Variant report

Variant	rs2326434
Chromosome Location	chr8:121047798-121047799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087151	0.82[ASW][hapmap]
rs11774123	0.82[ASW][hapmap]
rs11986039	0.85[ASN][1000 genomes]
rs11986628	0.85[ASN][1000 genomes]
rs11993265	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1401810	0.85[ASN][1000 genomes]
rs1401812	0.88[ASN][1000 genomes]
rs1401813	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1519814	0.82[ASW][hapmap]
rs1543200	0.85[ASN][1000 genomes]
rs1543201	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs1850886	0.82[ASN][1000 genomes]
rs1879150	0.85[ASN][1000 genomes]
rs2037342	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2037343	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2037344	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2139438	0.85[ASN][1000 genomes]
rs2139439	0.87[ASN][1000 genomes]
rs2176748	0.87[ASN][1000 genomes]
rs2176749	0.85[ASN][1000 genomes]
rs2176751	0.85[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2271900	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2326428	0.85[ASN][1000 genomes]
rs2326430	0.87[ASN][1000 genomes]
rs2326433	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2875927	0.87[ASN][1000 genomes]
rs2875932	0.90[ASN][1000 genomes]
rs28885745	0.85[ASN][1000 genomes]
rs4053282	0.80[CHB][hapmap]
rs4086915	0.85[ASN][1000 genomes]
rs4271006	0.82[ASW][hapmap]
rs4348544	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4588897	0.82[ASW][hapmap]
rs4621850	0.84[ASN][1000 genomes]
rs4871031	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs4871032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871041	0.82[ASW][hapmap]
rs4871819	0.85[CHB][hapmap]
rs4871824	0.85[CHB][hapmap]
rs6469882	0.87[CEU][hapmap];0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs6469888	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs6469891	0.88[ASN][1000 genomes]
rs6469893	0.87[ASN][1000 genomes]
rs6985424	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997910	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7000609	0.82[ASW][hapmap]
rs7012522	0.88[ASN][1000 genomes]
rs7386139	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs7387672	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7464941	0.86[ASN][1000 genomes]
rs7813264	0.86[ASN][1000 genomes]
rs7817075	0.94[CEU][hapmap];0.86[ASN][1000 genomes]
rs7817379	0.88[ASN][1000 genomes]
rs7821583	0.94[CEU][hapmap];0.86[ASN][1000 genomes]
rs7821842	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs7822000	0.86[ASN][1000 genomes]
rs7822384	0.82[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824637	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7829279	0.85[ASN][1000 genomes]
rs7832657	0.86[ASN][1000 genomes]
rs7836786	0.85[CHB][hapmap]
rs7840668	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845541	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7846263	0.94[CEU][hapmap];0.88[ASN][1000 genomes]
rs867709	0.86[ASN][1000 genomes]
rs9297609	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
2	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
3	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
5	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
8	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
11	chr8:121042400-121048000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:121042400-121048000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:121042600-121048000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:121042600-121048000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:121044000-121048000	Genic enhancers	Fetal Stomach	stomach
16	chr8:121044800-121048200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121044800-121049000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:121044800-121049400	Enhancers	Osteobl	bone
19	chr8:121044800-121050000	Enhancers	Ovary	ovary
20	chr8:121045000-121048000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:121045000-121056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:121045200-121053400	Weak transcription	Liver	Liver
23	chr8:121045400-121049400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:121046000-121048400	Enhancers	Colon Smooth Muscle	Colon
25	chr8:121046000-121049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:121046200-121047800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:121046200-121048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121046200-121053000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:121046200-121053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
31	chr8:121046400-121047800	Weak transcription	Placenta	Placenta
32	chr8:121046400-121048000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:121046400-121048000	Weak transcription	Brain Substantia Nigra	brain
34	chr8:121046400-121048200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:121046400-121048200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121046400-121048200	Weak transcription	Esophagus	oesophagus
37	chr8:121046400-121056600	Weak transcription	Gastric	stomach
38	chr8:121046600-121047800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:121046600-121047800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:121046600-121048000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:121046600-121052800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:121047000-121050000	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:121047200-121048200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:121047200-121048800	Enhancers	Fetal Muscle Leg	muscle
45	chr8:121047200-121049000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:121047400-121047800	Weak transcription	Fetal Kidney	kidney
47	chr8:121047400-121048200	Enhancers	Fetal Muscle Trunk	muscle
48	chr8:121047600-121047800	Enhancers	NHDF-Ad	bronchial
49	chr8:121047600-121048000	Weak transcription	Fetal Intestine Small	intestine
50	chr8:121047600-121048600	Enhancers	Stomach Smooth Muscle	stomach

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