400	Weak transcription	NHEK	skin
8	chr4:148787600-148801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:148788000-148800200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:148788800-148803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:148789800-148805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:148790400-148805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:148790600-148805800	Weak transcription	NHLF	lung
14	chr4:148791600-148804400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:148794800-148824600	Weak transcription	A549	lung
17	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:148796200-148800400	Strong transcription	GM12878-XiMat	blood
19	chr4:148796400-148799800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr4:148796800-148804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:148796800-148804400	Weak transcription	Aorta	Aorta
22	chr4:148796800-148805600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:148796800-148805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:148796800-148808200	Weak transcription	Lung	lung
25	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
28	chr4:148797000-148806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
30	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:148797200-148800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:148797200-148806400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:148797400-148800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148797400-148801000	Weak transcription	HMEC	breast
36	chr4:148797400-148801200	Weak transcription	NHDF-Ad	bronchial
37	chr4:148797400-148802200	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:148797400-148802600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:148797400-148803400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:148797400-148804000	Weak transcription	Fetal Intestine Large	intestine
41	chr4:148797400-148804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:148797400-148804400	Weak transcription	Esophagus	oesophagus
43	chr4:148797400-148805600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:148797400-148805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:148797400-148805800	Weak transcription	Left Ventricle	heart
46	chr4:148797400-148808000	Weak transcription	HUVEC	blood vessel
47	chr4:148797400-148810000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:148797400-148812400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:148797400-148814400	Weak transcription	NH-A	brain
50	chr4:148797400-148815400	Weak transcription	Monocytes-CD14+_RO01746	blood

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