Variant report

Variant	rs747650
Chromosome Location	chr11:47176005-47176006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47175824-47176279	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47175907-47178893	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:47175940-47176602	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:47175986-47176086	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47175901-47176215	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46867413..46869550-chr11:47174916..47176891,2	K562	blood:
2	chr11:46910842..46911409-chr11:47175395..47176304,2	K562	blood:
3	chr11:46958122..46959949-chr11:47174429..47176046,2	MCF-7	breast:
4	chr11:46910425..46912611-chr11:47175096..47177749,2	K562	blood:

No data

Variant related genes	Relation type
C11orf49	TF binding region
ENSG00000134569	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000149179	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10466478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501319	0.83[CHB][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap]
rs1055447	0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1060573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769225	0.82[CHB][hapmap]
rs10769226	0.83[CHB][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs10769227	0.83[CHB][hapmap]
rs10769230	0.83[ASN][1000 genomes]
rs10769233	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769239	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838640	0.83[CHB][hapmap]
rs10838644	0.83[CHB][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs10838646	0.83[CHB][hapmap]
rs10838652	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs10838654	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838658	0.82[CHB][hapmap]
rs10838659	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838662	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10838663	0.83[CHB][hapmap]
rs10838664	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs11039074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039086	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039107	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039112	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039119	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039124	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039134	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11600668	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601798	0.85[CHB][hapmap]
rs12224096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291341	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12417519	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs12574410	0.86[CHB][hapmap]
rs12796744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12807887	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965952	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976142	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1976143	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029298	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2087215	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs2279438	0.83[CHB][hapmap]
rs2279439	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs4237547	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4319472	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4394802	0.91[GIH][hapmap];0.82[MEX][hapmap]
rs4528282	0.82[CHB][hapmap]
rs4548577	0.83[CHB][hapmap]
rs4567413	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4579897	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4587689	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4752815	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4752816	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4752951	0.82[CHB][hapmap]
rs4752952	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752963	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752965	0.83[CHB][hapmap]
rs4752967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752969	0.83[CHB][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap]
rs4752971	0.95[CEU][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57323109	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485716	0.86[CHB][hapmap]
rs6485721	0.86[ASN][1000 genomes]
rs6485722	0.85[ASN][1000 genomes]
rs6485726	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs6485739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7108902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111270	0.83[CHB][hapmap]
rs7111764	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112854	0.82[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7118546	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119952	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7121418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124648	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7125807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[ASN][1000 genomes]
rs7126005	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7128325	0.86[ASN][1000 genomes]
rs7128650	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7130006	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs7130947	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs7479189	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[ASN][1000 genomes]
rs7931260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap]
rs7935346	0.91[GIH][hapmap]
rs7937101	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937410	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs7937950	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7940240	0.83[CHB][hapmap];0.88[GIH][hapmap]
rs7942473	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7947878	0.82[ASN][1000 genomes]
rs7950753	0.83[CHB][hapmap];0.91[GIH][hapmap]
rs923324	0.82[CHB][hapmap]
rs9633886	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Acne (severe)	24399259	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs747650	C11orf49	cis	parietal	SCAN
rs747650	F2	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47160000-47176400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:47165000-47184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:47165000-47185000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:47165200-47185600	Weak transcription	Aorta	Aorta
5	chr11:47165400-47177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:47165600-47177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:47165600-47177800	Weak transcription	NHEK	skin
9	chr11:47168600-47177800	Weak transcription	A549	lung
10	chr11:47170800-47176800	Weak transcription	Lung	lung
11	chr11:47171000-47177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47171000-47177600	Weak transcription	Esophagus	oesophagus
13	chr11:47171000-47183400	Weak transcription	Gastric	stomach
14	chr11:47171200-47177600	Weak transcription	Ovary	ovary
15	chr11:47171400-47186000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:47171600-47186400	Weak transcription	Psoas Muscle	Psoas
17	chr11:47173800-47176400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:47173800-47176800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:47173800-47177000	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:47173800-47178000	Enhancers	Fetal Thymus	thymus
21	chr11:47174000-47176600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:47174000-47176600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:47174000-47176800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:47174000-47176800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:47174000-47178000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:47174200-47176200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:47174200-47176200	Enhancers	NHLF	lung
28	chr11:47174200-47176400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:47174200-47176400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:47174200-47176400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:47174200-47177400	Enhancers	Thymus	Thymus
32	chr11:47174200-47177800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:47174200-47178000	Enhancers	Brain Anterior Caudate	brain
34	chr11:47174400-47176200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:47174400-47176200	Enhancers	Osteobl	bone
36	chr11:47174400-47176600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:47174400-47177000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:47174800-47176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr11:47174800-47178600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:47174800-47179000	Weak transcription	Spleen	Spleen
41	chr11:47174800-47179200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:47174800-47182400	Weak transcription	Right Ventricle	heart
43	chr11:47174800-47183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:47174800-47185600	Weak transcription	Left Ventricle	heart
45	chr11:47175000-47176200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:47175000-47176400	Weak transcription	Primary B cells from cord blood	blood
47	chr11:47175000-47176600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47175200-47176400	Weak transcription	Fetal Lung	lung
49	chr11:47175200-47176600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:47175200-47176600	Enhancers	Primary T helper cells fromperipheralblood	blood

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