Variant report

Variant	rs1057256
Chromosome Location	chr1:93621341-93621342
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93610465..93612424-chr1:93619374..93622309,4	K562	blood:
2	chr1:93613005..93617046-chr1:93618640..93622710,7	K562	blood:
3	chr1:93609299..93611965-chr1:93618849..93621976,3	K562	blood:
4	chr1:93619843..93621519-chr1:93631084..93633195,2	MCF-7	breast:
5	chr1:93615023..93617502-chr1:93621037..93623418,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10489733	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1054165	0.82[ASN][1000 genomes]
rs11799543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801563	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801977	0.82[ASN][1000 genomes]
rs11802420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802421	0.91[AMR][1000 genomes]
rs11802822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805267	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11807404	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11808445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1932313	0.82[ASN][1000 genomes]
rs28829343	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3171	1.00[ASN][1000 genomes]
rs41528947	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55734759	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55738503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56281837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs58505360	0.91[AMR][1000 genomes]
rs58770710	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58807475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59368083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60079850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60497651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60813039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60868033	0.82[ASN][1000 genomes]
rs61252284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61671588	0.91[AMR][1000 genomes]
rs61690932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61729705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6541348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6541360	0.91[AMR][1000 genomes]
rs6541398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663752	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[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]
rs6677862	0.82[ASN][1000 genomes]
rs6679304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6688199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688513	0.82[ASN][1000 genomes]
rs6689867	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6691556	0.82[ASN][1000 genomes]
rs6695142	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704067	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955374	0.82[ASN][1000 genomes]
rs72955379	0.82[ASN][1000 genomes]
rs72955402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72957300	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959225	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959245	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959267	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961310	0.91[AMR][1000 genomes]
rs72961322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101439	0.82[ASN][1000 genomes]
rs74101458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101470	0.83[AMR][1000 genomes];1.00[EUR][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]
rs7518171	0.91[AMR][1000 genomes]
rs7518930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7529230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533526	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544352	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545154	1.00[EUR][1000 genomes]
rs7545358	0.91[AMR][1000 genomes]
rs7548629	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs754899	0.91[AMR][1000 genomes]
rs8489	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9662414	0.91[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
2	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
4	chr1:93580000-93624000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:93582400-93642800	Weak transcription	Gastric	stomach
7	chr1:93583200-93628800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:93583600-93623800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:93583600-93635400	Weak transcription	Pancreas	Pancrea
10	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
11	chr1:93586200-93623400	Weak transcription	Fetal Brain Male	brain
12	chr1:93595800-93635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:93597400-93625400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:93600400-93635400	Weak transcription	Spleen	Spleen
15	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
16	chr1:93601400-93635400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:93602600-93624200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:93602600-93628800	Weak transcription	Aorta	Aorta
19	chr1:93602600-93630200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:93602600-93630200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:93603400-93624600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:93603600-93621800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:93603600-93629200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:93606800-93621800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:93606800-93623600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:93606800-93635400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:93609000-93627400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:93611200-93626200	Strong transcription	Fetal Thymus	thymus
30	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:93613000-93626000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:93613000-93626000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:93613200-93625000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:93613200-93626200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:93613200-93627800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:93613400-93623000	Strong transcription	Primary B cells from cord blood	blood
37	chr1:93613400-93625000	Strong transcription	HSMM	muscle
38	chr1:93613400-93625200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:93613600-93624600	Weak transcription	Fetal Heart	heart
40	chr1:93613600-93625600	Strong transcription	Adipose Nuclei	Adipose
41	chr1:93613600-93625800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:93613800-93625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:93614000-93625800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:93614000-93626000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:93614000-93626200	Strong transcription	Liver	Liver
46	chr1:93614200-93625800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:93614200-93630200	Weak transcription	Right Atrium	heart
48	chr1:93614200-93634800	Weak transcription	A549	lung
49	chr1:93614400-93622000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:93614400-93625800	Strong transcription	Osteobl	bone

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