Variant report

Variant	rs2167881
Chromosome Location	chr2:149015655-149015656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10168750	0.81[AMR][1000 genomes]
rs10168759	0.81[AMR][1000 genomes]
rs10177233	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10188956	0.81[AMR][1000 genomes]
rs10208949	0.81[AMR][1000 genomes]
rs10928387	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10928392	0.81[AMR][1000 genomes]
rs11692197	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12472437	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12691783	0.81[AMR][1000 genomes]
rs1377455	0.81[AMR][1000 genomes]
rs1470862	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1542323	0.81[AMR][1000 genomes]
rs1869342	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1992989	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2034672	0.81[AMR][1000 genomes]
rs2123617	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2167882	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2219066	0.81[AMR][1000 genomes]
rs2382212	0.89[AFR][1000 genomes]
rs2656318	0.81[AMR][1000 genomes]
rs2890919	0.82[AFR][1000 genomes]
rs4972339	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4972340	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4972344	0.81[AMR][1000 genomes]
rs4972350	0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs4972351	0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs4972352	0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs4972353	0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs55721902	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6430307	0.81[AMR][1000 genomes]
rs6709521	0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs6722460	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6725093	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs6726373	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7424220	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7569947	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7572485	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7573171	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7578733	0.84[AFR][1000 genomes]
rs7602337	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148994800-149016600	Weak transcription	Fetal Brain Male	brain
2	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
3	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
4	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:148999400-149016400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:149002800-149016600	Weak transcription	NHLF	lung
7	chr2:149009200-149016600	ZNF genes & repeats	GM12878-XiMat	blood
8	chr2:149009400-149017600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:149009600-149017600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr2:149011000-149017000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:149011400-149016400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:149011600-149017000	Strong transcription	Fetal Intestine Large	intestine
13	chr2:149011600-149017200	ZNF genes & repeats	Fetal Thymus	thymus
14	chr2:149011600-149017600	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr2:149011600-149030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:149011800-149016400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:149011800-149016600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:149011800-149016800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:149011800-149021200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:149012000-149017000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:149012000-149017000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:149012000-149019000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:149012200-149015800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:149012200-149016600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:149012200-149017000	Strong transcription	Primary T cells from cord blood	blood
26	chr2:149012400-149017200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:149012600-149016600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:149012600-149043400	Weak transcription	Gastric	stomach
29	chr2:149012800-149016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:149012800-149017000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:149012800-149030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
33	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:149013000-149015800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:149013000-149017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:149013000-149017600	Weak transcription	Right Ventricle	heart
38	chr2:149013400-149016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:149013400-149016800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:149013600-149016600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:149013600-149016600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:149013800-149016000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:149013800-149016400	Weak transcription	Lung	lung
44	chr2:149014000-149016400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:149014000-149016400	Weak transcription	Pancreas	Pancrea
46	chr2:149014000-149016800	Weak transcription	Spleen	Spleen
47	chr2:149014000-149016800	Weak transcription	HMEC	breast
48	chr2:149014000-149025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:149014400-149016800	Strong transcription	Ovary	ovary

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