Variant report

Variant	rs6774693
Chromosome Location	chr3:119729656-119729657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1154596	1.00[ASN][1000 genomes]
rs1154597	1.00[ASN][1000 genomes]
rs11921053	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312998	1.00[ASN][1000 genomes]
rs13314595	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1579031	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1626696	0.85[ASN][1000 genomes]
rs16830683	0.94[ASN][1000 genomes]
rs16830689	0.98[EUR][1000 genomes]
rs1719888	0.85[ASN][1000 genomes]
rs1719889	0.81[AMR][1000 genomes]
rs1719895	0.91[ASN][1000 genomes]
rs1732165	0.91[ASN][1000 genomes]
rs1732169	0.91[ASN][1000 genomes]
rs182839	0.94[ASN][1000 genomes]
rs2037547	0.91[AMR][1000 genomes]
rs2461827	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28516957	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108749	0.91[ASN][1000 genomes]
rs334534	0.94[ASN][1000 genomes]
rs334535	0.98[EUR][1000 genomes]
rs334536	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334551	0.85[ASN][1000 genomes]
rs334552	0.94[ASN][1000 genomes]
rs334554	0.94[ASN][1000 genomes]
rs334559	0.98[EUR][1000 genomes]
rs334560	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334561	0.91[ASN][1000 genomes]
rs334566	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853592	1.00[ASN][1000 genomes]
rs4072520	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4438691	0.91[ASN][1000 genomes]
rs4450859	0.81[AMR][1000 genomes]
rs4605584	0.85[ASN][1000 genomes]
rs4688043	0.91[ASN][1000 genomes]
rs56126162	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58043853	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60272712	1.00[ASN][1000 genomes]
rs6438554	1.00[ASN][1000 genomes]
rs6438555	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66650215	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6762640	1.00[ASN][1000 genomes]
rs6769435	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6770314	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6771023	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775397	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6779828	0.98[EUR][1000 genomes]
rs6784239	1.00[ASN][1000 genomes]
rs6785050	1.00[ASN][1000 genomes]
rs6790751	0.81[AMR][1000 genomes]
rs6795874	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6797689	0.94[ASN][1000 genomes]
rs6802301	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805931	0.94[ASN][1000 genomes]
rs6807868	1.00[ASN][1000 genomes]
rs7613197	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7617372	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7620750	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7624540	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7628426	0.94[ASN][1000 genomes]
rs7635604	1.00[ASN][1000 genomes]
rs7636600	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649661	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7650554	0.94[ASN][1000 genomes]
rs7652172	0.98[EUR][1000 genomes]
rs9289138	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs968824	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851174	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9859778	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9879992	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][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	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	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
3	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119693600-119732200	Weak transcription	A549	lung
2	chr3:119710200-119730800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:119712000-119732200	Weak transcription	HepG2	liver
4	chr3:119712200-119732400	Weak transcription	NHLF	lung
5	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
6	chr3:119712800-119732200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
8	chr3:119717400-119730200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:119717600-119732200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:119718200-119736800	Weak transcription	Liver	Liver
11	chr3:119719000-119729800	Weak transcription	Brain Substantia Nigra	brain
12	chr3:119719600-119730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:119720200-119731800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:119720200-119736600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:119720200-119741000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:119720400-119730400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:119720400-119737200	Weak transcription	NHDF-Ad	bronchial
18	chr3:119720800-119730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:119720800-119738600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:119721000-119731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:119721000-119731200	Weak transcription	Fetal Lung	lung
22	chr3:119721400-119733600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:119723000-119730000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:119723200-119730000	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:119723200-119734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:119723200-119736200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:119723400-119730400	Weak transcription	Small Intestine	intestine
28	chr3:119723400-119731800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:119723600-119729800	Weak transcription	Left Ventricle	heart
30	chr3:119723600-119731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:119723600-119731800	Weak transcription	Right Ventricle	heart
32	chr3:119723600-119740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:119724000-119730000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:119724000-119731200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:119724000-119736800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:119724000-119738200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:119724000-119741400	Weak transcription	Thymus	Thymus
38	chr3:119724200-119734600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:119724400-119731400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:119729200-119730400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:119729200-119730400	Weak transcription	Stomach Mucosa	stomach
42	chr3:119729200-119732600	Enhancers	Colon Smooth Muscle	Colon
43	chr3:119729400-119731200	Weak transcription	Fetal Heart	heart
44	chr3:119729600-119729800	Weak transcription	Psoas Muscle	Psoas
45	chr3:119729600-119730000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr3:119729600-119730000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:119729600-119730000	Enhancers	Lung	lung
48	chr3:119729600-119731000	Enhancers	Primary neutrophils fromperipheralblood	blood

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