Variant report

Variant	rs7951870
Chromosome Location	chr11:46373311-46373312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46373172..46374329-chr11:46388720..46389801,4	K562	blood:
2	chr11:46237842..46240799-chr11:46371780..46373451,2	K562	blood:
3	chr11:46372835..46374404-chr11:46388233..46390300,15	MCF-7	breast:
4	chr11:46373233..46374573-chr11:46384927..46385770,7	MCF-7	breast:
5	chr11:46212954..46215215-chr11:46371388..46373491,2	K562	blood:
6	chr11:46263199..46264892-chr11:46372073..46373594,2	MCF-7	breast:
7	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
8	chr11:46373104..46374080-chr11:46559127..46559801,2	MCF-7	breast:
9	chr11:46372075..46374897-chr11:46564575..46567460,2	K562	blood:
10	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
11	chr11:46309562..46312239-chr11:46372059..46374065,2	K562	blood:
12	chr11:46371280..46374024-chr11:46406319..46409104,3	K562	blood:
13	chr11:46373005..46374579-chr11:46384589..46385813,14	MCF-7	breast:
14	chr11:46369907..46371669-chr11:46372067..46373780,2	MCF-7	breast:
15	chr11:46372991..46374307-chr11:46385236..46386241,3	MCF-7	breast:
16	chr11:46370537..46375565-chr11:46394528..46400368,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000180720	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10160701	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10838602	0.95[EUR][1000 genomes]
rs11038897	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs11038900	0.97[EUR][1000 genomes]
rs11038906	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes]
rs11038914	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs11038919	0.94[EUR][1000 genomes]
rs11038927	0.94[EUR][1000 genomes]
rs11819869	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs12272795	1.00[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs12283172	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs12292425	0.91[EUR][1000 genomes]
rs12295266	0.92[EUR][1000 genomes]
rs12573978	0.97[EUR][1000 genomes]
rs12574250	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs12574668	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12575519	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576115	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576317	0.97[EUR][1000 genomes]
rs12576359	0.95[EUR][1000 genomes]
rs12577142	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12578042	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1472001	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs1489192	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs16938506	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs17197116	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2046768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067482	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2171667	1.00[CEU][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes]
rs2171668	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2279465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291487	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2864072	0.97[EUR][1000 genomes]
rs2864076	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2902858	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs34406563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35324223	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35623865	0.92[EUR][1000 genomes]
rs3740974	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3740977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802888	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs3809047	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55657382	0.90[EUR][1000 genomes]
rs55661562	0.90[EUR][1000 genomes]
rs57535407	0.97[EUR][1000 genomes]
rs58147945	0.97[EUR][1000 genomes]
rs59319338	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60722866	0.87[EUR][1000 genomes]
rs60932698	0.88[EUR][1000 genomes]
rs61882674	0.83[EUR][1000 genomes]
rs61882678	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61882682	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61882683	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61882691	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61882701	0.97[EUR][1000 genomes]
rs61882702	0.97[EUR][1000 genomes]
rs61882706	0.96[EUR][1000 genomes]
rs61882709	0.99[EUR][1000 genomes]
rs61882710	0.97[EUR][1000 genomes]
rs61882711	0.97[EUR][1000 genomes]
rs61882712	0.95[EUR][1000 genomes]
rs61882720	0.94[EUR][1000 genomes]
rs61882743	0.94[EUR][1000 genomes]
rs61882746	0.98[EUR][1000 genomes]
rs61882748	0.97[EUR][1000 genomes]
rs61882750	0.98[EUR][1000 genomes]
rs61882756	0.90[EUR][1000 genomes]
rs61882757	0.92[EUR][1000 genomes]
rs61882758	0.92[EUR][1000 genomes]
rs61884262	0.84[EUR][1000 genomes]
rs61884264	0.92[EUR][1000 genomes]
rs61884271	0.88[EUR][1000 genomes]
rs6485682	1.00[CEU][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes]
rs6485685	0.90[EUR][1000 genomes]
rs7108770	0.90[EUR][1000 genomes]
rs7112229	0.93[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7122039	0.91[EUR][1000 genomes]
rs7125907	0.91[EUR][1000 genomes]
rs7127529	0.98[EUR][1000 genomes]
rs7130141	0.87[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs73449983	0.92[EUR][1000 genomes]
rs7481312	0.94[EUR][1000 genomes]
rs7484002	0.90[EUR][1000 genomes]
rs7924401	0.91[EUR][1000 genomes]
rs7930103	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs7932866	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs7936413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946705	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7951579	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs876701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7951870	C11orf49	cis	parietal	SCAN
rs7951870	ATG13	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370200-46373400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:46370200-46375800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:46370400-46373400	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:46370400-46373400	Enhancers	Fetal Intestine Large	intestine
7	chr11:46370400-46373600	Enhancers	Pancreas	Pancrea
8	chr11:46370400-46374400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:46370400-46375000	Enhancers	Gastric	stomach
10	chr11:46370400-46375200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:46370400-46375200	Enhancers	Left Ventricle	heart
12	chr11:46370400-46382400	Weak transcription	Psoas Muscle	Psoas
13	chr11:46370400-46384000	Weak transcription	A549	lung
14	chr11:46370600-46373400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:46370600-46373400	Genic enhancers	NHEK	skin
16	chr11:46370600-46374200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:46370600-46382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:46370800-46373400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:46370800-46373600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:46370800-46373600	Enhancers	HMEC	breast
21	chr11:46370800-46375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:46370800-46375000	Enhancers	Adipose Nuclei	Adipose
23	chr11:46370800-46375000	Enhancers	Fetal Heart	heart
24	chr11:46370800-46375200	Genic enhancers	Fetal Intestine Small	intestine
25	chr11:46370800-46375400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:46370800-46378200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:46370800-46382400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:46370800-46382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:46370800-46382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:46371000-46373400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:46371000-46373400	Weak transcription	HSMM	muscle
32	chr11:46371000-46374800	Weak transcription	Osteobl	bone
33	chr11:46371000-46375800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:46371000-46376600	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:46371000-46378400	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:46371000-46382400	Weak transcription	HSMMtube	muscle
37	chr11:46371000-46382400	Weak transcription	HUVEC	blood vessel
38	chr11:46371200-46373600	Enhancers	Brain Angular Gyrus	brain
39	chr11:46371200-46373600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr11:46371200-46377800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:46371200-46378200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:46371400-46373400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:46371400-46376200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:46371400-46380200	Genic enhancers	Fetal Thymus	thymus
45	chr11:46371400-46382400	Weak transcription	NH-A	brain
46	chr11:46371600-46373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:46371600-46373400	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:46371600-46373800	Genic enhancers	Thymus	Thymus
49	chr11:46371600-46375000	Weak transcription	NHLF	lung
50	chr11:46371600-46375600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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