Variant report

Variant	rs681919
Chromosome Location	chr6:149735600-149735601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs17086451	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2341783	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2341784	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2744427	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2744428	0.86[EUR][1000 genomes]
rs2744431	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2744433	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2744434	1.00[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789487	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2789489	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789490	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2789500	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3734296	1.00[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs4360154	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs472620	0.84[EUR][1000 genomes]
rs472810	0.84[EUR][1000 genomes]
rs474369	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs478531	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs478767	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs480526	0.88[CEU][hapmap]
rs480778	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs481769	0.83[EUR][1000 genomes]
rs4897117	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs490529	0.84[EUR][1000 genomes]
rs492956	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs494340	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs501926	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs504762	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs511105	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs513923	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs515133	1.00[CEU][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs518879	0.84[EUR][1000 genomes]
rs522646	0.84[EUR][1000 genomes]
rs527971	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs532008	0.84[EUR][1000 genomes]
rs532250	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs533026	0.84[EUR][1000 genomes]
rs538386	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs554926	0.86[EUR][1000 genomes]
rs556335	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs559052	1.00[CEU][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs559204	0.84[EUR][1000 genomes]
rs564405	0.83[EUR][1000 genomes]
rs565825	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs570442	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs588028	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60006373	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs600739	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs630642	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs641068	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs652514	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs652921	1.00[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs663625	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs674919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs92605	0.84[EUR][1000 genomes]
rs9377216	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9377217	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9390676	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs9399686	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9404032	0.87[EUR][1000 genomes]
rs9404034	1.00[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs9404035	0.87[EUR][1000 genomes]
rs9404037	0.94[AMR][1000 genomes];0.94[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	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149709600-149750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:149721800-149743800	Weak transcription	Lung	lung
3	chr6:149721800-149744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:149721800-149745200	Weak transcription	Pancreas	Pancrea
5	chr6:149722000-149745000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:149725200-149744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:149728200-149744600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:149730200-149735600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:149730400-149735600	Strong transcription	Fetal Thymus	thymus
10	chr6:149730600-149744400	Weak transcription	NHDF-Ad	bronchial
11	chr6:149731400-149736600	Weak transcription	Fetal Stomach	stomach
12	chr6:149731400-149736800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:149731400-149738800	Weak transcription	A549	lung
14	chr6:149731400-149743800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:149731600-149736400	Weak transcription	Colonic Mucosa	Colon
16	chr6:149731600-149738800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:149731600-149744200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:149731600-149744400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:149731600-149744600	Weak transcription	NHLF	lung
20	chr6:149731600-149745200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:149731600-149745200	Weak transcription	Left Ventricle	heart
22	chr6:149731600-149745200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:149731800-149744400	Weak transcription	Brain Substantia Nigra	brain
24	chr6:149731800-149744400	Weak transcription	HSMMtube	muscle
25	chr6:149731800-149745200	Weak transcription	Fetal Brain Female	brain
26	chr6:149732000-149738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:149732000-149744400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:149732000-149744600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:149732200-149735600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:149732200-149736200	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:149732200-149736600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:149732200-149737200	Weak transcription	Thymus	Thymus
33	chr6:149732200-149738400	Weak transcription	Brain Angular Gyrus	brain
34	chr6:149732200-149744400	Weak transcription	Ovary	ovary
35	chr6:149732200-149744400	Weak transcription	Osteobl	bone
36	chr6:149732200-149745000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:149732400-149737200	Weak transcription	Primary B cells from cord blood	blood
38	chr6:149732400-149740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:149732400-149744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:149732400-149744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:149732400-149744400	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:149732400-149745200	Weak transcription	Brain Germinal Matrix	brain
43	chr6:149732600-149736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:149732600-149736600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:149732600-149743800	Weak transcription	Placenta	Placenta
46	chr6:149732600-149744600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:149732600-149744600	Weak transcription	Fetal Lung	lung
48	chr6:149732600-149744800	Weak transcription	NH-A	brain
49	chr6:149732600-149745400	Weak transcription	Dnd41	blood
50	chr6:149732800-149737200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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