Variant report

Variant	rs17096794
Chromosome Location	chr12:46604091-46604092
allele	A/G
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	chr12:46603552..46605159-chr12:46765085..46767410,2	MCF-7	breast:
3	chr12:46603045..46606011-chr12:46660345..46662347,2	K562	blood:
4	chr12:46598504..46606384-chr12:46660159..46664661,13	MCF-7	breast:
5	chr12:46601918..46605358-chr12:46605865..46610216,5	MCF-7	breast:
6	chr12:46601000..46609556-chr12:46658880..46665180,16	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11183394	0.82[CHB][hapmap]
rs11608815	1.00[CHB][hapmap]
rs11615731	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]
rs1444590	0.82[CHB][hapmap];0.91[CHD][hapmap];0.83[ASN][1000 genomes]
rs2289769	0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs6582621	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs7133522	0.82[CHB][hapmap];0.81[CHD][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17096794	LOC100233209	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 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	chr12:46601400-46604800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:46601400-46604800	Weak transcription	A549	lung
21	chr12:46601400-46605200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:46601400-46606000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:46601400-46613200	Weak transcription	Fetal Brain Female	brain
24	chr12:46601600-46604800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:46601600-46605000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:46601600-46605200	Enhancers	Primary B cells from cord blood	blood
27	chr12:46601600-46606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:46601600-46606200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:46601600-46607000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:46601600-46607800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:46601800-46605000	Enhancers	Primary T cells from cord blood	blood
32	chr12:46601800-46605400	Enhancers	Colon Smooth Muscle	Colon
33	chr12:46602000-46604200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:46602400-46604400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:46602400-46604600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:46602600-46604200	Enhancers	HMEC	breast
37	chr12:46602600-46604400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:46602600-46604800	Weak transcription	K562	blood
39	chr12:46602600-46606000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:46602800-46604200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:46602800-46604200	Enhancers	Brain Substantia Nigra	brain
42	chr12:46602800-46604400	Enhancers	Brain Anterior Caudate	brain
43	chr12:46602800-46604800	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:46602800-46605400	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:46603000-46604200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:46603000-46604200	Enhancers	HSMM	muscle
47	chr12:46603000-46604200	Enhancers	HSMMtube	muscle
48	chr12:46603000-46604400	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:46603000-46604400	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:46603000-46604400	Enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links