Variant report

Variant	rs7571788
Chromosome Location	chr2:174049466-174049467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12465665	1.00[EUR][1000 genomes]
rs16861266	0.94[EUR][1000 genomes]
rs16861269	0.94[EUR][1000 genomes]
rs16861279	0.94[EUR][1000 genomes]
rs16861295	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861304	0.97[ASN][1000 genomes]
rs16861323	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053964	0.94[EUR][1000 genomes]
rs2119124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289395	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739103	0.81[AMR][1000 genomes]
rs3754738	0.81[AMR][1000 genomes]
rs3769155	0.99[ASN][1000 genomes]
rs3769164	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769166	0.99[ASN][1000 genomes]
rs3769175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769176	0.94[ASN][1000 genomes]
rs3769179	0.96[ASN][1000 genomes]
rs3769183	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769190	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3769206	0.94[EUR][1000 genomes]
rs3769208	0.94[EUR][1000 genomes]
rs3820832	0.81[AMR][1000 genomes]
rs4632313	0.94[EUR][1000 genomes]
rs56676752	0.89[EUR][1000 genomes]
rs58407376	1.00[ASN][1000 genomes]
rs59935415	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61032750	0.94[EUR][1000 genomes]
rs61183795	0.96[ASN][1000 genomes]
rs6717067	0.99[ASN][1000 genomes]
rs6753354	1.00[ASN][1000 genomes]
rs73971702	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566222	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
5	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
6	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:174045400-174052800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:174046200-174054200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:174046200-174054400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:174046600-174055800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:174046800-174052800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:174047200-174052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:174047600-174049800	Enhancers	Colon Smooth Muscle	Colon
17	chr2:174047600-174050200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:174047600-174050600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:174047600-174056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
22	chr2:174047800-174050400	Enhancers	NHLF	lung
23	chr2:174047800-174050600	Enhancers	NHDF-Ad	bronchial
24	chr2:174047800-174050800	Enhancers	Osteobl	bone
25	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:174048400-174049600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:174048400-174049600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:174048400-174049600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:174048400-174049600	Flanking Active TSS	A549	lung
30	chr2:174048400-174049800	Enhancers	NH-A	brain
31	chr2:174048400-174050000	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:174048400-174051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:174048600-174049600	Enhancers	HSMMtube	muscle
34	chr2:174048600-174050600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:174048600-174050600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:174048600-174050800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
38	chr2:174048800-174049600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:174048800-174049600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:174048800-174049600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:174048800-174049600	Enhancers	HMEC	breast
42	chr2:174048800-174049600	Enhancers	HSMM	muscle
43	chr2:174048800-174049600	Enhancers	NHEK	skin
44	chr2:174048800-174050000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:174048800-174050600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:174049000-174049600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:174049000-174049600	Enhancers	Hela-S3	cervix
48	chr2:174049000-174050000	Enhancers	Left Ventricle	heart
49	chr2:174049000-174050600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links