Variant report

Variant	rs6667540
Chromosome Location	chr1:93718643-93718644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93716580..93719392-chr1:93724593..93726917,2	K562	blood:
2	chr1:93717824..93719584-chr1:93817437..93819207,2	K562	blood:
3	chr1:93717455..93719072-chr1:93721833..93723353,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10489733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164911	1.00[JPT][hapmap]
rs11799543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800760	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801977	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11802420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805267	1.00[EUR][1000 genomes]
rs11807404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs11808445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619816	1.00[CHB][hapmap]
rs2785596	1.00[CHB][hapmap]
rs2815413	1.00[JPT][hapmap]
rs28829343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41528947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847409	1.00[JPT][hapmap]
rs522999	1.00[JPT][hapmap]
rs556888	1.00[JPT][hapmap]
rs55734759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55738503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56281837	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs571212	1.00[JPT][hapmap]
rs573056	1.00[JPT][hapmap]
rs581825	1.00[JPT][hapmap]
rs58505360	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58770710	1.00[EUR][1000 genomes]
rs58807475	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59368083	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60079850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60497651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60813039	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61252284	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61671588	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61690932	1.00[EUR][1000 genomes]
rs61729705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628714	1.00[JPT][hapmap]
rs637198	1.00[JPT][hapmap]
rs6541348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541398	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658877	1.00[JPT][hapmap]
rs6663752	1.00[EUR][1000 genomes]
rs6664190	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677114	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679630	1.00[ASN][1000 genomes]
rs6688199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs668944	1.00[JPT][hapmap]
rs6689867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6695142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701683	1.00[ASN][1000 genomes]
rs6704067	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.82[ASN][1000 genomes]
rs72957300	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959240	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959255	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959260	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959267	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959273	1.00[ASN][1000 genomes]
rs72961310	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101470	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74104014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519163	1.00[JPT][hapmap]
rs7527459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540960	1.00[ASN][1000 genomes]
rs7544352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545154	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754899	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8489	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.83[AMR][1000 genomes]
rs9662414	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
6	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
8	chr1:93706400-93727000	Weak transcription	K562	blood
9	chr1:93707000-93727400	Weak transcription	Liver	Liver
10	chr1:93708800-93720200	Weak transcription	NHLF	lung
11	chr1:93709000-93719000	Weak transcription	NHDF-Ad	bronchial
12	chr1:93709000-93719800	Weak transcription	HSMM	muscle
13	chr1:93709000-93720800	Weak transcription	Osteobl	bone
14	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:93709000-93728200	Weak transcription	HMEC	breast
19	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:93709600-93719000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:93709600-93720200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:93709600-93725000	Weak transcription	HepG2	liver
24	chr1:93709600-93725600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:93709600-93727000	Weak transcription	NHEK	skin
26	chr1:93709800-93727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:93709800-93727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:93710000-93721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:93710000-93727000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:93710200-93721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:93710200-93722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:93710200-93724200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:93710200-93727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:93710600-93724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:93710800-93720000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:93711000-93719800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:93711600-93727000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:93713200-93727000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:93713400-93721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:93715200-93720800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:93716200-93719000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:93716200-93728400	Weak transcription	Pancreas	Pancrea
43	chr1:93716400-93719400	ZNF genes & repeats	GM12878-XiMat	blood
44	chr1:93716800-93727600	Weak transcription	Fetal Kidney	kidney
45	chr1:93717000-93718800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr1:93717200-93719200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:93717200-93726200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:93717400-93718800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:93717400-93719200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr1:93717600-93718800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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