Variant report

Variant	rs12670377
Chromosome Location	chr7:96786625-96786626
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96746484..96749915-chr7:96785838..96788939,4	K562	blood:

Variant related genes	Relation type
ENSG00000196636	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014341	0.82[CHD][hapmap]
rs10229181	0.82[JPT][hapmap]
rs10231916	0.82[CHD][hapmap]
rs10235199	0.82[JPT][hapmap]
rs10256036	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269566	0.85[CEU][hapmap]
rs10499934	0.86[CEU][hapmap];0.87[TSI][hapmap]
rs10953203	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953204	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11975277	0.86[YRI][hapmap]
rs11976587	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs11984368	0.90[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1199287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199289	0.82[JPT][hapmap]
rs1199292	0.82[CHD][hapmap]
rs12056091	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2037782	0.90[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs56074841	0.93[EUR][1000 genomes]
rs60195718	0.92[EUR][1000 genomes]
rs62499465	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62499469	0.93[EUR][1000 genomes]
rs62499470	0.93[EUR][1000 genomes]
rs62499471	0.93[EUR][1000 genomes]
rs62499475	0.95[EUR][1000 genomes]
rs62499477	0.95[EUR][1000 genomes]
rs62499478	0.93[EUR][1000 genomes]
rs62499479	0.93[EUR][1000 genomes]
rs6465569	0.86[CEU][hapmap]
rs6973369	0.82[CHD][hapmap]
rs73233831	0.93[EUR][1000 genomes]
rs73233843	0.93[EUR][1000 genomes]
rs7787376	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs7794886	0.82[CHD][hapmap]
rs7810432	0.82[CHD][hapmap]

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	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12670377	ACN9	cis	lymphoblastoid	seeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96768400-96789000	Weak transcription	Aorta	Aorta
3	chr7:96768800-96790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
5	chr7:96769000-96789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:96769000-96790000	Weak transcription	Ovary	ovary
7	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:96769200-96789800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:96769200-96791200	Weak transcription	Fetal Kidney	kidney
11	chr7:96769400-96793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:96769600-96788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:96769600-96788800	Weak transcription	Primary B cells from cord blood	blood
14	chr7:96769600-96789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:96769800-96788400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:96769800-96789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:96771400-96818200	Weak transcription	A549	lung
18	chr7:96772400-96788800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:96772800-96788400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:96776400-96788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:96777200-96788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:96778000-96788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:96778600-96789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:96778600-96792600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:96779000-96789000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:96779000-96789200	Weak transcription	Lung	lung
27	chr7:96779600-96788800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:96780000-96790800	Weak transcription	Fetal Brain Male	brain
29	chr7:96781800-96788600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:96783200-96788400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:96783200-96788400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:96783600-96797000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:96783800-96788800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:96783800-96789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:96784000-96788200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:96785600-96788600	Weak transcription	Liver	Liver
37	chr7:96785600-96790000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:96785600-96796800	Weak transcription	HepG2	liver
39	chr7:96785800-96788400	Weak transcription	K562	blood
40	chr7:96786200-96788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:96786400-96786800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr7:96786400-96786800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:96786400-96790400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr7:96786600-96786800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr7:96786600-96788000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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