Variant report

Variant	rs7742941
Chromosome Location	chr6:4814469-4814470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4813237..4814770-chr6:4815633..4817552,2	MCF-7	breast:
2	chr6:4813316..4814921-chr6:4820948..4822599,2	MCF-7	breast:
3	chr6:4747693..4749974-chr6:4813996..4815589,2	K562	blood:
4	chr6:4810817..4812587-chr6:4814121..4815809,2	K562	blood:
5	chr6:4812864..4816772-chr6:4818234..4821083,3	MCF-7	breast:
6	chr6:4809930..4812317-chr6:4814309..4817023,2	K562	blood:
7	chr6:4810561..4812233-chr6:4812565..4815063,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11961156	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11961513	1.00[ASN][1000 genomes]
rs11962926	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11967830	1.00[ASN][1000 genomes]
rs179822	1.00[ASN][1000 genomes]
rs2009326	1.00[ASN][1000 genomes]
rs2063674	1.00[ASN][1000 genomes]
rs2063675	1.00[ASN][1000 genomes]
rs2063676	1.00[ASN][1000 genomes]
rs233478	1.00[ASN][1000 genomes]
rs60624800	1.00[ASN][1000 genomes]
rs6938682	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6939444	1.00[ASN][1000 genomes]
rs73360686	1.00[ASN][1000 genomes]
rs73362505	1.00[ASN][1000 genomes]
rs7739005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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:74 , 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	chr6:4803400-4814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:4806800-4820200	Weak transcription	NHLF	lung
6	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:4807000-4817400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:4807600-4814600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:4807600-4817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:4808800-4818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:4810200-4816600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:4810400-4816200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:4811000-4815200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:4811000-4815800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:4811200-4817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:4811200-4820000	Weak transcription	Colonic Mucosa	Colon
21	chr6:4811200-4820000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:4811200-4820000	Weak transcription	Spleen	Spleen
23	chr6:4811800-4815800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:4811800-4820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:4812000-4818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:4812400-4814600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:4812400-4814800	Weak transcription	Esophagus	oesophagus
28	chr6:4812400-4814800	Weak transcription	Lung	lung
29	chr6:4812400-4817200	Weak transcription	Gastric	stomach
30	chr6:4812400-4820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:4812400-4820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:4812400-4820000	Weak transcription	Placenta	Placenta
33	chr6:4812400-4820000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
35	chr6:4812600-4814600	Weak transcription	Small Intestine	intestine
36	chr6:4812600-4814800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:4812600-4815600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:4812600-4816800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:4812600-4817400	Weak transcription	Psoas Muscle	Psoas
40	chr6:4812600-4820200	Weak transcription	Right Ventricle	heart
41	chr6:4812600-4820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:4812600-4826800	Weak transcription	HepG2	liver
43	chr6:4812800-4814600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:4812800-4814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:4812800-4814600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:4812800-4814600	Enhancers	HUVEC	blood vessel
47	chr6:4812800-4816200	Weak transcription	NHEK	skin
48	chr6:4812800-4816600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:4812800-4817000	Weak transcription	HMEC	breast
50	chr6:4812800-4817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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