Variant report

Variant	rs13032996
Chromosome Location	chr2:149016812-149016813
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10206569	0.84[ASN][1000 genomes]
rs10210377	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10432369	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10928388	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10928389	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10928390	0.84[ASN][1000 genomes]
rs1120671	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11675979	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11676308	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11678688	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs11683219	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11685302	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11692246	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053104	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12470061	0.86[AMR][1000 genomes]
rs12691780	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12691781	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13001946	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13022005	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027785	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13392141	0.84[ASN][1000 genomes]
rs13425594	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1449960	0.87[EUR][1000 genomes]
rs1453318	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17274896	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869341	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2044760	0.87[EUR][1000 genomes]
rs2044761	0.86[EUR][1000 genomes]
rs2084954	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2167127	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839755	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2890917	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35042809	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35749985	0.86[ASN][1000 genomes]
rs4399670	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4972276	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4972277	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4972278	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4972338	0.86[EUR][1000 genomes]
rs4972341	0.84[ASN][1000 genomes]
rs4972343	0.82[ASN][1000 genomes]
rs4972347	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4972355	0.86[AMR][1000 genomes]
rs6430305	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6721794	0.86[EUR][1000 genomes]
rs6746932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570104	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7572948	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949679	0.88[AMR][1000 genomes]
rs961207	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs987625	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987626	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs991554	0.91[CHB][hapmap];0.84[ASN][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
2	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
3	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:149009400-149017600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:149009600-149017600	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:149011000-149017000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:149011600-149017000	Strong transcription	Fetal Intestine Large	intestine
8	chr2:149011600-149017200	ZNF genes & repeats	Fetal Thymus	thymus
9	chr2:149011600-149017600	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr2:149011600-149030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:149011800-149021200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:149012000-149017000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:149012000-149017000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:149012000-149019000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:149012200-149017000	Strong transcription	Primary T cells from cord blood	blood
16	chr2:149012400-149017200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:149012600-149043400	Weak transcription	Gastric	stomach
18	chr2:149012800-149017000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:149012800-149030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
21	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:149013000-149017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:149013000-149017600	Weak transcription	Right Ventricle	heart
25	chr2:149014000-149025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:149014400-149018000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:149015000-149017800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:149015200-149017000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:149015200-149017400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr2:149015200-149017400	ZNF genes & repeats	Thymus	Thymus
32	chr2:149015200-149017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr2:149015400-149017400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:149015400-149017400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:149015400-149018000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:149015400-149021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:149015400-149023000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:149015600-149017400	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr2:149015600-149017600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr2:149015600-149017600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:149015800-149017600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr2:149015800-149018200	Weak transcription	HSMMtube	muscle
43	chr2:149015800-149030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:149016000-149017000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr2:149016200-149017000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:149016400-149017000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:149016400-149017200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr2:149016400-149017200	ZNF genes & repeats	Lung	lung
49	chr2:149016400-149017400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:149016400-149017400	Strong transcription	Fetal Lung	lung

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