Variant report

Variant	rs7314598
Chromosome Location	chr12:50522891-50522892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50521333..50523123-chr12:50530434..50532715,2	K562	blood:
2	chr12:50521063..50523266-chr12:50526942..50528564,2	MCF-7	breast:
3	chr12:50503233..50504882-chr12:50521389..50523983,2	K562	blood:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10735822	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735823	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747571	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783334	0.81[EUR][1000 genomes]
rs10783336	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783337	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs10783339	0.86[EUR][1000 genomes]
rs10783341	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs10875999	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876001	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876002	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876004	0.81[EUR][1000 genomes]
rs10876006	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876007	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169275	0.81[EUR][1000 genomes]
rs11169283	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169284	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169285	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229758	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314572	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17124448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862044	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2008537	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242507	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55639096	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151073	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131794	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297864	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7300549	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7306213	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316344	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7486874	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7953174	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:50507000-50523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
5	chr12:50507200-50523600	Weak transcription	Right Atrium	heart
6	chr12:50507200-50532000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:50510800-50523800	Weak transcription	Psoas Muscle	Psoas
8	chr12:50510800-50528400	Strong transcription	Liver	Liver
9	chr12:50511200-50538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:50511400-50538600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:50512600-50529200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:50512600-50538200	Strong transcription	Primary B cells from cord blood	blood
13	chr12:50514800-50523600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:50515600-50523800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:50515800-50523600	Weak transcription	HepG2	liver
16	chr12:50515800-50523800	Weak transcription	Fetal Brain Male	brain
17	chr12:50516000-50532400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:50516600-50536200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:50517600-50523000	Weak transcription	Fetal Brain Female	brain
20	chr12:50517600-50548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:50518000-50523600	Weak transcription	Esophagus	oesophagus
22	chr12:50518000-50532400	Strong transcription	HSMM	muscle
23	chr12:50519200-50524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:50519200-50538200	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:50519400-50523600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr12:50519400-50525200	Strong transcription	Colon Smooth Muscle	Colon
27	chr12:50519400-50538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:50519600-50525000	Strong transcription	Adipose Nuclei	Adipose
29	chr12:50519600-50532600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:50519600-50537800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:50519600-50538200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:50519800-50523400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:50519800-50523600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:50520000-50523800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:50520200-50529400	Strong transcription	Fetal Intestine Small	intestine
36	chr12:50520200-50537800	Strong transcription	Primary T cells from cord blood	blood
37	chr12:50520200-50539000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:50520400-50523400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:50520400-50526400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:50520400-50528400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50520400-50529800	Strong transcription	Lung	lung
42	chr12:50520400-50530600	Strong transcription	Fetal Stomach	stomach
43	chr12:50520400-50538000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:50520600-50525000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:50520600-50525800	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:50520600-50525800	Strong transcription	Colonic Mucosa	Colon
47	chr12:50520600-50525800	Strong transcription	HMEC	breast
48	chr12:50520600-50526400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:50520600-50526600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:50520600-50526600	Strong transcription	Osteobl	bone

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