Variant report

Variant	rs1437678
Chromosome Location	chr2:153511786-153511787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153499674..153501480-chr2:153510390..153512975,2	K562	blood:
2	chr2:153506687..153509225-chr2:153511022..153513824,2	K562	blood:
3	chr2:153503464..153505939-chr2:153511056..153513518,3	MCF-7	breast:
4	chr2:153510920..153513801-chr2:153526345..153529241,2	K562	blood:
5	chr2:153475633..153477367-chr2:153510167..153512000,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10172024	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181485	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10200667	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1128804	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11544718	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899051	0.89[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs12477881	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12621561	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs12693415	0.85[CHB][hapmap]
rs12997814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005368	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010731	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13017428	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13031469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13417781	0.81[CHB][hapmap]
rs13419068	0.86[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1370498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831740	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17328734	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs17400645	0.80[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs1962313	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs1986743	0.80[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1992146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304556	0.90[CHB][hapmap]
rs2304559	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346534	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346539	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2346540	0.91[ASN][1000 genomes]
rs2346541	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346542	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346543	0.81[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2346549	0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2346550	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3171980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3175	0.84[JPT][hapmap]
rs34585982	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34668102	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748937	0.88[ASN][1000 genomes]
rs3748938	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3748939	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762503	0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs3762506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811566	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233660	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4267470	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4580346	0.82[ASN][1000 genomes]
rs4664121	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4664122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664601	0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs4664602	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664604	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664605	0.80[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4664606	0.80[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4664607	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664609	0.87[ASN][1000 genomes]
rs4664610	0.81[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs55785027	0.91[EUR][1000 genomes]
rs56283545	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61049574	0.80[ASN][1000 genomes]
rs6434128	0.95[CHB][hapmap]
rs6434161	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434162	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713779	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723574	0.84[ASN][1000 genomes]
rs6727279	0.89[ASN][1000 genomes]
rs6746079	0.91[ASN][1000 genomes]
rs6746321	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6748160	0.81[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs715047	0.90[ASN][1000 genomes]
rs72871191	0.91[ASN][1000 genomes]
rs72872607	0.91[ASN][1000 genomes]
rs7556673	0.86[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs7558920	0.86[ASN][1000 genomes]
rs7559219	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560393	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570759	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7576152	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576847	0.86[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7582253	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7589899	0.80[ASN][1000 genomes]
rs7592669	0.94[CEU][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596408	0.85[CHB][hapmap]
rs7599946	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7605709	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608603	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs9288121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288127	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9646744	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789505	0.91[ASN][1000 genomes]
rs9789521	0.80[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153492400-153513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:153495400-153517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:153497200-153514000	Weak transcription	Colonic Mucosa	Colon
6	chr2:153497200-153521200	Weak transcription	Esophagus	oesophagus
7	chr2:153497400-153516200	Weak transcription	Spleen	Spleen
8	chr2:153498400-153512200	Weak transcription	Thymus	Thymus
9	chr2:153500000-153512200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:153500400-153517200	Weak transcription	Hela-S3	cervix
11	chr2:153501400-153531800	Weak transcription	Aorta	Aorta
12	chr2:153503200-153512200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:153503400-153512800	Weak transcription	Fetal Stomach	stomach
14	chr2:153503600-153512400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:153503800-153514600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153504600-153512200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:153504600-153512800	Weak transcription	Lung	lung
19	chr2:153504600-153513600	Weak transcription	Fetal Kidney	kidney
20	chr2:153504600-153514800	Weak transcription	Fetal Heart	heart
21	chr2:153504600-153516000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:153504800-153512200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:153505000-153512200	Weak transcription	Psoas Muscle	Psoas
24	chr2:153505000-153512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153505000-153512400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:153505000-153512600	Weak transcription	Fetal Brain Male	brain
27	chr2:153505000-153513200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:153505000-153513200	Weak transcription	Pancreas	Pancrea
29	chr2:153505000-153513400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:153505000-153515200	Weak transcription	Ovary	ovary
31	chr2:153505000-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153505000-153517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:153505000-153517400	Weak transcription	Gastric	stomach
34	chr2:153505000-153517400	Weak transcription	Right Ventricle	heart
35	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
36	chr2:153505200-153513400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:153505200-153514800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:153505400-153512800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:153505400-153512800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:153505400-153513400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:153505400-153513400	Weak transcription	Brain Anterior Caudate	brain
42	chr2:153505400-153513400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:153505400-153513400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:153505400-153517000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:153505400-153539200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:153505400-153540200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:153505600-153512400	Weak transcription	NHEK	skin
48	chr2:153505600-153512800	Weak transcription	Brain Germinal Matrix	brain
49	chr2:153505600-153515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:153505600-153516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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