Variant report

Variant	rs1265334
Chromosome Location	chr6:4792419-4792420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4792198..4795209-chr6:4799398..4802329,4	K562	blood:
2	chr6:4788250..4792483-chr6:4794003..4797255,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1016877	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11967994	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11968021	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1265332	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1265333	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1265335	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17138856	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs184588	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2179269	0.81[EUR][1000 genomes]
rs2179270	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233476	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748078	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61610972	0.85[EUR][1000 genomes]
rs62386574	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62386575	0.89[EUR][1000 genomes]
rs62386576	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62386577	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62386578	0.88[EUR][1000 genomes]
rs62386582	0.85[EUR][1000 genomes]
rs62386584	0.85[EUR][1000 genomes]
rs62386585	0.85[EUR][1000 genomes]
rs62386587	0.84[EUR][1000 genomes]
rs62386590	0.81[EUR][1000 genomes]
rs6910368	0.89[EUR][1000 genomes]
rs6918626	0.84[EUR][1000 genomes]
rs73362560	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs808593	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs808598	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs808600	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs808606	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs808607	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs808635	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9504254	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4781400-4794000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:4781400-4794400	Weak transcription	NHLF	lung
3	chr6:4781600-4797800	Weak transcription	Hela-S3	cervix
4	chr6:4781800-4794200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:4782000-4794400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:4782000-4797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:4785400-4794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:4786600-4793400	Weak transcription	A549	lung
9	chr6:4787200-4794400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:4787400-4793200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:4787400-4794000	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
13	chr6:4787600-4794400	Weak transcription	NHEK	skin
14	chr6:4789400-4794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:4789800-4793400	Weak transcription	Right Atrium	heart
16	chr6:4789800-4794400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:4789800-4794400	Weak transcription	Esophagus	oesophagus
18	chr6:4790000-4792800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:4790000-4793400	Weak transcription	Left Ventricle	heart
20	chr6:4790000-4794000	Weak transcription	Spleen	Spleen
21	chr6:4790000-4794200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:4790000-4794200	Weak transcription	Colonic Mucosa	Colon
23	chr6:4790000-4794400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:4790000-4799800	Weak transcription	Ovary	ovary
25	chr6:4790200-4792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:4790200-4793400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:4790200-4793400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:4790200-4793400	Weak transcription	Lung	lung
29	chr6:4790200-4793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:4790200-4793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:4790200-4793800	Weak transcription	Psoas Muscle	Psoas
32	chr6:4790200-4794200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:4790200-4794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:4790200-4794400	Weak transcription	Gastric	stomach
35	chr6:4790200-4803200	Weak transcription	Pancreas	Pancrea
36	chr6:4790400-4792800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:4790400-4793200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:4790400-4793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:4790400-4794000	Weak transcription	Small Intestine	intestine
40	chr6:4790400-4794400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:4790400-4794400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:4790600-4794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:4790600-4794200	Weak transcription	Stomach Mucosa	stomach
44	chr6:4790600-4794400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:4790600-4801600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:4790800-4793000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:4790800-4793200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:4790800-4793400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:4790800-4793400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:4790800-4794000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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