Variant report

Variant	rs7971308
Chromosome Location	chr12:51447506-51447507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51446371..51449109-chr12:51475954..51477544,3	K562	blood:
2	chr12:51446671..51449109-chr12:51475852..51477454,2	K562	blood:
3	chr12:51445541..51448064-chr12:51474329..51477358,3	MCF-7	breast:
4	chr12:51441811..51444855-chr12:51447426..51450145,3	K562	blood:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10783409	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10783413	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876127	0.91[ASN][1000 genomes]
rs10876129	0.91[ASN][1000 genomes]
rs10876130	0.85[CHB][hapmap]
rs10876131	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10876132	0.84[ASN][1000 genomes]
rs10876136	1.00[CHB][hapmap]
rs10876138	1.00[CHB][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs11169657	0.84[ASN][1000 genomes]
rs11169695	0.85[ASN][1000 genomes]
rs11169710	1.00[CHB][hapmap]
rs12379	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424509	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12427345	0.91[ASN][1000 genomes]
rs1466579	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1486014	0.91[ASN][1000 genomes]
rs15756	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1632791	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17125111	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2010630	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2029145	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs2029146	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs224448	0.84[ASN][1000 genomes]
rs224572	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2730655	0.80[EUR][1000 genomes]
rs370462	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3759405	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427020	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4438107	1.00[CHB][hapmap]
rs55874804	0.91[ASN][1000 genomes]
rs61934800	0.91[ASN][1000 genomes]
rs6580782	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6580785	1.00[CHB][hapmap]
rs6580788	1.00[CHB][hapmap]
rs6580791	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs706805	0.84[ASN][1000 genomes]
rs7134695	0.81[EUR][1000 genomes]
rs7135399	0.91[ASN][1000 genomes]
rs7136960	0.91[ASN][1000 genomes]
rs7953867	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976431	0.91[ASN][1000 genomes]
rs7977740	0.84[ASN][1000 genomes]
rs7980610	0.85[EUR][1000 genomes]
rs901313	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9739342	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7971308	DDN	cis	cerebellum	SCAN
rs7971308	KRT79	cis	cerebellum	SCAN
rs7971308	CSAD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51448200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51442800-51449000	Weak transcription	Aorta	Aorta
3	chr12:51442800-51449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51442800-51450000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51442800-51452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51443000-51448200	Weak transcription	Gastric	stomach
8	chr12:51443000-51453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:51443200-51447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:51443200-51449600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51443400-51447600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:51443400-51448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:51443400-51448200	Weak transcription	Esophagus	oesophagus
14	chr12:51443400-51449200	Weak transcription	Right Ventricle	heart
15	chr12:51443400-51452600	Weak transcription	Stomach Mucosa	stomach
16	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:51443600-51447600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:51443600-51447800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:51443600-51448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:51443600-51451600	Weak transcription	Colonic Mucosa	Colon
21	chr12:51443600-51451800	Weak transcription	Small Intestine	intestine
22	chr12:51443600-51452600	Weak transcription	Psoas Muscle	Psoas
23	chr12:51443600-51457400	Weak transcription	Fetal Brain Male	brain
24	chr12:51443600-51459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:51443600-51462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:51443800-51447800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:51443800-51448000	Weak transcription	NHLF	lung
28	chr12:51443800-51449000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:51443800-51455600	Weak transcription	Fetal Heart	heart
30	chr12:51443800-51462600	Strong transcription	A549	lung
31	chr12:51444000-51449600	Weak transcription	HUVEC	blood vessel
32	chr12:51444200-51448200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:51444200-51452400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:51444200-51454800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
36	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
40	chr12:51444400-51462800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:51444400-51464800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:51444600-51455600	Strong transcription	Fetal Intestine Small	intestine
43	chr12:51445000-51467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:51445400-51449600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:51445400-51449800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:51445400-51449800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:51445400-51454000	Strong transcription	Left Ventricle	heart
48	chr12:51445400-51462600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr12:51445400-51462600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:51445400-51462600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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