Variant report

Variant	rs2037344
Chromosome Location	chr8:121019737-121019738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11986039	0.98[ASN][1000 genomes]
rs11986628	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11993265	0.95[ASN][1000 genomes]
rs1401810	0.98[ASN][1000 genomes]
rs1401812	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1401813	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1543200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1543201	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs1850886	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1879150	0.99[ASN][1000 genomes]
rs2037342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102905	0.81[CEU][hapmap]
rs2139435	0.88[EUR][1000 genomes]
rs2139436	0.88[EUR][1000 genomes]
rs2139438	0.98[ASN][1000 genomes]
rs2139439	0.97[ASN][1000 genomes]
rs2176748	0.97[ASN][1000 genomes]
rs2176749	0.97[ASN][1000 genomes]
rs2176751	0.85[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271900	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326428	0.99[ASN][1000 genomes]
rs2326430	0.97[ASN][1000 genomes]
rs2326433	0.95[ASN][1000 genomes]
rs2326434	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2875927	0.97[ASN][1000 genomes]
rs2875932	0.86[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28885745	0.99[ASN][1000 genomes]
rs4053282	0.91[CEU][hapmap];0.80[CHB][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4086915	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4348544	0.95[ASN][1000 genomes]
rs4398969	0.89[EUR][1000 genomes]
rs4520205	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4621850	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871031	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs4871032	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.96[ASN][1000 genomes]
rs4871819	0.85[CHB][hapmap]
rs4871823	0.83[EUR][1000 genomes]
rs4871824	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs6469882	0.84[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469888	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs6469891	0.96[ASN][1000 genomes]
rs6469893	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6985424	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7000361	0.80[LWK][hapmap]
rs7012522	0.96[ASN][1000 genomes]
rs7386139	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs7387672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7464941	0.95[ASN][1000 genomes]
rs7813264	0.98[ASN][1000 genomes]
rs7816108	0.82[LWK][hapmap]
rs7817075	0.98[ASN][1000 genomes]
rs7817379	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820945	0.80[LWK][hapmap]
rs7821583	0.98[ASN][1000 genomes]
rs7821842	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.98[ASN][1000 genomes]
rs7822000	0.98[ASN][1000 genomes]
rs7822384	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7824637	0.91[ASN][1000 genomes]
rs7829279	0.99[ASN][1000 genomes]
rs7832657	0.98[ASN][1000 genomes]
rs7836786	0.85[CHB][hapmap]
rs7840668	0.90[ASN][1000 genomes]
rs7845541	0.95[ASN][1000 genomes]
rs7846263	0.96[ASN][1000 genomes]
rs867709	0.95[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9297609	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv528628	chr8:121019737-121023967	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2037344	DVL3	trans	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
4	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
6	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
7	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
9	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
10	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
11	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
12	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:121015000-121020200	Strong transcription	Liver	Liver
14	chr8:121015200-121020000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
17	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
18	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:121015800-121019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:121015800-121021000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:121016000-121021200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:121016000-121023200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
25	chr8:121016200-121021000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:121016800-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:121017000-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121017000-121020000	Strong transcription	Gastric	stomach
29	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
30	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121017400-121019800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:121017400-121019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:121017400-121020200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:121017600-121019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121017600-121020000	Strong transcription	Ovary	ovary
36	chr8:121017600-121020000	Weak transcription	Osteobl	bone
37	chr8:121017600-121020200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:121017600-121021600	Strong transcription	Fetal Intestine Small	intestine
39	chr8:121017800-121020400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:121017800-121021000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:121017800-121022400	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
43	chr8:121018200-121019800	Weak transcription	Adipose Nuclei	Adipose
44	chr8:121018200-121021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:121018200-121021800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:121018200-121023200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
48	chr8:121018800-121023800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:121019000-121020000	Strong transcription	Esophagus	oesophagus
50	chr8:121019000-121020200	Strong transcription	Brain Substantia Nigra	brain

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