Variant report

Variant	rs2496155
Chromosome Location	chr6:13315298-13315299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13310952..13313118-chr6:13315206..13317513,2	K562	blood:
2	chr6:13315003..13316712-chr6:13317056..13320082,3	K562	blood:
3	chr6:13232923..13234560-chr6:13313162..13315905,2	K562	blood:
4	chr6:13314962..13317954-chr6:13328559..13330250,2	K562	blood:
5	chr6:13312615..13316148-chr6:13327198..13329955,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12203576	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1899262	0.91[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs202020	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439538	0.87[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2439546	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2496141	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2496143	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs364884	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs381134	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846903	0.82[JPT][hapmap]
rs408639	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs408923	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs446843	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs546520	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs570338	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs629262	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs629728	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs641293	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641688	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6910418	0.92[YRI][hapmap];0.80[AMR][1000 genomes]
rs7774863	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs878698	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9381915	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9473896	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:13298200-13326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:13299600-13326600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:13299800-13326400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:13300200-13327000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:13301200-13325400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:13303400-13315800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:13303800-13315800	Weak transcription	HMEC	breast
14	chr6:13303800-13327800	Weak transcription	Stomach Mucosa	stomach
15	chr6:13304400-13316800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:13304400-13327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:13304600-13325600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:13304600-13326200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:13304800-13315800	Weak transcription	Colonic Mucosa	Colon
20	chr6:13304800-13315800	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:13305200-13316400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:13305200-13325800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr6:13305400-13315800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:13305400-13315800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:13305400-13326200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:13305800-13315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:13305800-13315800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:13305800-13316000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:13305800-13319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:13305800-13326200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:13307200-13326200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:13307400-13326400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:13308200-13316000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:13308600-13315400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:13308600-13326400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:13308600-13326400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:13308800-13315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:13308800-13316000	Weak transcription	Gastric	stomach
39	chr6:13309000-13315600	Weak transcription	Psoas Muscle	Psoas
40	chr6:13309000-13320200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:13309000-13325800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:13309200-13315400	Weak transcription	Fetal Kidney	kidney
43	chr6:13309200-13319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:13309400-13326400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:13309600-13318400	Weak transcription	Fetal Heart	heart
46	chr6:13310200-13325600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:13310200-13326400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:13310400-13316000	Weak transcription	HSMM	muscle
49	chr6:13310600-13319200	Weak transcription	A549	lung
50	chr6:13311200-13325800	Strong transcription	Primary monocytes fromperipheralblood	blood

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