Variant report

Variant	rs2167994
Chromosome Location	chr1:77772499-77772500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1616948	0.98[ASN][1000 genomes]
rs1670616	0.94[ASN][1000 genomes]
rs1721166	0.98[ASN][1000 genomes]
rs1823840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869467	0.82[ASN][1000 genomes]
rs4949789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949790	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6696968	0.81[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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:77755200-77781600	Weak transcription	Osteobl	bone
6	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
7	chr1:77756800-77781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:77757600-77777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:77758000-77778400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:77759000-77781600	Weak transcription	NHLF	lung
11	chr1:77767200-77773600	Weak transcription	HSMM	muscle
12	chr1:77767400-77773400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:77767400-77774200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:77767600-77774400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:77767600-77776600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:77767800-77773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:77769400-77773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:77769600-77772600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:77769600-77774200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:77769600-77774200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:77771800-77780200	Strong transcription	NHDF-Ad	bronchial
22	chr1:77772200-77774800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:77772400-77773000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:77772400-77774600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:77772400-77774800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:77772400-77775000	Enhancers	Primary T cells from cord blood	blood
27	chr1:77772400-77776000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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