Variant report

Variant	rs10737686
Chromosome Location	chr1:197068200-197068201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10801582	0.86[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs10801583	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10801584	0.80[AMR][1000 genomes]
rs10801586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922151	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10922162	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922167	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922168	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922177	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs10922179	0.87[EUR][1000 genomes]
rs12028827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12034362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12075161	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12085377	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12116643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12128631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12134960	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12137359	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1332660	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1332664	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1412636	0.80[EUR][1000 genomes]
rs2298883	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4639796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4915344	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5993	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61819092	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738632	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv946564	chr1:197066834-197069838	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197051400-197069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:197051800-197069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:197052200-197076200	Weak transcription	NHLF	lung
5	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
6	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:197052400-197068800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:197052400-197069200	Strong transcription	Fetal Thymus	thymus
10	chr1:197052600-197068600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:197054000-197071200	Weak transcription	Brain Germinal Matrix	brain
12	chr1:197054200-197071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
14	chr1:197054600-197072400	Weak transcription	Thymus	Thymus
15	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:197055200-197068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:197055400-197069400	Strong transcription	Dnd41	blood
18	chr1:197055600-197068600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:197055600-197074000	Weak transcription	Placenta	Placenta
20	chr1:197057000-197069200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:197057200-197071800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:197057200-197073200	Weak transcription	NHEK	skin
23	chr1:197057800-197069800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:197058800-197070800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:197059600-197069200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:197060000-197073800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:197060400-197071200	Weak transcription	Fetal Lung	lung
28	chr1:197060400-197072400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:197061000-197068800	Weak transcription	Osteobl	bone
30	chr1:197061200-197073200	Weak transcription	HepG2	liver
31	chr1:197061800-197072000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:197062000-197069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:197063000-197069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:197063000-197072400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:197063000-197072400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:197063000-197072400	Weak transcription	GM12878-XiMat	blood
39	chr1:197063000-197072600	Weak transcription	A549	lung
40	chr1:197063000-197072600	Weak transcription	HUVEC	blood vessel
41	chr1:197063000-197072800	Weak transcription	NH-A	brain
42	chr1:197063000-197073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:197063200-197072400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:197063600-197069800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:197063600-197072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:197064000-197073000	Weak transcription	HMEC	breast
47	chr1:197064200-197072800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:197064600-197070000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:197064600-197073000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:197064800-197072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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