Variant report

Variant	rs4307773
Chromosome Location	chr12:51144432-51144433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51137171..51139793-chr12:51142823..51144654,3	K562	blood:
2	chr12:51137579..51140558-chr12:51140952..51144654,5	K562	blood:
3	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
4	chr12:51143226..51146888-chr12:51156078..51159984,4	K562	blood:
5	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
6	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000200428	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10459234	0.83[ASN][1000 genomes]
rs10459235	0.94[ASN][1000 genomes]
rs10506294	0.81[CHB][hapmap]
rs10506295	0.81[CHB][hapmap]
rs10747587	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs10783382	0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10783384	0.94[ASN][1000 genomes]
rs10783387	0.92[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs10783389	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10876076	0.81[CHB][hapmap]
rs10876080	0.93[ASN][1000 genomes]
rs10876081	0.96[ASN][1000 genomes]
rs10876084	0.86[EUR][1000 genomes]
rs10876087	0.84[EUR][1000 genomes]
rs10876089	0.94[ASN][1000 genomes]
rs10876090	0.89[ASN][1000 genomes]
rs10876092	0.83[EUR][1000 genomes]
rs10876094	0.91[ASN][1000 genomes]
rs10876095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10876096	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10876097	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10876098	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11169515	0.81[CHB][hapmap]
rs11169528	0.94[ASN][1000 genomes]
rs11169532	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169537	0.94[ASN][1000 genomes]
rs11169538	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11169539	0.93[ASN][1000 genomes]
rs11169544	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11169552	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11169554	0.94[ASN][1000 genomes]
rs11169560	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169561	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11169562	0.82[EUR][1000 genomes]
rs11169563	0.82[EUR][1000 genomes]
rs11169567	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11169571	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11169578	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs1129406	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11503907	0.88[EUR][1000 genomes]
rs11615933	0.92[ASN][1000 genomes]
rs12231309	0.81[CHB][hapmap]
rs12372718	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12424860	0.94[ASN][1000 genomes]
rs12580479	0.88[ASN][1000 genomes]
rs12809086	0.81[CHB][hapmap]
rs1344958	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17124930	0.80[CHB][hapmap]
rs35845404	0.94[ASN][1000 genomes]
rs3742063	0.94[ASN][1000 genomes]
rs3742064	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3809319	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3825402	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4026593	0.91[ASN][1000 genomes]
rs4238108	0.81[CHB][hapmap]
rs4768866	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4768903	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs4768906	0.94[ASN][1000 genomes]
rs4768907	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4768911	0.93[ASN][1000 genomes]
rs4768912	0.94[ASN][1000 genomes]
rs4768913	0.94[ASN][1000 genomes]
rs4768914	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4768917	0.99[ASN][1000 genomes]
rs4768921	0.94[ASN][1000 genomes]
rs4768922	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4768923	0.91[ASN][1000 genomes]
rs4768924	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4768925	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs61926301	0.81[EUR][1000 genomes]
rs61926303	0.83[EUR][1000 genomes]
rs7133974	0.92[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs7304335	0.82[EUR][1000 genomes]
rs7306677	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs73094900	0.99[ASN][1000 genomes]
rs73096846	0.94[ASN][1000 genomes]
rs7974517	0.85[EUR][1000 genomes]
rs864899	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs9943712	0.86[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4307773	LASS5	cis	parietal	SCAN
rs4307773	DIP2B	cis	cerebellum	SCAN
rs4307773	FAIM2	cis	cerebellum	SCAN
rs4307773	KRT73	cis	parietal	SCAN
rs4307773	DIP2B	cis	multi-tissue	Pritchard
rs4307773	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs4307773	ATF1	cis	Artery Tibial	GTEx
rs4307773	LASS5	cis	cerebellum	SCAN
rs4307773	CERS5	cis	Nerve Tibial	GTEx
rs4307773	KIAA1463	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
6	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr12:51111400-51144600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
9	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
12	chr12:51119200-51144600	Strong transcription	Liver	Liver
13	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
14	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:51126600-51145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:51129600-51144600	Strong transcription	Brain Anterior Caudate	brain
18	chr12:51130000-51145400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:51132800-51145400	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:51133600-51144600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:51135800-51145200	Weak transcription	Fetal Heart	heart
22	chr12:51135800-51146000	Weak transcription	NHDF-Ad	bronchial
23	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
24	chr12:51138800-51146000	Weak transcription	NHLF	lung
25	chr12:51139000-51145400	Weak transcription	Small Intestine	intestine
26	chr12:51139000-51146600	Weak transcription	Colonic Mucosa	Colon
27	chr12:51139000-51147200	Weak transcription	Gastric	stomach
28	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:51139200-51148600	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:51139600-51146400	Weak transcription	Hela-S3	cervix
31	chr12:51139600-51156000	Weak transcription	A549	lung
32	chr12:51139800-51147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:51140400-51145000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:51140400-51147400	Weak transcription	Esophagus	oesophagus
35	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:51140600-51147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:51140800-51144600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:51141400-51147000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:51141600-51147000	Weak transcription	Fetal Brain Male	brain
40	chr12:51141600-51149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:51141800-51145400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
44	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:51142000-51145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:51142000-51145800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:51142000-51146000	Weak transcription	Right Ventricle	heart
48	chr12:51142000-51146600	Weak transcription	Aorta	Aorta
49	chr12:51142000-51147000	Weak transcription	Dnd41	blood
50	chr12:51142000-51147200	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links