Variant report

Variant	rs4713475
Chromosome Location	chr6:11378612-11378613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1012503	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10947217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751505	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11756278	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12661807	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17507230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074864	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4318876	0.88[ASN][1000 genomes]
rs4713459	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713474	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713478	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55918622	0.88[ASN][1000 genomes]
rs56144403	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56155385	0.88[ASN][1000 genomes]
rs56317766	0.88[ASN][1000 genomes]
rs56711429	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59349836	0.88[ASN][1000 genomes]
rs61650802	0.88[ASN][1000 genomes]
rs6901538	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72832925	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72832932	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72832935	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72832944	0.88[ASN][1000 genomes]
rs73366900	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7740502	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11364600-11381200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:11369000-11380200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:11371200-11380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:11374000-11381200	Weak transcription	Dnd41	blood
5	chr6:11374800-11381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:11374800-11382200	Weak transcription	Small Intestine	intestine
7	chr6:11375200-11380000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:11375400-11380800	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr6:11375800-11379000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:11376000-11380600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:11376800-11380000	Genic enhancers	Primary B cells from cord blood	blood
12	chr6:11377000-11378800	Genic enhancers	Lung	lung
13	chr6:11377400-11379000	Weak transcription	Primary T cells from cord blood	blood
14	chr6:11377400-11380200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:11377600-11379200	Weak transcription	Thymus	Thymus
16	chr6:11377600-11380200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:11377800-11379000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:11377800-11379200	Weak transcription	Spleen	Spleen
19	chr6:11377800-11380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:11377800-11380200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:11377800-11380800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:11377800-11386600	Weak transcription	HepG2	liver
23	chr6:11378000-11379400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr6:11378200-11379000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:11378200-11379000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:11378200-11379000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:11378200-11380000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:11378200-11381400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:11378400-11378800	ZNF genes & repeats	Fetal Thymus	thymus
30	chr6:11378400-11379000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:11378600-11378800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr6:11378600-11378800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr6:11378600-11379000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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