Variant report

Variant	rs1022498
Chromosome Location	chr6:4818362-4818363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4818061..4820249-chr6:4821057..4823900,2	MCF-7	breast:
2	chr6:4812864..4816772-chr6:4818234..4821083,3	MCF-7	breast:
3	chr6:4815291..4819346-chr6:4820857..4822798,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022497	1.00[AFR][1000 genomes]
rs11967447	0.92[AFR][1000 genomes]
rs11967765	0.97[AFR][1000 genomes]
rs11967801	0.97[AFR][1000 genomes]
rs11967926	0.92[AFR][1000 genomes]
rs11968053	0.92[AFR][1000 genomes]
rs1265329	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1265331	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2875969	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4367417	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs56740053	0.84[AFR][1000 genomes]
rs57143473	0.84[AFR][1000 genomes]
rs57484544	0.84[AFR][1000 genomes]
rs57890105	0.92[AFR][1000 genomes]
rs59852455	0.84[AFR][1000 genomes]
rs60632423	0.92[AFR][1000 genomes]
rs6911106	0.92[AFR][1000 genomes]
rs6922314	0.84[AFR][1000 genomes]
rs6934189	0.84[AFR][1000 genomes]
rs6936040	0.97[AFR][1000 genomes]
rs6939986	0.92[AFR][1000 genomes]
rs7744408	1.00[AFR][1000 genomes]
rs7744582	0.92[AFR][1000 genomes]
rs7747385	0.84[AFR][1000 genomes]
rs7748721	1.00[AFR][1000 genomes]
rs7762268	0.84[AFR][1000 genomes]
rs7764676	0.92[AFR][1000 genomes]
rs7764795	0.92[AFR][1000 genomes]
rs7765321	0.92[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap]
rs808623	1.00[YRI][hapmap]
rs808624	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:4806800-4820200	Weak transcription	NHLF	lung
5	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:4808800-4818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:4811200-4820000	Weak transcription	Colonic Mucosa	Colon
12	chr6:4811200-4820000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:4811200-4820000	Weak transcription	Spleen	Spleen
14	chr6:4811800-4820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:4812400-4820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:4812400-4820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:4812400-4820000	Weak transcription	Placenta	Placenta
18	chr6:4812400-4820000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
20	chr6:4812600-4820200	Weak transcription	Right Ventricle	heart
21	chr6:4812600-4820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:4812600-4826800	Weak transcription	HepG2	liver
23	chr6:4812800-4819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:4812800-4819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:4812800-4822800	Weak transcription	Adipose Nuclei	Adipose
26	chr6:4812800-4823000	Weak transcription	Primary T cells from cord blood	blood
27	chr6:4812800-4828800	Weak transcription	Hela-S3	cervix
28	chr6:4813200-4820200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:4813400-4820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:4815000-4821000	Weak transcription	Fetal Intestine Small	intestine
32	chr6:4815000-4826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:4815000-4827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:4815200-4823000	Weak transcription	Ovary	ovary
35	chr6:4815200-4824200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:4815200-4829600	Weak transcription	Lung	lung
37	chr6:4815400-4819000	Weak transcription	GM12878-XiMat	blood
38	chr6:4815400-4819600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:4815400-4820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:4815600-4820400	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:4815800-4818600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:4816000-4818600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:4816200-4818600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:4816200-4820800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:4816400-4819000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:4817000-4819800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:4817200-4818400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:4817200-4818600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:4817200-4820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:4817600-4818400	Enhancers	Muscle Satellite Cultured Cells	--

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