Variant report

Variant	rs6696127
Chromosome Location	chr1:98407367-98407368
allele	C/T
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:7)

rs_ID	r²[population]
rs12060207	1.00[ASN][1000 genomes]
rs72963714	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963721	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963731	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72981743	1.00[ASN][1000 genomes]
rs72981753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72981758	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98402800-98407800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:98403800-98407800	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:98404000-98407400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:98404000-98407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:98404000-98407800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:98404000-98408200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:98404000-98409000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:98404200-98407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:98404200-98407800	Weak transcription	NH-A	brain
10	chr1:98404200-98409000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:98404200-98409000	Weak transcription	NHLF	lung
12	chr1:98404400-98408000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:98404400-98408000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:98404600-98407400	Weak transcription	HUVEC	blood vessel
15	chr1:98404600-98407600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:98404600-98407800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:98404600-98407800	Weak transcription	NHEK	skin
18	chr1:98404600-98408000	Weak transcription	Osteobl	bone
19	chr1:98404600-98408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:98404600-98408200	Weak transcription	HSMM	muscle
21	chr1:98404600-98408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:98404800-98407600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:98404800-98407800	Weak transcription	Hela-S3	cervix
24	chr1:98404800-98407800	Weak transcription	HMEC	breast
25	chr1:98404800-98408400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:98406400-98407400	Enhancers	Dnd41	blood
27	chr1:98406400-98407800	Enhancers	Primary T cells from cord blood	blood
28	chr1:98407000-98407800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:98407000-98407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:98407000-98410200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:98407200-98409000	Enhancers	NHDF-Ad	bronchial
32	chr1:98407200-98409600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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