Variant report

Variant	rs11763588
Chromosome Location	chr7:111974516-111974517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111972425..111975420-chr7:111977051..111978873,2	MCF-7	breast:
2	chr7:111844409..111846914-chr7:111973662..111975905,2	MCF-7	breast:
3	chr7:111973804..111975570-chr7:111977342..111979995,2	K562	blood:
4	chr7:111965666..111967562-chr7:111973508..111976479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10226284	0.81[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10238141	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10247876	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10266365	0.81[CEU][hapmap]
rs10272126	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10272188	0.90[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953708	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs10953709	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760599	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11761567	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761807	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11763356	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763768	0.89[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768608	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs11768793	0.80[EUR][1000 genomes]
rs11768891	0.80[EUR][1000 genomes]
rs11769219	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773393	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12666261	0.80[EUR][1000 genomes]
rs12666328	0.87[ASN][1000 genomes]
rs12673259	0.82[CEU][hapmap]
rs12673830	0.80[EUR][1000 genomes]
rs13230061	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16873374	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs17159389	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17159446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985929	0.88[EUR][1000 genomes]
rs2107117	0.82[CHD][hapmap]
rs2301725	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520473	0.89[CEU][hapmap]
rs2520475	0.85[MEX][hapmap]
rs2523035	0.83[EUR][1000 genomes]
rs2708588	1.00[ASW][hapmap];0.95[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2708592	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs2708597	0.89[CEU][hapmap]
rs2708603	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2708605	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3109114	0.86[GIH][hapmap]
rs3807884	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs3823515	0.81[CEU][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3948719	0.82[CHD][hapmap]
rs41281063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4464880	1.00[CEU][hapmap]
rs4730520	0.81[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs55662318	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55915049	0.80[EUR][1000 genomes]
rs56299150	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675883	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56969420	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60445595	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949164	0.81[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6955231	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955623	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966390	0.81[CEU][hapmap]
rs6974364	0.80[CEU][hapmap]
rs6978927	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];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757196	1.00[CEU][hapmap]
rs7781245	0.81[CEU][hapmap]
rs7795336	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9641480	1.00[JPT][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11763588	C7orf53	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
3	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
5	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
8	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
13	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
16	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
18	chr7:111961800-111986000	Weak transcription	K562	blood
19	chr7:111962000-111978800	Weak transcription	HSMM	muscle
20	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
23	chr7:111963200-111976400	Weak transcription	Fetal Heart	heart
24	chr7:111963600-111976000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:111963600-111980200	Weak transcription	A549	lung
26	chr7:111963600-111980800	Weak transcription	NHEK	skin
27	chr7:111963800-111977400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:111963800-111984400	Weak transcription	HMEC	breast
29	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:111965400-111980000	Weak transcription	Brain Substantia Nigra	brain
31	chr7:111965600-111980200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:111965800-111977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:111965800-111978200	Weak transcription	Left Ventricle	heart
34	chr7:111965800-111980200	Weak transcription	Placenta	Placenta
35	chr7:111965800-111981800	Weak transcription	Colonic Mucosa	Colon
36	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
38	chr7:111966000-111977800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:111966000-111981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:111966000-111983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
42	chr7:111966000-111989600	Weak transcription	Gastric	stomach
43	chr7:111966400-111975000	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:111966400-111977400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:111966400-111977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:111966400-111977800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:111966400-111981000	Weak transcription	Ovary	ovary
48	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
49	chr7:111966600-111977400	Weak transcription	Lung	lung
50	chr7:111966600-111977800	Weak transcription	Stomach Smooth Muscle	stomach

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