Variant report

Variant	rs61252284
Chromosome Location	chr1:93639335-93639336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93638069..93640973-chr1:93641703..93643320,2	K562	blood:
2	chr1:93632484..93634850-chr1:93639187..93641341,2	K562	blood:
3	chr1:93635790..93638492-chr1:93639188..93641506,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10489733	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1057256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11799543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11799928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11800760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801563	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11802420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11802421	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11802822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805267	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807404	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11808445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12239183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28829343	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3171	0.82[ASN][1000 genomes]
rs41528947	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55734759	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55738503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56401576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56657492	1.00[ASN][1000 genomes]
rs58505360	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58770710	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58807475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59368083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59609847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60079850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60497651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60813039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61671588	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61690932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61729705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541360	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6541398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6663752	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6664190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6667540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677114	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679630	0.82[ASN][1000 genomes]
rs6688199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6689867	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695142	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6701683	0.82[ASN][1000 genomes]
rs6704067	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72955402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72957300	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959245	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959267	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959273	0.82[ASN][1000 genomes]
rs72961310	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72961322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72961328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101458	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101470	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74104014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7518171	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7518930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7527459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7529230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533526	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7537939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7540960	0.82[ASN][1000 genomes]
rs7544352	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7545154	1.00[EUR][1000 genomes]
rs7545358	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7548629	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754899	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8489	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9324347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9662414	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:93582400-93642800	Weak transcription	Gastric	stomach
3	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
4	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
5	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:93615600-93643200	Weak transcription	Fetal Kidney	kidney
8	chr1:93621400-93640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:93621400-93643000	Weak transcription	HMEC	breast
10	chr1:93621400-93643800	Weak transcription	Colonic Mucosa	Colon
11	chr1:93621600-93641400	Weak transcription	NHEK	skin
12	chr1:93624000-93643400	Weak transcription	NH-A	brain
13	chr1:93624000-93643600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:93624400-93643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:93624800-93641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:93624800-93643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:93624800-93643600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:93625000-93640000	Weak transcription	K562	blood
19	chr1:93625000-93641200	Weak transcription	HSMM	muscle
20	chr1:93625800-93640200	Weak transcription	HUVEC	blood vessel
21	chr1:93625800-93641600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:93625800-93643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:93626000-93641200	Weak transcription	NHDF-Ad	bronchial
24	chr1:93630400-93641600	Weak transcription	Right Atrium	heart
25	chr1:93630800-93642000	Weak transcription	Left Ventricle	heart
26	chr1:93632800-93639600	Weak transcription	Psoas Muscle	Psoas
27	chr1:93632800-93640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:93633400-93643600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:93634200-93642000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:93634400-93640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:93634600-93643000	Weak transcription	Right Ventricle	heart
32	chr1:93634800-93639400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:93636200-93640000	Weak transcription	Thymus	Thymus
34	chr1:93636200-93642200	Weak transcription	Lung	lung
35	chr1:93636200-93642800	Weak transcription	Fetal Brain Female	brain
36	chr1:93636200-93642800	Weak transcription	Pancreas	Pancrea
37	chr1:93636200-93643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:93636200-93643400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:93636200-93644000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:93636200-93644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:93636400-93640200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:93636400-93642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:93636400-93643800	Weak transcription	Fetal Stomach	stomach
44	chr1:93636600-93641600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:93636600-93641600	Weak transcription	Spleen	Spleen
46	chr1:93636600-93642000	Weak transcription	Fetal Intestine Small	intestine
47	chr1:93636600-93642200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:93636600-93642800	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:93637000-93640000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:93637000-93640000	Weak transcription	Fetal Thymus	thymus

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