Variant report

Variant	rs62237446
Chromosome Location	chr22:31637663-31637664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31636927..31638893-chr22:31647467..31649830,2	K562	blood:
2	chr22:31636192..31639779-chr22:31685057..31687431,3	MCF-7	breast:
3	chr22:31635703..31637770-chr22:31648777..31650982,3	MCF-7	breast:
4	chr22:31635408..31638175-chr22:31677816..31680372,2	MCF-7	breast:
5	chr22:31362595..31365185-chr22:31636679..31638465,2	MCF-7	breast:
6	chr22:31634682..31637817-chr22:31642306..31645689,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12160763	0.92[EUR][1000 genomes]
rs16989519	1.00[EUR][1000 genomes]
rs16989617	0.84[EUR][1000 genomes]
rs16989620	0.84[EUR][1000 genomes]
rs16989623	0.88[EUR][1000 genomes]
rs16989635	0.88[EUR][1000 genomes]
rs16989638	0.88[EUR][1000 genomes]
rs16989650	0.88[EUR][1000 genomes]
rs17833442	0.80[EUR][1000 genomes]
rs2180142	0.80[EUR][1000 genomes]
rs2232173	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55997441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136528	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56314242	0.92[EUR][1000 genomes]
rs56385611	0.88[EUR][1000 genomes]
rs62236168	1.00[EUR][1000 genomes]
rs62236170	1.00[EUR][1000 genomes]
rs62236171	0.80[EUR][1000 genomes]
rs62236187	0.85[EUR][1000 genomes]
rs62236215	0.88[EUR][1000 genomes]
rs62236218	0.84[EUR][1000 genomes]
rs62236223	0.85[EUR][1000 genomes]
rs62236224	0.85[EUR][1000 genomes]
rs62237366	0.87[ASN][1000 genomes]
rs62237437	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239378	0.80[EUR][1000 genomes]
rs62239379	0.93[EUR][1000 genomes]
rs73158601	0.92[EUR][1000 genomes]
rs73160611	0.85[EUR][1000 genomes]
rs73160614	0.85[EUR][1000 genomes]
rs878654	1.00[EUR][1000 genomes]
rs9680589	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
5	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
6	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
7	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
8	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:31627600-31639000	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:31627600-31639600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:31627600-31639800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:31627600-31640000	Weak transcription	Fetal Heart	heart
13	chr22:31627600-31640800	Weak transcription	Liver	Liver
14	chr22:31627800-31639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:31627800-31639600	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:31627800-31640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:31627800-31640800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:31627800-31640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr22:31627800-31643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:31627800-31643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:31627800-31643400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:31628000-31643800	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:31629800-31639200	Weak transcription	Psoas Muscle	Psoas
24	chr22:31629800-31639400	Weak transcription	Fetal Thymus	thymus
25	chr22:31629800-31639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:31631000-31639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:31631600-31637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31631600-31643800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:31632000-31643200	Weak transcription	Colonic Mucosa	Colon
30	chr22:31632400-31640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:31634400-31639800	Enhancers	Fetal Intestine Large	intestine
32	chr22:31634400-31640400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr22:31634400-31643800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr22:31634600-31637800	Genic enhancers	HUVEC	blood vessel
35	chr22:31634600-31640200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:31634800-31641200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr22:31634800-31643600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:31635000-31638000	Enhancers	Duodenum Mucosa	Duodenum
39	chr22:31635000-31641200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr22:31635200-31638400	Genic enhancers	HepG2	liver
41	chr22:31635400-31637800	Strong transcription	Thymus	Thymus
42	chr22:31635600-31639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:31635600-31639600	Enhancers	Osteobl	bone
44	chr22:31635600-31639800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:31635800-31638400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:31635800-31639200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:31635800-31639200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:31635800-31639400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:31635800-31639600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:31635800-31640400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links