Variant report

Variant	rs10501319
Chromosome Location	chr11:47174062-47174063
allele	A/G
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	CTCF	chr11:47173779-47175556	SK-N-SH	brain:	n/a	chr11:47174815-47174836 chr11:47174822-47174835 chr11:47174820-47174838 chr11:47173836-47173844 chr11:47174821-47174837
2	CTCF	chr11:47174015-47175271	A549	lung:	n/a	chr11:47174815-47174836 chr11:47174822-47174835 chr11:47174820-47174838 chr11:47174821-47174837
3	RAD21	chr11:47173739-47175488	SK-N-SH	brain:	n/a	chr11:47174818-47174837 chr11:47174697-47174709 chr11:47174822-47174836 chr11:47174824-47174833
4	CTCF	chr11:47173980-47174130	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr11:47173928-47175390	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:47174013-47174065	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:47173818-47175361	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:47174008-47174062	K562	blood:	n/a	n/a
9	POLR2A	chr11:47173824-47174125	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47173854..47175804-chr11:47178111..47180557,3	K562	blood:
2	chr11:47162453..47166224-chr11:47170564..47174791,5	MCF-7	breast:

Variant related genes	Relation type
C11orf49	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10466478	0.83[CHB][hapmap]
rs1060573	0.83[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10742797	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs10769226	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs10769227	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10769228	0.84[ASN][1000 genomes]
rs10769234	0.86[CHB][hapmap]
rs10769248	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838640	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10838641	0.84[ASN][1000 genomes]
rs10838644	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs10838646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs10838652	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838658	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838660	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs10838662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838663	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs10838664	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039074	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11039080	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039081	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039097	0.83[CHB][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap]
rs11039098	0.85[ASN][1000 genomes]
rs11039105	0.83[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap]
rs11039112	0.83[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap]
rs11039119	0.83[CHB][hapmap];0.89[GIH][hapmap]
rs11600668	0.83[CHB][hapmap];0.89[GIH][hapmap]
rs11601798	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603373	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12224096	0.82[CHB][hapmap]
rs12417519	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12574410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12796744	0.83[CHB][hapmap];0.92[GIH][hapmap]
rs17790204	0.80[ASN][1000 genomes]
rs1872896	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs2029298	0.86[GIH][hapmap]
rs2087215	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279439	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758666	0.87[ASN][1000 genomes]
rs3758667	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs3922684	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4269876	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4315028	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4394802	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs4494268	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs4498951	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4528282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4548577	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4567413	0.84[GIH][hapmap]
rs4576779	0.96[ASN][1000 genomes]
rs4587689	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752815	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs4752816	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[ASN][1000 genomes]
rs4752951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4752957	0.83[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs4752962	0.83[CHB][hapmap]
rs4752965	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.99[ASN][1000 genomes]
rs4752967	0.83[CHB][hapmap]
rs4752968	0.90[ASN][1000 genomes]
rs4752969	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896133	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61896136	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897787	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61897844	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897857	0.87[ASN][1000 genomes]
rs6485715	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs6485716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6485726	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485739	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7103581	0.83[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs7108822	0.91[CEU][hapmap];0.88[ASN][1000 genomes]
rs7108902	0.83[CHB][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs7111270	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7112854	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7114683	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7121418	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7123632	0.82[ASN][1000 genomes]
rs7124648	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[ASN][1000 genomes]
rs7125807	0.82[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs7126005	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs7127741	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7128650	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[ASN][1000 genomes]
rs7130006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.93[ASN][1000 genomes]
rs7130947	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs747650	0.83[CHB][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap]
rs7929688	0.81[ASN][1000 genomes]
rs7931260	0.83[CHB][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs7935346	0.82[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs7937101	0.84[GIH][hapmap]
rs7937410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7938169	0.81[ASN][1000 genomes]
rs7939786	0.81[ASN][1000 genomes]
rs7940240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945315	0.83[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs7946709	0.83[CHB][hapmap];0.92[GIH][hapmap]
rs7950753	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7951979	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs901747	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923324	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47143600-47175200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47145200-47174800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:47153000-47174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47153400-47174800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:47155600-47174400	Weak transcription	Fetal Brain Male	brain
6	chr11:47158000-47174800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:47158800-47175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:47159800-47174200	Weak transcription	Primary B cells from cord blood	blood
9	chr11:47160000-47176400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:47160200-47174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:47161600-47174400	Weak transcription	Spleen	Spleen
12	chr11:47161600-47174600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:47161600-47176000	Weak transcription	Dnd41	blood
14	chr11:47164200-47175000	Weak transcription	HUVEC	blood vessel
15	chr11:47164400-47174400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:47164800-47174200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:47165000-47184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:47165000-47185000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:47165200-47185600	Weak transcription	Aorta	Aorta
20	chr11:47165400-47177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:47165600-47177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:47165600-47177800	Weak transcription	NHEK	skin
24	chr11:47168600-47177800	Weak transcription	A549	lung
25	chr11:47169200-47174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47169200-47176000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:47170000-47174400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:47170200-47174200	Weak transcription	Thymus	Thymus
29	chr11:47170800-47174400	Weak transcription	Colonic Mucosa	Colon
30	chr11:47170800-47174400	Weak transcription	HepG2	liver
31	chr11:47170800-47176800	Weak transcription	Lung	lung
32	chr11:47171000-47174200	Weak transcription	NHLF	lung
33	chr11:47171000-47174600	Weak transcription	Stomach Mucosa	stomach
34	chr11:47171000-47175200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:47171000-47177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:47171000-47177600	Weak transcription	Esophagus	oesophagus
37	chr11:47171000-47183400	Weak transcription	Gastric	stomach
38	chr11:47171200-47174200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:47171200-47174400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:47171200-47174400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:47171200-47174400	Weak transcription	Left Ventricle	heart
42	chr11:47171200-47176000	Weak transcription	Fetal Brain Female	brain
43	chr11:47171200-47177600	Weak transcription	Ovary	ovary
44	chr11:47171400-47174200	Weak transcription	Brain Anterior Caudate	brain
45	chr11:47171400-47174400	Weak transcription	Brain Angular Gyrus	brain
46	chr11:47171400-47174400	Weak transcription	Right Ventricle	heart
47	chr11:47171400-47174400	Weak transcription	Small Intestine	intestine
48	chr11:47171400-47174400	Weak transcription	HSMM	muscle
49	chr11:47171400-47174800	Weak transcription	Fetal Heart	heart
50	chr11:47171400-47174800	Weak transcription	Hela-S3	cervix

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