Variant report

Variant	rs7612683
Chromosome Location	chr3:145920680-145920681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10737947	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs10804709	0.80[ASN][1000 genomes]
rs10804710	0.93[ASN][1000 genomes]
rs10935611	0.89[CHB][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935613	0.93[ASN][1000 genomes]
rs10935614	0.93[ASN][1000 genomes]
rs10935615	0.93[ASN][1000 genomes]
rs10935616	0.93[ASN][1000 genomes]
rs11709096	0.93[ASN][1000 genomes]
rs11716310	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915448	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11919011	0.93[ASN][1000 genomes]
rs12487353	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12633074	0.93[ASN][1000 genomes]
rs1398125	0.82[ASN][1000 genomes]
rs1398529	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1512078	0.93[ASN][1000 genomes]
rs1512079	0.93[ASN][1000 genomes]
rs1512080	0.84[ASN][1000 genomes]
rs1512081	0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1512888	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512890	0.94[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1512893	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1606434	0.84[ASN][1000 genomes]
rs1877511	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1913184	0.91[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036980	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175544	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs2175545	0.93[ASN][1000 genomes]
rs2867081	0.93[ASN][1000 genomes]
rs2867082	0.84[ASN][1000 genomes]
rs2867083	0.93[ASN][1000 genomes]
rs2867084	0.92[ASN][1000 genomes]
rs2903478	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903479	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3762686	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762688	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792338	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804648	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804654	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3914252	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273339	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs4475004	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs4488802	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs4681306	0.93[ASN][1000 genomes]
rs4681307	0.93[ASN][1000 genomes]
rs4681308	0.93[ASN][1000 genomes]
rs6440421	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440422	0.93[ASN][1000 genomes]
rs6770057	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs6770163	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770278	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6775520	0.82[ASN][1000 genomes]
rs6792732	0.93[ASN][1000 genomes]
rs6800307	0.82[ASN][1000 genomes]
rs6805377	0.93[ASN][1000 genomes]
rs7430290	0.93[ASN][1000 genomes]
rs7621841	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs7632412	0.93[ASN][1000 genomes]
rs7633252	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7634568	0.93[ASN][1000 genomes]
rs7643778	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs9756128	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809892	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813122	0.93[ASN][1000 genomes]
rs9822280	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825776	0.93[ASN][1000 genomes]
rs9826132	0.93[ASN][1000 genomes]
rs9826360	0.93[ASN][1000 genomes]
rs9826591	0.84[ASN][1000 genomes]
rs9830892	0.84[ASN][1000 genomes]
rs9836419	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs9838801	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9838866	0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs9839724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839874	0.90[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845890	0.93[ASN][1000 genomes]
rs9850566	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851511	0.93[ASN][1000 genomes]
rs9855695	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs9858823	0.84[ASN][1000 genomes]
rs9859273	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs9863647	0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs9867851	0.93[ASN][1000 genomes]
rs9873891	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9875799	0.93[ASN][1000 genomes]
rs9877004	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877615	chr3:145910430-145988231	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145897000-145933600	Weak transcription	Fetal Stomach	stomach
2	chr3:145901000-145923800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:145902800-145923000	Weak transcription	Osteobl	bone
4	chr3:145902800-145923600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:145903000-145934800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:145905000-145933600	Weak transcription	NHLF	lung
7	chr3:145907000-145938600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:145907600-145939200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:145908200-145936400	Weak transcription	A549	lung
10	chr3:145909600-145939200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:145910400-145932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:145910400-145940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:145912200-145923800	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:145912600-145923600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:145913200-145923200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:145913800-145939200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:145914000-145923400	Weak transcription	Fetal Intestine Large	intestine
18	chr3:145914200-145937000	Weak transcription	Placenta	Placenta
19	chr3:145914600-145940200	Weak transcription	Gastric	stomach
20	chr3:145914800-145924200	Weak transcription	Aorta	Aorta
21	chr3:145914800-145940200	Weak transcription	Psoas Muscle	Psoas
22	chr3:145914800-145940400	Weak transcription	Spleen	Spleen
23	chr3:145917000-145921400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:145917400-145925200	Strong transcription	Adipose Nuclei	Adipose
25	chr3:145917800-145920800	Weak transcription	Ovary	ovary
26	chr3:145917800-145923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:145917800-145923800	Weak transcription	HSMMtube	muscle
28	chr3:145917800-145940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:145918000-145940400	Weak transcription	Pancreas	Pancrea
30	chr3:145918200-145924200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:145918200-145924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:145918400-145940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:145918600-145921400	Weak transcription	NHDF-Ad	bronchial
34	chr3:145918600-145923200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:145918600-145923600	Weak transcription	HepG2	liver
36	chr3:145918800-145924200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:145918800-145925200	Weak transcription	Fetal Kidney	kidney
38	chr3:145919000-145934800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:145919600-145921000	Weak transcription	Left Ventricle	heart
40	chr3:145919800-145920800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:145920200-145921000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:145920200-145921400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:145920400-145921400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:145920400-145922800	Strong transcription	HUVEC	blood vessel
45	chr3:145920400-145925800	Strong transcription	Liver	Liver
46	chr3:145920600-145920800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:145920600-145921400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:145920600-145921400	Strong transcription	Fetal Lung	lung
49	chr3:145920600-145922200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:145920600-145940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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