Variant report

Variant	rs963326
Chromosome Location	chr12:46605959-46605960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46604571..46607564-chr12:46643958..46646763,2	MCF-7	breast:
2	chr12:46595584..46597824-chr12:46604968..46606668,2	K562	blood:
3	chr12:46601918..46605358-chr12:46605865..46610216,5	MCF-7	breast:
4	chr12:46603045..46606011-chr12:46660345..46662347,2	K562	blood:
5	chr12:46598504..46606384-chr12:46660159..46664661,13	MCF-7	breast:
6	chr12:46605677..46608421-chr12:46611673..46613533,2	MCF-7	breast:
7	chr12:46593902..46597897-chr12:46605177..46609280,4	MCF-7	breast:
8	chr12:46601000..46609556-chr12:46658880..46665180,16	MCF-7	breast:
9	chr12:46604867..46608116-chr12:46608247..46612042,4	K562	blood:
10	chr12:46573708..46576866-chr12:46605688..46609208,4	MCF-7	breast:
11	chr12:46605506..46607763-chr12:46764959..46766840,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4768106	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768107	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768108	0.82[CEU][hapmap]
rs6582622	1.00[CHB][hapmap];0.82[GIH][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7971399	0.88[AMR][1000 genomes]
rs960117	1.00[CHB][hapmap];0.84[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes]
rs962683	1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs963326	IRAK4	cis	cerebellum	SCAN
rs963326	SLC48A1	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46589800-46608400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:46590800-46613200	Strong transcription	Hela-S3	cervix
3	chr12:46591000-46613200	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:46591000-46613600	Weak transcription	Fetal Brain Male	brain
5	chr12:46591000-46613600	Weak transcription	Gastric	stomach
6	chr12:46592400-46609800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:46592400-46613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:46592600-46606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
11	chr12:46597400-46614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
13	chr12:46598800-46606400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:46599400-46606400	Enhancers	Fetal Heart	heart
15	chr12:46600000-46613600	Weak transcription	NHLF	lung
16	chr12:46600600-46607400	Weak transcription	Fetal Kidney	kidney
17	chr12:46601200-46606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:46601200-46613200	Weak transcription	NH-A	brain
19	chr12:46601400-46606000	Weak transcription	Fetal Intestine Large	intestine
20	chr12:46601400-46613200	Weak transcription	Fetal Brain Female	brain
21	chr12:46601600-46606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:46601600-46606200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:46601600-46607000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:46601600-46607800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:46602600-46606000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:46603000-46607400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:46603200-46606200	Enhancers	Small Intestine	intestine
28	chr12:46603400-46606200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:46603600-46612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:46604000-46606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:46604000-46607400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:46604000-46608600	Weak transcription	Right Ventricle	heart
33	chr12:46604000-46608800	Weak transcription	Right Atrium	heart
34	chr12:46604000-46609800	Weak transcription	Psoas Muscle	Psoas
35	chr12:46604000-46610000	Weak transcription	Lung	lung
36	chr12:46604000-46610200	Weak transcription	Brain Germinal Matrix	brain
37	chr12:46604000-46613400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:46604200-46606000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:46604200-46606000	Weak transcription	Left Ventricle	heart
43	chr12:46604200-46606000	Weak transcription	HSMM	muscle
44	chr12:46604200-46606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:46604200-46607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:46604200-46608400	Weak transcription	Fetal Stomach	stomach
47	chr12:46604200-46608600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:46604200-46608600	Weak transcription	Esophagus	oesophagus
49	chr12:46604200-46608800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:46604200-46608800	Weak transcription	HSMMtube	muscle

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