Variant report

Variant	rs6807868
Chromosome Location	chr3:119658705-119658706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1154596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154597	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921053	1.00[ASN][1000 genomes]
rs13312998	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13314595	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1626696	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16830683	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16830689	1.00[CHB][hapmap]
rs1719887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1719888	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719889	1.00[CHB][hapmap]
rs1719895	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1732165	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1732169	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs182839	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2037547	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2461816	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs2461827	0.91[ASN][1000 genomes]
rs2472680	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs3108749	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334535	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs334536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs334538	0.84[CHD][hapmap]
rs334539	0.87[CEU][hapmap]
rs334545	0.81[ASW][hapmap];0.87[CEU][hapmap]
rs334549	0.87[CEU][hapmap]
rs334551	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334552	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334554	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334559	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs334560	0.94[ASN][1000 genomes]
rs334561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3853592	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072520	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4438691	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4605584	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56126162	0.84[ASN][1000 genomes]
rs58043853	0.81[ASN][1000 genomes]
rs60272712	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438550	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs6438554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438555	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6438558	0.87[CEU][hapmap]
rs66650215	0.97[ASN][1000 genomes]
rs6762640	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769435	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs6770314	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs6771023	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6774693	1.00[ASN][1000 genomes]
rs6779828	1.00[CHB][hapmap]
rs6781470	0.87[CEU][hapmap]
rs6784239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6785050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790751	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6795874	0.84[ASN][1000 genomes]
rs6797689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6797879	0.84[AFR][1000 genomes]
rs6805931	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7613197	0.84[ASN][1000 genomes]
rs7617372	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7620750	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7624540	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7628426	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7635604	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636600	1.00[ASN][1000 genomes]
rs7644268	0.87[CEU][hapmap]
rs7650554	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7652172	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs923380	0.87[CEU][hapmap]
rs9289138	0.84[ASN][1000 genomes]
rs968824	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9784393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9829763	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9851174	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9859778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9879992	1.00[CHB][hapmap];0.84[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
6	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
7	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
8	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
9	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
10	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
11	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
15	chr3:119635400-119664600	Weak transcription	HMEC	breast
16	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:119640600-119664400	Weak transcription	HSMM	muscle
19	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:119640600-119672400	Weak transcription	Osteobl	bone
21	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
22	chr3:119641000-119661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:119641000-119662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:119641000-119663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
27	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
28	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:119641200-119666400	Weak transcription	HepG2	liver
30	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
33	chr3:119650200-119660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:119650200-119660800	Weak transcription	A549	lung
35	chr3:119650200-119669800	Weak transcription	Liver	Liver
36	chr3:119650400-119669600	Weak transcription	Left Ventricle	heart
37	chr3:119653400-119661600	Weak transcription	NHDF-Ad	bronchial
38	chr3:119653600-119669600	Weak transcription	Ovary	ovary
39	chr3:119656200-119658800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr3:119656200-119663400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:119656400-119662200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:119656400-119662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:119656400-119663200	Weak transcription	Primary B cells from cord blood	blood
44	chr3:119656400-119663200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:119656400-119669400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:119656400-119680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:119656400-119681200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:119656600-119660800	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:119656600-119661800	Weak transcription	Rectal Smooth Muscle	rectum

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