Variant report

Variant	rs11065311
Chromosome Location	chr12:121324115-121324116
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121319672..121322642-chr12:121322756..121324594,2	K562	blood:
2	chr12:121321411..121324329-chr12:121329045..121331159,2	MCF-7	breast:
3	chr12:121091737..121094727-chr12:121324092..121325900,2	K562	blood:
4	chr12:121312962..121314720-chr12:121324076..121325928,2	K562	blood:
5	chr12:121316464..121318952-chr12:121321277..121324869,5	K562	blood:
6	chr12:121322714..121325661-chr12:121340811..121343321,2	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10774572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065284	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065293	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065307	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065332	0.84[ASN][1000 genomes]
rs1151849	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151859	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11608262	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11611087	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1168944	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168946	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168948	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168953	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1177585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1179939	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12371178	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12372231	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12809299	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12822123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12824150	0.85[CEU][hapmap]
rs12825746	0.83[ASN][1000 genomes]
rs12831094	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13746	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1542859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696357	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1696390	0.86[ASN][1000 genomes]
rs1718188	0.88[ASN][1000 genomes]
rs2047568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs2062507	0.85[CEU][hapmap]
rs2393716	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2393717	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2650017	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2701177	0.88[ASN][1000 genomes]
rs2701184	0.90[ASN][1000 genomes]
rs2893876	0.83[EUR][1000 genomes]
rs3213566	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3213570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3213572	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34009825	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076777	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35600816	0.81[ASN][1000 genomes]
rs35706672	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35905305	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809313	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842985	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3861797	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3883901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3897746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4454799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs471688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4766979	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766980	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767935	0.85[CEU][hapmap]
rs4767937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4767941	0.89[ASN][1000 genomes]
rs487943	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs508595	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs520753	0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531782	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs533264	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs548452	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs572016	0.83[ASN][1000 genomes]
rs577961	0.83[ASN][1000 genomes]
rs58291418	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58918988	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590625	0.83[ASN][1000 genomes]
rs602984	0.91[ASN][1000 genomes]
rs609700	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs610694	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61946382	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61946383	0.87[ASN][1000 genomes]
rs61946384	0.88[ASN][1000 genomes]
rs61946385	0.87[ASN][1000 genomes]
rs61946386	0.87[ASN][1000 genomes]
rs624216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs625228	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs647881	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs665585	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs666976	0.91[ASN][1000 genomes]
rs7137504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs73413868	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73415720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415734	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7967190	0.83[ASN][1000 genomes]
rs7969140	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7980311	0.90[ASN][1000 genomes]
rs869781	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904628	0.82[ASN][1000 genomes]
rs909053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9431	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs989986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs989987	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11065311	SPPL3	cis	Nerve Tibial	GTEx
rs11065311	SPPL3	cis	Adipose Subcutaneous	GTEx
rs11065311	ACADS	cis	Thyroid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:121304200-121329800	Weak transcription	K562	blood
7	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121304800-121324200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:121306600-121326600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
14	chr12:121313000-121325800	Weak transcription	Ovary	ovary
15	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:121313400-121330000	Weak transcription	Psoas Muscle	Psoas
17	chr12:121313400-121332400	Weak transcription	Lung	lung
18	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
20	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
22	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:121317600-121331400	Weak transcription	HepG2	liver
25	chr12:121317600-121339600	Weak transcription	HMEC	breast
26	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:121318000-121325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:121318200-121339600	Weak transcription	NHEK	skin
29	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:121320200-121324200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:121320800-121328600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:121320800-121328800	Weak transcription	Liver	Liver
33	chr12:121321800-121324200	Enhancers	Primary T cells from cord blood	blood
34	chr12:121322400-121326800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:121322600-121327000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:121322600-121327200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:121322800-121324800	Enhancers	Primary B cells from cord blood	blood
38	chr12:121322800-121326400	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:121322800-121327200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:121323000-121324200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:121323000-121325000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:121323000-121325200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:121323000-121326000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:121323000-121327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:121323200-121324400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:121323200-121324800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:121323200-121325200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:121323200-121325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:121323200-121325400	Enhancers	Thymus	Thymus
50	chr12:121323200-121325400	Enhancers	Monocytes-CD14+_RO01746	blood

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