Variant report

Variant	rs7310702
Chromosome Location	chr12:46248800-46248801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46166755..46169642-chr12:46247859..46249712,2	K562	blood:

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

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

rs_ID	r²[population]
rs10161510	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs10161536	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506264	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.82[YRI][hapmap]
rs11183248	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574971	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298184	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302862	0.89[YRI][hapmap]
rs12307979	0.95[GIH][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314576	0.89[AMR][1000 genomes]
rs12316361	0.89[YRI][hapmap]
rs1549591	1.00[EUR][1000 genomes]
rs15852	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096316	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61009645	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582580	0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303119	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7304785	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	0.86[ASW][hapmap];0.89[GIH][hapmap];0.89[YRI][hapmap]
rs7309921	0.89[YRI][hapmap]
rs74081279	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081280	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081611	1.00[EUR][1000 genomes]
rs7964495	0.83[YRI][hapmap]
rs7965539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970212	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970367	1.00[EUR][1000 genomes]
rs7971936	0.89[GIH][hapmap];0.82[LWK][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972499	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972650	0.81[YRI][hapmap]
rs7973967	0.83[YRI][hapmap]
rs7975170	0.86[ASW][hapmap];0.89[GIH][hapmap];0.89[YRI][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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46224000-46249400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:46228800-46249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:46229800-46248800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:46229800-46267800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:46230000-46249200	Strong transcription	Dnd41	blood
6	chr12:46230000-46249400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:46230000-46249600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:46230000-46249800	Strong transcription	Fetal Thymus	thymus
9	chr12:46230200-46248800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:46230600-46249200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:46238400-46249000	Strong transcription	HSMM	muscle
12	chr12:46240400-46248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:46240600-46248800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:46241800-46248800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:46242000-46249600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:46242200-46272000	Weak transcription	Stomach Mucosa	stomach
17	chr12:46243200-46248800	Strong transcription	Primary B cells from cord blood	blood
18	chr12:46243200-46249800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:46243400-46250600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:46243800-46249000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:46245400-46272800	Weak transcription	NHDF-Ad	bronchial
22	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
23	chr12:46245600-46256200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:46245600-46267600	Weak transcription	Aorta	Aorta
25	chr12:46245800-46255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:46245800-46271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:46245800-46271600	Weak transcription	HUVEC	blood vessel
28	chr12:46245800-46272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:46246000-46256400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:46246000-46272600	Weak transcription	Fetal Heart	heart
31	chr12:46246000-46285400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:46246200-46256200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:46246200-46256200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:46246200-46256600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:46246400-46255000	Weak transcription	K562	blood
36	chr12:46246400-46267600	Weak transcription	Brain Anterior Caudate	brain
37	chr12:46246400-46267600	Weak transcription	Fetal Brain Male	brain
38	chr12:46246400-46268600	Weak transcription	Colonic Mucosa	Colon
39	chr12:46246400-46268600	Weak transcription	Esophagus	oesophagus
40	chr12:46246600-46249400	Weak transcription	Psoas Muscle	Psoas
41	chr12:46246600-46256200	Weak transcription	Brain Germinal Matrix	brain
42	chr12:46246600-46265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:46246600-46266000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:46246600-46266400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:46246600-46266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:46246600-46268600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:46246600-46268600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:46246600-46268600	Weak transcription	Right Ventricle	heart
49	chr12:46246600-46274800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:46246600-46285400	Weak transcription	NH-A	brain

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