Variant report

Variant	rs61412539
Chromosome Location	chr1:9705352-9705353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72869644	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869645	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869651	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869654	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869655	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869660	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869663	0.90[AFR][1000 genomes]
rs72869669	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7553125	1.00[EUR][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9690400-9709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:9697400-9711400	Weak transcription	Esophagus	oesophagus
3	chr1:9697800-9711400	Weak transcription	Right Atrium	heart
4	chr1:9698200-9708000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:9702000-9711400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:9702200-9709800	Weak transcription	Dnd41	blood
7	chr1:9702200-9711000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:9702800-9705600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:9702800-9707400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:9702800-9711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:9703000-9705600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:9703000-9705600	Enhancers	Fetal Thymus	thymus
13	chr1:9703000-9706600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:9703000-9711200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:9703200-9705600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:9703200-9706400	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:9703600-9705400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:9703800-9705400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:9703800-9705400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:9703800-9705400	Enhancers	Hela-S3	cervix
21	chr1:9704000-9705400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:9704200-9705400	Enhancers	GM12878-XiMat	blood
23	chr1:9704200-9706000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:9704200-9706400	Weak transcription	K562	blood
25	chr1:9704400-9705600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:9704400-9705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:9704400-9706000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:9704400-9708600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:9704400-9711200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:9704600-9705400	Enhancers	HMEC	breast
31	chr1:9704600-9705400	Enhancers	NHEK	skin
32	chr1:9704800-9705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:9704800-9705400	Enhancers	Thymus	Thymus
34	chr1:9705000-9706600	Enhancers	Primary T cells from cord blood	blood
35	chr1:9705000-9708200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:9705000-9710800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:9705000-9710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:9705000-9711000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:9705200-9705400	Enhancers	Adipose Nuclei	Adipose
40	chr1:9705200-9705400	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:9705200-9706600	Enhancers	Primary B cells from cord blood	blood
42	chr1:9705200-9708600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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