Variant report

Variant	rs11761804
Chromosome Location	chr7:2792524-2792525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
2	chr7:2772721..2775716-chr7:2791855..2793482,2	K562	blood:
3	chr7:2790103..2793093-chr7:2798943..2803164,4	K562	blood:
4	chr7:2790104..2792525-chr7:2796033..2798907,2	K562	blood:

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11764225	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11765386	0.93[MEX][hapmap]
rs11765492	0.89[CEU][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs11765726	0.92[CEU][hapmap]
rs11769532	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11772508	0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs11971014	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12540539	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs17132594	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17132624	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17132665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132741	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs17132744	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17241904	0.81[AMR][1000 genomes]
rs17300022	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726557	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55767077	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55776032	0.86[EUR][1000 genomes]
rs55832916	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56007918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56208415	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56356906	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56399783	0.86[EUR][1000 genomes]
rs6461600	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6964740	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6967664	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73033403	0.84[AMR][1000 genomes]
rs73033407	0.82[AMR][1000 genomes]
rs73033408	0.83[AMR][1000 genomes]
rs73047343	0.82[EUR][1000 genomes]
rs73047355	0.80[EUR][1000 genomes]
rs73047368	0.86[EUR][1000 genomes]
rs73047387	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73047393	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049305	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049327	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049341	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049362	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049380	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73051415	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73051444	0.81[AMR][1000 genomes]
rs73051469	0.84[AMR][1000 genomes]
rs757788	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7803944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804264	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7811164	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9770108	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv966746	chr7:2781545-2797621	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11761804	AIMP2	cis	parietal	SCAN
rs11761804	GET4	cis	parietal	SCAN
rs11761804	C7orf50	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
3	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:2771400-2796200	Weak transcription	NHEK	skin
6	chr7:2773200-2796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:2773200-2796400	Weak transcription	NH-A	brain
8	chr7:2773200-2797000	Weak transcription	Pancreas	Pancrea
9	chr7:2773600-2796400	Weak transcription	Osteobl	bone
10	chr7:2775200-2796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:2775400-2797400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
13	chr7:2775800-2796400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:2775800-2796400	Weak transcription	HSMM	muscle
15	chr7:2776200-2797000	Weak transcription	Spleen	Spleen
16	chr7:2776800-2793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:2776800-2796200	Weak transcription	HepG2	liver
18	chr7:2777600-2796200	Weak transcription	Dnd41	blood
19	chr7:2778200-2796400	Weak transcription	Psoas Muscle	Psoas
20	chr7:2778600-2794800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:2778600-2796200	Weak transcription	Fetal Lung	lung
22	chr7:2778600-2796400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:2778800-2795800	Weak transcription	Placenta	Placenta
24	chr7:2778800-2796200	Weak transcription	NHLF	lung
25	chr7:2779000-2796600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:2779600-2796000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:2780200-2796200	Weak transcription	Fetal Stomach	stomach
28	chr7:2782800-2797000	Weak transcription	Right Ventricle	heart
29	chr7:2782800-2797200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:2783000-2795600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:2783000-2798000	Weak transcription	Lung	lung
32	chr7:2783600-2796800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:2783800-2797200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:2787400-2796200	Weak transcription	HSMMtube	muscle
35	chr7:2788400-2797400	Weak transcription	Thymus	Thymus
36	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:2790000-2793200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:2790000-2793600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:2790000-2794600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:2790000-2794600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:2790000-2795800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:2790000-2797000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:2790000-2797200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
45	chr7:2790200-2796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:2790200-2796400	Weak transcription	K562	blood
47	chr7:2790200-2796600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:2790400-2796000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:2790400-2796400	Weak transcription	Right Atrium	heart
50	chr7:2790400-2799800	Weak transcription	H9 Cell Line	embryonic stem cell

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