Variant report

Variant	rs6694248
Chromosome Location	chr1:92711407-92711408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1077783	0.91[EUR][1000 genomes]
rs11164423	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11166127	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11166136	0.91[EUR][1000 genomes]
rs11166137	0.91[EUR][1000 genomes]
rs11166542	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12070923	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12071093	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12073894	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12077180	0.91[EUR][1000 genomes]
rs12078746	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12090761	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12098095	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs12142556	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs17131599	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17131621	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35413685	0.91[EUR][1000 genomes]
rs4617457	0.91[EUR][1000 genomes]
rs55993081	0.88[AMR][1000 genomes]
rs56112620	1.00[EUR][1000 genomes]
rs56665661	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57992264	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58142139	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58820626	0.86[AMR][1000 genomes]
rs60265386	0.86[AMR][1000 genomes]
rs60755573	0.86[AMR][1000 genomes]
rs61185080	0.86[AMR][1000 genomes]
rs61410146	0.86[AMR][1000 genomes]
rs6603970	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6660858	1.00[CEU][hapmap]
rs6662381	0.91[EUR][1000 genomes]
rs6662565	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6671543	0.88[AMR][1000 genomes]
rs6672838	1.00[CEU][hapmap]
rs6679259	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6679419	1.00[EUR][1000 genomes]
rs6681027	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6691918	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6695475	1.00[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954776	1.00[EUR][1000 genomes]
rs72954787	1.00[EUR][1000 genomes]
rs72954791	1.00[EUR][1000 genomes]
rs72956803	0.91[EUR][1000 genomes]
rs72958703	1.00[EUR][1000 genomes]
rs72958746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958774	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958781	0.86[AMR][1000 genomes]
rs72958796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960831	0.93[AMR][1000 genomes]
rs72960835	0.93[AMR][1000 genomes]
rs72960860	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72960870	0.93[AMR][1000 genomes]
rs7513631	0.93[AMR][1000 genomes]
rs7519603	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7520555	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs7520675	0.88[AMR][1000 genomes]
rs7522789	1.00[EUR][1000 genomes]
rs7525174	0.86[AMR][1000 genomes]
rs7527960	0.83[AMR][1000 genomes]
rs7529971	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7535181	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7542362	1.00[CEU][hapmap]
rs7542736	1.00[CEU][hapmap]
rs7546528	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9661440	1.00[CEU][hapmap];0.91[EUR][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	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1794222	chr1:92711407-92735359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:92708600-92712000	Weak transcription	Osteobl	bone
6	chr1:92708800-92712200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:92709000-92711600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:92709000-92711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:92709000-92711600	Weak transcription	HUVEC	blood vessel
10	chr1:92709000-92712000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:92709000-92712200	Weak transcription	Fetal Lung	lung
12	chr1:92709000-92712200	Weak transcription	Fetal Stomach	stomach
13	chr1:92709000-92717400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:92709000-92718800	Weak transcription	Lung	lung
15	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:92709200-92712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:92709200-92718800	Weak transcription	Pancreas	Pancrea
19	chr1:92709400-92712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:92709400-92712200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:92709400-92712400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:92709600-92730800	Weak transcription	Hela-S3	cervix
24	chr1:92710000-92711600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:92710000-92711600	Weak transcription	Primary T cells from cord blood	blood
26	chr1:92710000-92711600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:92710000-92711600	Weak transcription	Liver	Liver
28	chr1:92710000-92712200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:92710000-92712200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:92710000-92712200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:92710000-92712200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:92710000-92712200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:92710000-92712200	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:92710000-92712200	Weak transcription	Ovary	ovary
35	chr1:92710000-92712200	Weak transcription	Thymus	Thymus
36	chr1:92710000-92717800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:92710000-92737600	Weak transcription	HSMM	muscle
38	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:92710200-92715000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:92710200-92717400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:92710200-92717800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:92710200-92717800	Weak transcription	Placenta	Placenta
43	chr1:92710200-92718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:92710200-92718800	Weak transcription	Left Ventricle	heart
45	chr1:92710200-92718800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:92710400-92712800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:92710400-92713200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:92710400-92718600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:92710400-92724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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