Variant report

Variant	rs11169548
Chromosome Location	chr12:51146511-51146512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:51146116-51146602	GM12878	blood:	n/a	n/a
2	NFIC	chr12:51146087-51146593	GM12878	blood:	n/a	n/a
3	NFATC1	chr12:51146075-51146605	GM12878	blood:	n/a	n/a
4	MEF2A	chr12:51146072-51146656	GM12878	blood:	n/a	chr12:51146368-51146379 chr12:51146362-51146383 chr12:51146366-51146381 chr12:51146270-51146291 chr12:51146273-51146289 chr12:51146274-51146289 chr12:51146369-51146378 chr12:51146365-51146381 chr12:51146367-51146381 chr12:51146274-51146290 chr12:51146362-51146383 chr12:51146274-51146289 chr12:51146367-51146382 chr12:51146366-51146382 chr12:51146362-51146383 chr12:51146276-51146287
5	ATF2	chr12:51146068-51146554	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:51145953-51146694	K562	blood:	n/a	n/a
7	MEF2A	chr12:51145983-51146549	GM12878	blood:	n/a	chr12:51146368-51146379 chr12:51146362-51146383 chr12:51146366-51146381 chr12:51146270-51146291 chr12:51146273-51146289 chr12:51146274-51146289 chr12:51146369-51146378 chr12:51146365-51146381 chr12:51146367-51146381 chr12:51146274-51146290 chr12:51146362-51146383 chr12:51146274-51146289 chr12:51146367-51146382 chr12:51146366-51146382 chr12:51146362-51146383 chr12:51146276-51146287
8	RUNX3	chr12:51146168-51146571	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51139833..51142422-chr12:51145085..51147919,2	MCF-7	breast:
2	chr12:51140868..51142925-chr12:51146506..51148272,2	K562	blood:
3	chr12:51144572..51146832-chr12:51148716..51151527,2	K562	blood:
4	chr12:51143226..51146888-chr12:51156078..51159984,4	K562	blood:
5	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:
6	chr12:51145625..51148409-chr12:51149205..51150872,2	K562	blood:

Variant related genes	Relation type
ENSG00000271018	TF binding region
ENSG00000271018	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12296966	0.85[AMR][1000 genomes]
rs12299989	1.00[YRI][hapmap]
rs12301118	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322206	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs12322925	0.80[MKK][hapmap]
rs17124949	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124978	1.00[YRI][hapmap]
rs939633	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
3	chr12:51139000-51146600	Weak transcription	Colonic Mucosa	Colon
4	chr12:51139000-51147200	Weak transcription	Gastric	stomach
5	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:51139200-51148600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:51139600-51156000	Weak transcription	A549	lung
8	chr12:51139800-51147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:51140400-51147400	Weak transcription	Esophagus	oesophagus
10	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:51140600-51147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:51141400-51147000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51141600-51147000	Weak transcription	Fetal Brain Male	brain
14	chr12:51141600-51149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
17	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:51142000-51146600	Weak transcription	Aorta	Aorta
19	chr12:51142000-51147000	Weak transcription	Dnd41	blood
20	chr12:51142000-51147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:51142000-51147400	Weak transcription	Ovary	ovary
22	chr12:51142000-51156200	Weak transcription	HMEC	breast
23	chr12:51142000-51156200	Weak transcription	Osteobl	bone
24	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
25	chr12:51142200-51146600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:51142200-51147400	Weak transcription	Brain Substantia Nigra	brain
27	chr12:51142200-51147600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:51142200-51156400	Weak transcription	NH-A	brain
33	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
35	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
38	chr12:51143400-51147000	Weak transcription	Left Ventricle	heart
39	chr12:51143600-51147800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:51143600-51149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:51143800-51147000	Weak transcription	NHEK	skin
44	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
45	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
46	chr12:51144000-51147400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:51144000-51154200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:51144000-51154400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:51144200-51147200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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