Variant report

Variant	rs11948511
Chromosome Location	chr5:93286601-93286602
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93286448..93288914-chr5:93446227..93448641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113391	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10044641	0.86[ASN][1000 genomes]
rs10057664	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs10061069	0.87[ASN][1000 genomes]
rs1026279	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1031423	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866760	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11135394	0.94[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs11135397	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs11135401	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12054831	0.83[CEU][hapmap]
rs12653528	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs13165221	0.82[ASN][1000 genomes]
rs13167027	0.87[ASN][1000 genomes]
rs13184801	0.82[ASN][1000 genomes]
rs13186432	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1349711	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1453003	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs17083377	0.83[CEU][hapmap]
rs17083380	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs1901736	0.83[CEU][hapmap]
rs1982439	0.83[CEU][hapmap]
rs2043979	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2045019	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs2045020	0.83[CEU][hapmap];0.90[TSI][hapmap]
rs2045021	0.83[CEU][hapmap]
rs2084916	0.83[CEU][hapmap]
rs2924374	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs35672980	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60375544	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6556833	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6556834	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs6556838	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs6556839	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs6869110	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6879620	0.83[CEU][hapmap]
rs6881815	0.83[CEU][hapmap]
rs7708175	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7713956	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs7721668	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7727923	0.86[ASN][1000 genomes]
rs7728825	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7732578	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs7733142	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7735009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7736892	0.83[CEU][hapmap]
rs890738	0.88[ASN][1000 genomes]
rs896729	0.83[CEU][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93257200-93287400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93263200-93289200	Weak transcription	Ovary	ovary
4	chr5:93263200-93326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:93263400-93303800	Weak transcription	HSMMtube	muscle
6	chr5:93268800-93289800	Weak transcription	Fetal Intestine Large	intestine
7	chr5:93270600-93289000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:93270600-93289800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:93272400-93289400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:93277000-93289200	Weak transcription	Aorta	Aorta
11	chr5:93277800-93290000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:93278000-93304800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:93279400-93289200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:93279400-93292000	Weak transcription	Right Ventricle	heart
15	chr5:93281600-93300200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:93282000-93289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:93282000-93291400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:93282200-93309600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:93282600-93294000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:93282800-93312000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:93283000-93289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:93283000-93289800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:93283000-93290000	Weak transcription	Dnd41	blood
24	chr5:93283000-93299000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:93284400-93292200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:93284400-93300200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:93284600-93297600	Weak transcription	Fetal Thymus	thymus
28	chr5:93284800-93288600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:93284800-93288800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:93284800-93289000	Weak transcription	Fetal Stomach	stomach
31	chr5:93284800-93292400	Weak transcription	Thymus	Thymus
32	chr5:93284800-93306400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:93285000-93289000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:93285000-93289000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:93286000-93289000	Weak transcription	Fetal Lung	lung
36	chr5:93286000-93290200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:93286200-93289400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:93286400-93287400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:93286400-93289200	Weak transcription	Fetal Intestine Small	intestine
40	chr5:93286400-93289600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:93286400-93289800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:93286600-93290200	Weak transcription	Pancreas	Pancrea

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