Variant report

Variant	rs1167213
Chromosome Location	chr1:77788003-77788004
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	chr1:77786657..77790465-chr1:77794165..77797983,5	K562	blood:
2	chr1:77781240..77784199-chr1:77786063..77789429,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1167216	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1179473	0.85[AFR][1000 genomes]
rs1869469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602927	1.00[AMR][1000 genomes]
rs2602928	1.00[AMR][1000 genomes]
rs2602931	1.00[AMR][1000 genomes]
rs2602932	0.88[AFR][1000 genomes]
rs2602949	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815329	0.88[AFR][1000 genomes]
rs2815335	1.00[AMR][1000 genomes]
rs936004	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv2756848	chr1:77775014-77788462	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2758945	chr1:77775014-77788462	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
2	chr1:77774000-77790400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:77777000-77794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:77779400-77794400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:77779600-77794600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:77781400-77790000	Enhancers	NHDF-Ad	bronchial
7	chr1:77785000-77789800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:77785200-77789600	Weak transcription	Brain Anterior Caudate	brain
9	chr1:77785200-77794400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:77785200-77799200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77786800-77789000	Enhancers	NHLF	lung
12	chr1:77786800-77790400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:77787200-77788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:77787200-77790600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:77787400-77788200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:77787400-77788600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:77787400-77788600	Enhancers	NH-A	brain
18	chr1:77787400-77789000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:77787600-77788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:77787600-77788600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:77787600-77788800	Enhancers	NHEK	skin
22	chr1:77787600-77789200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:77787600-77790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:77787800-77788200	Active TSS	A549	lung
25	chr1:77787800-77788400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:77787800-77788600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:77787800-77788600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:77787800-77788600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:77787800-77788600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:77787800-77788600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:77787800-77788600	Enhancers	Brain Angular Gyrus	brain
32	chr1:77787800-77788600	Enhancers	HepG2	liver
33	chr1:77787800-77788800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:77787800-77788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:77787800-77789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:77787800-77789000	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:77787800-77790600	Enhancers	Brain Hippocampus Middle	brain
38	chr1:77788000-77788400	Flanking Active TSS	Osteobl	bone
39	chr1:77788000-77788600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:77788000-77788600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:77788000-77788600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:77788000-77788600	Enhancers	HMEC	breast
43	chr1:77788000-77788600	Enhancers	HSMM	muscle
44	chr1:77788000-77788600	Enhancers	K562	blood

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