Variant report

Variant	rs13419229
Chromosome Location	chr2:37175963-37175964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37175009..37177120-chr2:37186654..37188867,2	K562	blood:
2	chr2:37172866..37175406-chr2:37175824..37179648,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10084315	1.00[ASN][1000 genomes]
rs1014584	1.00[ASN][1000 genomes]
rs10166375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177905	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10179017	1.00[ASN][1000 genomes]
rs10186611	1.00[ASN][1000 genomes]
rs10187519	1.00[EUR][1000 genomes]
rs10187755	1.00[EUR][1000 genomes]
rs10201668	1.00[EUR][1000 genomes]
rs10209055	1.00[ASN][1000 genomes]
rs10209892	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10210881	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11124545	1.00[ASN][1000 genomes]
rs11692052	1.00[ASN][1000 genomes]
rs12464180	1.00[ASN][1000 genomes]
rs12466249	1.00[ASN][1000 genomes]
rs12475211	1.00[ASN][1000 genomes]
rs12618630	1.00[ASN][1000 genomes]
rs13382481	1.00[ASN][1000 genomes]
rs13382546	1.00[ASN][1000 genomes]
rs13385893	1.00[EUR][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13397869	1.00[EUR][1000 genomes]
rs13398292	1.00[ASN][1000 genomes]
rs13398577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408934	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13411242	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13423835	1.00[ASN][1000 genomes]
rs13426552	1.00[ASN][1000 genomes]
rs13429524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430716	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372713	1.00[ASN][1000 genomes]
rs2464700	1.00[ASN][1000 genomes]
rs28386843	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593131	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28692629	1.00[ASN][1000 genomes]
rs28701005	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4670171	1.00[ASN][1000 genomes]
rs4670610	1.00[ASN][1000 genomes]
rs4670618	1.00[ASN][1000 genomes]
rs56808546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716696	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721362	1.00[ASN][1000 genomes]
rs72868355	0.86[EUR][1000 genomes]
rs7564242	1.00[EUR][1000 genomes]
rs7571203	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9309000	1.00[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv961397	chr2:37173966-37180387	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
3	chr2:37136400-37178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:37142000-37178400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:37142000-37178800	Weak transcription	Primary B cells from cord blood	blood
6	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:37143800-37191800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:37150200-37191800	Weak transcription	Fetal Thymus	thymus
9	chr2:37152400-37177800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:37152400-37191800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37154000-37178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:37154200-37177600	Weak transcription	Primary T cells from cord blood	blood
13	chr2:37154200-37179400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:37154600-37178800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:37154600-37179000	Weak transcription	Esophagus	oesophagus
16	chr2:37154600-37191800	Weak transcription	Fetal Intestine Large	intestine
17	chr2:37154800-37178200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:37154800-37178800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:37154800-37185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:37155000-37183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:37158000-37183600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:37158200-37178800	Weak transcription	Left Ventricle	heart
23	chr2:37158200-37192000	Weak transcription	Ovary	ovary
24	chr2:37158400-37177200	Weak transcription	Psoas Muscle	Psoas
25	chr2:37158400-37178400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:37158600-37191800	Weak transcription	Fetal Lung	lung
27	chr2:37159000-37178200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:37159000-37191800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:37159200-37177200	Weak transcription	HUVEC	blood vessel
30	chr2:37159200-37178200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:37159200-37178200	Weak transcription	NHEK	skin
32	chr2:37163600-37178400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:37164800-37178800	Weak transcription	Lung	lung
34	chr2:37165000-37190800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:37165200-37178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:37165600-37179000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:37165600-37191800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:37166600-37191600	Weak transcription	Dnd41	blood
39	chr2:37168600-37178200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:37168600-37191800	Weak transcription	Thymus	Thymus
41	chr2:37169600-37179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:37169800-37178400	Weak transcription	Right Ventricle	heart
43	chr2:37169800-37186800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:37170000-37178400	Weak transcription	K562	blood
45	chr2:37170400-37178400	Weak transcription	Gastric	stomach
46	chr2:37170600-37178400	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:37171400-37177600	Weak transcription	Hela-S3	cervix
48	chr2:37172400-37178400	Weak transcription	Fetal Heart	heart
49	chr2:37175200-37178000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:37175800-37176000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links