Variant report

Variant	rs11615731
Chromosome Location	chr12:46603400-46603401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46602512..46604164-chr12:46658365..46660117,2	MCF-7	breast:
2	chr12:46603045..46606011-chr12:46660345..46662347,2	K562	blood:
3	chr12:46598504..46606384-chr12:46660159..46664661,13	MCF-7	breast:
4	chr12:46601918..46605358-chr12:46605865..46610216,5	MCF-7	breast:
5	chr12:46601000..46609556-chr12:46658880..46665180,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10880935	1.00[CHB][hapmap]
rs11183394	1.00[CHB][hapmap];0.93[GIH][hapmap]
rs11608815	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12422328	0.88[ASN][1000 genomes]
rs1444590	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[ASN][1000 genomes]
rs17096794	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2289769	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs6582621	1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.80[TSI][hapmap]
rs7133522	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap]
rs7959450	0.83[CEU][hapmap]
rs7977873	1.00[MKK][hapmap];1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754441	chr12:46590364-46605239	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:129 , 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	chr12:46590600-46603600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:46590600-46603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:46590800-46613200	Strong transcription	Hela-S3	cervix
5	chr12:46591000-46613200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:46591000-46613600	Weak transcription	Fetal Brain Male	brain
7	chr12:46591000-46613600	Weak transcription	Gastric	stomach
8	chr12:46591800-46603600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:46592400-46603400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:46592400-46609800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:46592400-46613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:46592600-46603600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:46592600-46606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:46592800-46603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:46592800-46603400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:46593000-46603800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:46593800-46603400	Weak transcription	Dnd41	blood
19	chr12:46595800-46603800	Weak transcription	Spleen	Spleen
20	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
21	chr12:46597400-46614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
23	chr12:46598800-46604000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:46598800-46606400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:46599000-46603800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:46599400-46606400	Enhancers	Fetal Heart	heart
27	chr12:46599800-46603400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:46600000-46613600	Weak transcription	NHLF	lung
29	chr12:46600600-46603800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:46600600-46607400	Weak transcription	Fetal Kidney	kidney
31	chr12:46600800-46603600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:46601200-46603600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:46601200-46603800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:46601200-46606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:46601200-46613200	Weak transcription	NH-A	brain
36	chr12:46601400-46603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:46601400-46603800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:46601400-46604000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:46601400-46604800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:46601400-46604800	Weak transcription	A549	lung
41	chr12:46601400-46605200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:46601400-46606000	Weak transcription	Fetal Intestine Large	intestine
43	chr12:46601400-46613200	Weak transcription	Fetal Brain Female	brain
44	chr12:46601600-46603400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:46601600-46603800	Weak transcription	Placenta	Placenta
46	chr12:46601600-46604800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:46601600-46605000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:46601600-46605200	Enhancers	Primary B cells from cord blood	blood
49	chr12:46601600-46606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:46601600-46606200	Weak transcription	Primary hematopoietic stem cells	blood

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