Variant report

Variant	rs6707001
Chromosome Location	chr2:180036364-180036365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10497535	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs11892241	0.86[AFR][1000 genomes]
rs11897308	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11900884	0.86[AFR][1000 genomes]
rs11901408	0.85[YRI][hapmap]
rs11901421	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11903685	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904657	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1490997	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16866635	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16866636	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16866665	0.85[AFR][1000 genomes]
rs16866667	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2044477	0.94[AFR][1000 genomes]
rs3731739	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs3816345	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6433758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433759	0.85[AFR][1000 genomes]
rs6433762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433765	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6710100	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723850	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725309	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs6728401	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566810	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7598995	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs7608106	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs930620	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
3	chr2:179980000-180038800	Weak transcription	HMEC	breast
4	chr2:179980000-180056800	Weak transcription	HSMM	muscle
5	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
6	chr2:179996200-180047600	Weak transcription	NH-A	brain
7	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
8	chr2:180003200-180039800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:180004800-180046000	Weak transcription	Spleen	Spleen
10	chr2:180005600-180040200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:180005600-180044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:180005600-180044400	Weak transcription	Esophagus	oesophagus
13	chr2:180005800-180043200	Weak transcription	Fetal Brain Male	brain
14	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
15	chr2:180006000-180044600	Weak transcription	Pancreas	Pancrea
16	chr2:180006600-180042000	Weak transcription	Brain Substantia Nigra	brain
17	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
18	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:180007400-180042200	Weak transcription	Brain Angular Gyrus	brain
20	chr2:180007400-180043000	Weak transcription	Aorta	Aorta
21	chr2:180008400-180042200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:180008600-180037600	Weak transcription	Fetal Thymus	thymus
23	chr2:180008600-180038400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:180008600-180048400	Weak transcription	Small Intestine	intestine
25	chr2:180011800-180039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:180013200-180044400	Weak transcription	Fetal Kidney	kidney
27	chr2:180015000-180041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:180015000-180043200	Weak transcription	Gastric	stomach
29	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:180015000-180060600	Weak transcription	Lung	lung
32	chr2:180015200-180039600	Weak transcription	Fetal Lung	lung
33	chr2:180015200-180046200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:180015200-180047200	Weak transcription	Placenta	Placenta
35	chr2:180015400-180039400	Weak transcription	Fetal Intestine Large	intestine
36	chr2:180015400-180039600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:180015400-180046000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
40	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:180015800-180043400	Weak transcription	Liver	Liver
42	chr2:180016000-180049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
44	chr2:180016200-180054000	Weak transcription	Osteobl	bone
45	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
46	chr2:180024200-180045800	Weak transcription	GM12878-XiMat	blood
47	chr2:180024400-180048600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:180025800-180038800	Strong transcription	HepG2	liver
49	chr2:180026400-180048800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:180029000-180039200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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