Variant report

Variant	rs13250414
Chromosome Location	chr8:67958736-67958737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67951753..67953319-chr8:67958039..67959658,2	K562	blood:
2	chr8:67956271..67959247-chr8:67974283..67976279,3	K562	blood:
3	chr8:67957804..67959603-chr8:67964116..67966913,4	K562	blood:
4	chr8:67951753..67953892-chr8:67958158..67960620,2	K562	blood:
5	chr8:67956943..67960859-chr8:67972864..67975626,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13251410	1.00[CHD][hapmap]
rs13277391	1.00[CHD][hapmap]
rs28368501	1.00[CHD][hapmap]
rs4374972	1.00[CHD][hapmap]
rs7817823	1.00[CHD][hapmap]
rs7835141	1.00[CHD][hapmap]

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	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
2	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:67948400-67960000	Weak transcription	Gastric	stomach
4	chr8:67949800-67960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:67951200-67959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:67951800-67961400	Weak transcription	Right Ventricle	heart
7	chr8:67952000-67961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:67952200-67960000	Weak transcription	Pancreas	Pancrea
9	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
11	chr8:67952800-67962600	Weak transcription	Esophagus	oesophagus
12	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
17	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:67953600-67971600	Strong transcription	Liver	Liver
20	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:67953800-67966000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
31	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
32	chr8:67954000-67965400	Strong transcription	Primary T cells from cord blood	blood
33	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:67954200-67971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:67954200-67972400	Strong transcription	Fetal Lung	lung
38	chr8:67954400-67958800	Strong transcription	Brain Hippocampus Middle	brain
39	chr8:67954400-67959800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:67954400-67970600	Strong transcription	Brain Anterior Caudate	brain
41	chr8:67954400-67971400	Strong transcription	Dnd41	blood
42	chr8:67954400-67971600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:67954400-67971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:67954400-67972200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:67954400-67972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:67954600-67958800	Strong transcription	A549	lung
47	chr8:67954600-67960000	Weak transcription	Psoas Muscle	Psoas
48	chr8:67954600-67966000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:67954600-67971200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:67954600-67971400	Strong transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links