Variant report

Variant	rs11148219
Chromosome Location	chr13:51987718-51987719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51987608..51990025-chr13:52024384..52028286,4	K562	blood:
2	chr13:51987238..51991497-chr13:51991664..51994935,3	K562	blood:
3	chr13:51986391..51989343-chr13:52354018..52356023,2	MCF-7	breast:
4	chr13:51987265..51989295-chr13:52025339..52028286,3	K562	blood:
5	chr13:51987155..51989233-chr13:51992087..51994561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs11148215	0.93[EUR][1000 genomes]
rs11148216	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11148217	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11838784	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11839165	0.93[EUR][1000 genomes]
rs11842573	0.93[EUR][1000 genomes]
rs11842878	0.93[EUR][1000 genomes]
rs11843638	0.93[EUR][1000 genomes]
rs11843641	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12100084	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100112	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184757	1.00[CEU][hapmap]
rs12584325	0.93[EUR][1000 genomes]
rs12584416	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12585171	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12585343	0.93[EUR][1000 genomes]
rs12586110	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1413103	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1547710	0.82[JPT][hapmap]
rs1570549	0.85[EUR][1000 genomes]
rs1570550	0.85[EUR][1000 genomes]
rs17194921	0.93[EUR][1000 genomes]
rs17194928	0.93[EUR][1000 genomes]
rs17194935	0.93[EUR][1000 genomes]
rs17194955	0.93[EUR][1000 genomes]
rs17194985	0.93[EUR][1000 genomes]
rs17195027	0.93[EUR][1000 genomes]
rs17252180	0.82[JPT][hapmap]
rs17252193	0.82[JPT][hapmap]
rs17252200	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17529985	0.86[EUR][1000 genomes]
rs17790799	0.93[EUR][1000 genomes]
rs17790811	0.93[EUR][1000 genomes]
rs17790838	0.93[EUR][1000 genomes]
rs17837214	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17837215	0.82[JPT][hapmap]
rs17837216	0.82[JPT][hapmap]
rs17837217	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4941699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942993	0.89[EUR][1000 genomes]
rs4942994	0.89[EUR][1000 genomes]
rs4942995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942997	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4942998	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4942999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59024783	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs59215783	0.85[EUR][1000 genomes]
rs60860538	0.85[EUR][1000 genomes]
rs61956888	0.85[EUR][1000 genomes]
rs61956889	0.85[EUR][1000 genomes]
rs61956909	0.93[EUR][1000 genomes]
rs61956910	0.93[EUR][1000 genomes]
rs61956911	0.86[EUR][1000 genomes]
rs61956912	0.93[EUR][1000 genomes]
rs61956913	0.93[EUR][1000 genomes]
rs61956914	0.93[EUR][1000 genomes]
rs61956915	0.93[EUR][1000 genomes]
rs61956916	0.93[EUR][1000 genomes]
rs61956917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956937	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956938	0.93[EUR][1000 genomes]
rs61956942	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956943	0.93[EUR][1000 genomes]
rs61956944	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61956945	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61956947	0.93[EUR][1000 genomes]
rs61956949	0.93[EUR][1000 genomes]
rs61956950	0.93[EUR][1000 genomes]
rs61956951	0.93[EUR][1000 genomes]
rs61956952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956955	0.93[EUR][1000 genomes]
rs73195977	0.93[EUR][1000 genomes]
rs73195982	0.93[EUR][1000 genomes]
rs73195996	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197808	0.93[EUR][1000 genomes]
rs7333988	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7400061	0.93[EUR][1000 genomes]
rs7988157	0.89[EUR][1000 genomes]
rs7990114	0.93[EUR][1000 genomes]
rs7992891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995268	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs8001625	0.85[EUR][1000 genomes]
rs9316535	0.93[EUR][1000 genomes]
rs9316537	0.81[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563041	0.93[EUR][1000 genomes]
rs9563042	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9563043	0.93[EUR][1000 genomes]
rs9563044	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs9563045	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9563047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9563049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563050	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9563052	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9563053	0.93[EUR][1000 genomes]
rs9563054	0.93[EUR][1000 genomes]
rs9563055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9563056	0.86[EUR][1000 genomes]
rs9568564	0.85[EUR][1000 genomes]
rs9568565	0.85[EUR][1000 genomes]
rs9568566	0.93[EUR][1000 genomes]
rs9568567	0.93[EUR][1000 genomes]
rs9568568	0.93[EUR][1000 genomes]
rs9568569	0.93[EUR][1000 genomes]
rs9568570	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568571	0.93[EUR][1000 genomes]
rs9568572	0.93[EUR][1000 genomes]
rs9568573	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568574	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568575	0.89[EUR][1000 genomes]
rs9568576	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568578	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9568579	0.93[EUR][1000 genomes]
rs9568580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568581	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9568585	0.93[EUR][1000 genomes]
rs9568586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568588	0.93[EUR][1000 genomes]
rs9568589	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568590	0.93[EUR][1000 genomes]
rs9568591	0.93[EUR][1000 genomes]
rs9568592	0.93[EUR][1000 genomes]
rs9568593	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9568594	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568609	0.86[EUR][1000 genomes]
rs9634684	1.00[CEU][hapmap]
rs9634685	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9634838	0.93[EUR][1000 genomes]
rs9634839	0.93[EUR][1000 genomes]
rs9634840	0.93[EUR][1000 genomes]
rs9634844	0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11148219	Hs.123474	cis	multi-tissue	Pritchard

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51945800-52016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:51946200-51988000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:51949400-52025000	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:51950000-52025200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:51950200-51999800	Weak transcription	Brain Germinal Matrix	brain
6	chr13:51958000-51996800	Weak transcription	Thymus	Thymus
7	chr13:51958200-51990000	Weak transcription	HMEC	breast
8	chr13:51958400-51987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:51959800-51989400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:51962200-51989600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:51962200-51993200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:51963200-52024800	Weak transcription	Fetal Intestine Large	intestine
13	chr13:51963600-51989800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:51963600-52003600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:51968200-51989800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:51969600-51995000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:51971800-51990000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:51971800-52025000	Weak transcription	Fetal Stomach	stomach
19	chr13:51972000-51987800	Weak transcription	Adipose Nuclei	Adipose
20	chr13:51972000-51988000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:51972000-51989600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:51972000-51989800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:51972000-51990000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:51972000-51990000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:51972000-51990000	Weak transcription	K562	blood
26	chr13:51972000-51990000	Weak transcription	NHEK	skin
27	chr13:51972000-51990000	Weak transcription	NHLF	lung
28	chr13:51972000-51993400	Weak transcription	Stomach Mucosa	stomach
29	chr13:51972000-51995000	Weak transcription	Placenta	Placenta
30	chr13:51972000-51995200	Weak transcription	HSMMtube	muscle
31	chr13:51972000-51996800	Weak transcription	Ovary	ovary
32	chr13:51972000-51999400	Weak transcription	Small Intestine	intestine
33	chr13:51972000-52005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:51972000-52016000	Weak transcription	Pancreas	Pancrea
35	chr13:51972200-51989600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:51972400-51996400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:51972600-51990000	Weak transcription	A549	lung
38	chr13:51972600-51993000	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:51972800-51989600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:51973200-51992000	Weak transcription	NHDF-Ad	bronchial
41	chr13:51973600-51988000	Weak transcription	Aorta	Aorta
42	chr13:51973800-51993200	Weak transcription	Hela-S3	cervix
43	chr13:51974200-51989400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:51974200-51989600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:51974400-51988000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:51974400-51989800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr13:51974800-51987800	Weak transcription	Primary T cells from cord blood	blood
48	chr13:51976000-51988000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:51977000-51996800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr13:51977200-51988000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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