Variant report

Variant	rs765724
Chromosome Location	chr6:45417118-45417119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45415340..45418942-chr6:45422164..45424791,5	K562	blood:
2	chr6:45416242..45417772-chr6:45424221..45426161,2	MCF-7	breast:
3	chr6:45409836..45411683-chr6:45415298..45417757,2	K562	blood:
4	chr6:45412401..45414815-chr6:45415090..45418058,3	K562	blood:
5	chr6:45415640..45418079-chr6:45419010..45422483,4	MCF-7	breast:
6	chr6:45416687..45419671-chr6:45507233..45509746,2	K562	blood:
7	chr6:45344177..45348784-chr6:45412133..45417901,7	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10214519	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12197948	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12210100	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12215249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1317777	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13208741	1.00[JPT][hapmap]
rs1343799	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1934327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2252718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2256819	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2396442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2677098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677100	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677109	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2677110	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2790093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790095	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790097	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790098	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2790099	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2790100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790102	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2790103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819852	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819853	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819861	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819864	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2819865	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2819866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819867	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2820339	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2820340	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711816	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4714854	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6458443	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7756144	0.90[EUR][1000 genomes]
rs910586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9885645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:45405200-45417200	Weak transcription	Spleen	Spleen
3	chr6:45405600-45417400	Genic enhancers	Dnd41	blood
4	chr6:45407200-45418200	Weak transcription	Gastric	stomach
5	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:45412400-45417600	Genic enhancers	Osteobl	bone
7	chr6:45412600-45417200	Enhancers	Adipose Nuclei	Adipose
8	chr6:45413400-45417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:45413400-45423400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:45413800-45418000	Weak transcription	Primary T cells from cord blood	blood
11	chr6:45413800-45418000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:45414000-45417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:45414000-45417400	Genic enhancers	HSMM	muscle
14	chr6:45414000-45421400	Weak transcription	Esophagus	oesophagus
15	chr6:45414000-45431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:45414200-45417400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:45414200-45417400	Enhancers	NHDF-Ad	bronchial
18	chr6:45414200-45417400	Enhancers	NHLF	lung
19	chr6:45414200-45417600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:45414200-45417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:45414200-45418000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:45414200-45418000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:45414200-45419000	Enhancers	K562	blood
24	chr6:45414400-45420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:45414600-45417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:45414800-45418200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:45415000-45421000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:45415000-45421800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:45415200-45421800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:45415200-45421800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:45415200-45422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:45415200-45422200	Weak transcription	HMEC	breast
33	chr6:45415600-45417400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:45415600-45419200	Enhancers	Fetal Thymus	thymus
35	chr6:45415600-45424600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:45415800-45419000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr6:45415800-45420000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:45415800-45421800	Weak transcription	NHEK	skin
39	chr6:45416000-45417400	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr6:45416000-45417800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:45416000-45420800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:45416000-45421800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:45416200-45417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:45416200-45417400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:45416200-45417600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:45416200-45420000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:45416200-45421800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:45416400-45417400	Bivalent Enhancer	Thymus	Thymus
49	chr6:45416400-45417800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:45416400-45419400	Weak transcription	Colonic Mucosa	Colon

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