Variant report

Variant	rs60497651
Chromosome Location	chr1:93628521-93628522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93543522..93546354-chr1:93625761..93628726,2	K562	blood:

Variant related genes	Relation type
ENSG00000143033	Chromatin interaction

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]
rs1057256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799928	0.90[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805267	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11807404	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11808445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.95[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.90[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	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58807475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59368083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60079850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60813039	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.90[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	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664190	0.94[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675991	0.95[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6688199	1.00[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	0.89[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72957300	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959225	0.83[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	0.90[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	0.94[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.95[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
2	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:93582400-93642800	Weak transcription	Gastric	stomach
4	chr1:93583200-93628800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:93583600-93635400	Weak transcription	Pancreas	Pancrea
6	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
7	chr1:93595800-93635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:93600400-93635400	Weak transcription	Spleen	Spleen
9	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
10	chr1:93601400-93635400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:93602600-93628800	Weak transcription	Aorta	Aorta
12	chr1:93602600-93630200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:93602600-93630200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:93603600-93629200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:93606800-93635400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:93614200-93630200	Weak transcription	Right Atrium	heart
19	chr1:93614200-93634800	Weak transcription	A549	lung
20	chr1:93615200-93630200	Weak transcription	Psoas Muscle	Psoas
21	chr1:93615600-93643200	Weak transcription	Fetal Kidney	kidney
22	chr1:93618200-93630800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:93618600-93630200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:93620800-93635600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:93621400-93630200	Weak transcription	Small Intestine	intestine
26	chr1:93621400-93632000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:93621400-93632200	Weak transcription	Fetal Stomach	stomach
28	chr1:93621400-93635400	Weak transcription	Thymus	Thymus
29	chr1:93621400-93635600	Weak transcription	Lung	lung
30	chr1:93621400-93636800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:93621400-93637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:93621400-93640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:93621400-93643000	Weak transcription	HMEC	breast
34	chr1:93621400-93643800	Weak transcription	Colonic Mucosa	Colon
35	chr1:93621600-93641400	Weak transcription	NHEK	skin
36	chr1:93622200-93631400	Weak transcription	Fetal Brain Female	brain
37	chr1:93622200-93637200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:93622400-93636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:93623200-93633200	Weak transcription	Hela-S3	cervix
40	chr1:93624000-93637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:93624000-93643400	Weak transcription	NH-A	brain
42	chr1:93624000-93643600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:93624200-93636400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:93624400-93643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:93624800-93636400	Weak transcription	Primary T cells from cord blood	blood
46	chr1:93624800-93641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:93624800-93643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:93624800-93643600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:93625000-93630200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:93625000-93630600	Weak transcription	Stomach Smooth Muscle	stomach

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