Variant report

Variant	rs13250890
Chromosome Location	chr8:125495708-125495709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125495517..125498370-chr8:125499214..125502183,3	MCF-7	breast:
2	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
3	chr8:125494945..125497543-chr8:125548660..125551608,2	K562	blood:

Variant related genes	Relation type
ENSG00000253106	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1131024	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13254054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263130	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13264071	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269215	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13276295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17298010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34008273	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34115246	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681068	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34684627	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34714561	0.82[EUR][1000 genomes]
rs35005670	0.81[EUR][1000 genomes]
rs35135081	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35309726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35419095	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4358788	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4457314	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4535724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4540394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010902	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7813473	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3329643	chr8:125494521-125496369	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125498200	Weak transcription	Esophagus	oesophagus
3	chr8:125488200-125515800	Weak transcription	Lung	lung
4	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125489000-125496200	Weak transcription	Colonic Mucosa	Colon
6	chr8:125489000-125497200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:125489000-125498200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:125489000-125498200	Weak transcription	Placenta	Placenta
9	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:125489000-125541200	Weak transcription	Gastric	stomach
15	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
16	chr8:125489200-125495800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:125489200-125496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:125489200-125496200	Weak transcription	Fetal Stomach	stomach
19	chr8:125489200-125496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:125489200-125496400	Weak transcription	NH-A	brain
21	chr8:125489200-125497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:125489200-125498000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:125489200-125498000	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:125489200-125498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:125489200-125498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:125489200-125498200	Weak transcription	Aorta	Aorta
27	chr8:125489200-125498200	Weak transcription	Right Ventricle	heart
28	chr8:125489200-125498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:125489200-125498200	Weak transcription	Thymus	Thymus
30	chr8:125489200-125498400	Weak transcription	Fetal Brain Male	brain
31	chr8:125489200-125498600	Weak transcription	A549	lung
32	chr8:125489200-125498600	Weak transcription	HSMMtube	muscle
33	chr8:125489400-125497800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:125489400-125498000	Weak transcription	Fetal Kidney	kidney
35	chr8:125489400-125498000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:125489400-125498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:125489400-125498200	Weak transcription	HSMM	muscle
38	chr8:125489400-125498400	Weak transcription	NHEK	skin
39	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
40	chr8:125489600-125497800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:125489600-125498000	Weak transcription	Fetal Intestine Large	intestine
42	chr8:125489600-125498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:125489600-125498200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:125489600-125498200	Weak transcription	HMEC	breast
45	chr8:125489600-125498600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:125489800-125496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:125489800-125498000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:125490000-125496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:125490000-125496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:125490000-125497200	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links