Variant report

Variant	rs1453318
Chromosome Location	chr2:149010800-149010801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707881..56710421-chr2:149007960..149010940,2	K562	blood:
2	chr17:56707748..56709669-chr2:149007960..149010940,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10206569	0.86[ASN][1000 genomes]
rs10210377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10432369	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10928388	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10928389	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928390	0.86[ASN][1000 genomes]
rs1120671	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11675979	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676308	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678688	0.84[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11683219	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11685302	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053104	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12470061	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12691780	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12691781	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13001946	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13022005	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13027785	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13032996	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13392141	0.86[ASN][1000 genomes]
rs13425594	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1449960	0.91[EUR][1000 genomes]
rs17274896	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17276501	0.81[EUR][1000 genomes]
rs1869341	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2044760	0.91[EUR][1000 genomes]
rs2044761	0.90[EUR][1000 genomes]
rs2084954	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602358	0.82[EUR][1000 genomes]
rs2656319	0.82[EUR][1000 genomes]
rs2656320	0.82[EUR][1000 genomes]
rs2656324	0.82[EUR][1000 genomes]
rs2839755	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2890917	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35042809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35749985	0.84[ASN][1000 genomes]
rs4399670	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972276	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4972277	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4972278	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972338	0.89[EUR][1000 genomes]
rs4972341	0.86[ASN][1000 genomes]
rs4972343	0.80[ASN][1000 genomes]
rs4972347	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4972355	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6430305	0.89[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6721794	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6746932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570104	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7572948	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949679	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs961207	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs987625	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs987626	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs991554	0.91[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.82[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148984400-149011800	Weak transcription	Gastric	stomach
2	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
4	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:148990200-149011400	Weak transcription	Spleen	Spleen
6	chr2:148994800-149016600	Weak transcription	Fetal Brain Male	brain
7	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
8	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
9	chr2:148995200-149011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:148995200-149011400	Weak transcription	Placenta	Placenta
11	chr2:148995400-149011200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:148995400-149011200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:148995400-149011400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:148995400-149013400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:148995400-149015200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:148995800-149010800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:148996400-149011400	Weak transcription	Adipose Nuclei	Adipose
18	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:148997000-149012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:148997400-149011000	Weak transcription	Fetal Kidney	kidney
21	chr2:148997800-149011400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:148998600-149011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:148999400-149016400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:149002600-149015600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:149002800-149012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:149002800-149012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:149002800-149016600	Weak transcription	NHLF	lung
28	chr2:149003000-149011200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:149003000-149011400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:149003200-149011200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:149003800-149011800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:149006000-149011200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:149007000-149011400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:149007400-149011000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:149008000-149013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:149008200-149011400	Weak transcription	Right Ventricle	heart
37	chr2:149009200-149016600	ZNF genes & repeats	GM12878-XiMat	blood
38	chr2:149009400-149012200	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr2:149009400-149017600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:149009600-149012000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr2:149009600-149017600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:149009800-149010800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:149009800-149010800	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr2:149010000-149010800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:149010000-149012400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr2:149010200-149011000	Weak transcription	Fetal Stomach	stomach
47	chr2:149010400-149011200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr2:149010400-149011200	Weak transcription	HepG2	liver
49	chr2:149010400-149012400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr2:149010400-149013600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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