Variant report

Variant	rs6866923
Chromosome Location	chr5:90669352-90669353
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	chr5:90658853..90660628-chr5:90666227..90669602,3	MCF-7	breast:
2	chr5:90609791..90613058-chr5:90669226..90672505,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271762	Chromatin interaction
ENSG00000248323	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10041402	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10045280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10052492	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10054820	0.91[EUR][1000 genomes]
rs10058025	0.94[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs10059163	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10063683	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs10073657	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073935	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1035476	0.90[EUR][1000 genomes]
rs1035477	0.91[EUR][1000 genomes]
rs10474352	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10474353	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10942634	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948056	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11948075	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11950530	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs11955120	0.90[EUR][1000 genomes]
rs11959525	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs12110065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12110303	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12188467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12651840	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12654787	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs12655973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12656350	0.91[EUR][1000 genomes]
rs1363839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477348	0.94[EUR][1000 genomes]
rs1477349	0.94[EUR][1000 genomes]
rs186717	0.83[EUR][1000 genomes]
rs1895448	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1895449	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1964292	0.89[EUR][1000 genomes]
rs1966494	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2004483	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2052553	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059208	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367353	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2367526	0.89[EUR][1000 genomes]
rs2839728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2887007	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332529	0.81[AMR][1000 genomes]
rs332531	0.81[AMR][1000 genomes]
rs332544	0.83[EUR][1000 genomes]
rs35712350	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4382199	0.91[EUR][1000 genomes]
rs60513756	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6452951	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6452953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6452954	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66759971	0.90[EUR][1000 genomes]
rs6860948	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6865495	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6866191	0.91[EUR][1000 genomes]
rs6867091	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6869048	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869717	0.94[EUR][1000 genomes]
rs6882269	0.92[EUR][1000 genomes]
rs746637	0.94[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7705465	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7708782	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes]
rs7715402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7718871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720132	0.94[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs7720235	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs889213	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9293568	0.91[EUR][1000 genomes]
rs9686361	0.91[EUR][1000 genomes]
rs985434	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes]

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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90653400-90670400	Weak transcription	Right Atrium	heart
2	chr5:90653600-90669400	Weak transcription	Small Intestine	intestine
3	chr5:90659000-90669400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:90660000-90669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:90661600-90669400	Weak transcription	Esophagus	oesophagus
6	chr5:90662400-90673000	Strong transcription	Fetal Intestine Large	intestine
7	chr5:90662800-90672400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:90663000-90670400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:90663000-90671600	Strong transcription	Fetal Muscle Leg	muscle
10	chr5:90663000-90672400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:90663000-90672400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr5:90663000-90672800	Strong transcription	Adipose Nuclei	Adipose
13	chr5:90663000-90673400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:90663000-90673600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:90663000-90674200	Strong transcription	NH-A	brain
16	chr5:90663000-90674400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:90663000-90674400	Strong transcription	Placenta	Placenta
18	chr5:90663000-90674400	Strong transcription	Fetal Thymus	thymus
19	chr5:90663000-90674600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:90663200-90671200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:90663200-90671200	Strong transcription	NHLF	lung
22	chr5:90663200-90671400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:90663200-90671400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:90663200-90671600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:90663200-90672400	Strong transcription	Osteobl	bone
26	chr5:90663200-90672600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:90663200-90673000	Strong transcription	Primary B cells from cord blood	blood
28	chr5:90663200-90673000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:90663200-90673800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:90663200-90674000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:90663400-90670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:90663400-90673200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr5:90663400-90673800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:90663400-90674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:90663400-90674400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:90663400-90674400	Strong transcription	HSMM	muscle
37	chr5:90663600-90672600	Strong transcription	HSMMtube	muscle
38	chr5:90663800-90673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:90663800-90673000	Strong transcription	HMEC	breast
40	chr5:90663800-90673400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:90663800-90674200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:90663800-90674400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:90663800-90674400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:90663800-90674600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:90664000-90670400	Strong transcription	Left Ventricle	heart
46	chr5:90664000-90671000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:90664000-90673600	Strong transcription	K562	blood
48	chr5:90664000-90673800	Strong transcription	Dnd41	blood
49	chr5:90664000-90673800	Strong transcription	GM12878-XiMat	blood
50	chr5:90664400-90669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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