Variant report

Variant	rs4713880
Chromosome Location	chr6:35490803-35490804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35487540..35490871-chr6:35654917..35657662,3	MCF-7	breast:
2	chr6:35490393..35491197-chr6:35551212..35551959,2	MCF-7	breast:
3	chr6:35478821..35481224-chr6:35489312..35491661,2	K562	blood:
4	chr6:35490502..35491010-chr6:35519931..35520659,2	K562	blood:
5	chr6:35490348..35490950-chr6:35703637..35704378,2	MCF-7	breast:
6	chr6:35489138..35492526-chr6:35702598..35706407,3	K562	blood:
7	chr6:35490197..35491331-chr6:35703653..35706040,22	K562	blood:
8	chr6:35490258..35491216-chr6:35704176..35705791,7	MCF-7	breast:
9	chr6:35463713..35467638-chr6:35488845..35491546,5	K562	blood:
10	chr6:35490356..35491291-chr6:35519797..35520709,4	MCF-7	breast:
11	chr6:35490540..35491130-chr6:35705031..35706454,3	MCF-7	breast:
12	chr6:35464491..35467638-chr6:35489689..35492703,3	K562	blood:
13	chr6:35490017..35491636-chr6:35703434..35704990,2	MCF-7	breast:
14	chr6:35489591..35492334-chr6:35495143..35497651,2	MCF-7	breast:
15	chr6:35490242..35491081-chr6:35725037..35725942,4	K562	blood:
16	chr6:35490359..35491197-chr6:35519826..35520699,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157343	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000112041	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1076655	0.90[JPT][hapmap]
rs11756089	0.90[JPT][hapmap]
rs12110645	0.93[ASN][1000 genomes]
rs1475774	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2076171	0.90[JPT][hapmap]
rs2092427	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2273002	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3807048	0.90[ASN][1000 genomes]
rs4711418	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4711419	0.93[ASN][1000 genomes]
rs4711421	0.90[ASN][1000 genomes]
rs4711422	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4713871	0.90[JPT][hapmap]
rs4713875	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4713877	0.93[ASN][1000 genomes]
rs4713878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4713883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4713889	0.90[ASN][1000 genomes]
rs4713901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4713908	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6903200	0.93[ASN][1000 genomes]
rs73746446	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
3	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1028302	chr6:35480914-35542591	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv538197	chr6:35480914-35542591	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1024680	chr6:35480914-35555596	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538198	chr6:35480914-35555596	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1032973	chr6:35481880-35564799	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35490000-35491000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35490000-35491000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:35490000-35491000	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr6:35490000-35491200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:35490000-35491800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:35490200-35491000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:35490200-35491000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr6:35490200-35491000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr6:35490200-35491000	Enhancers	K562	blood
10	chr6:35490200-35491800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:35490200-35491800	Enhancers	Fetal Thymus	thymus
12	chr6:35490400-35491000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:35490400-35491000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:35490400-35491000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:35490400-35491000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:35490400-35491000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:35490400-35491000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:35490400-35491000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:35490400-35491000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:35490400-35491000	Active TSS	Colonic Mucosa	Colon
21	chr6:35490400-35491000	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:35490400-35491000	Enhancers	Fetal Heart	heart
23	chr6:35490400-35491000	Enhancers	Pancreas	Pancrea
24	chr6:35490400-35491000	Enhancers	Stomach Mucosa	stomach
25	chr6:35490400-35491000	Enhancers	Spleen	Spleen
26	chr6:35490400-35491000	Flanking Active TSS	Dnd41	blood
27	chr6:35490400-35491000	Enhancers	HMEC	breast
28	chr6:35490400-35491000	Active TSS	NHDF-Ad	bronchial
29	chr6:35490400-35491200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr6:35490400-35491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:35490400-35491200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr6:35490400-35491200	Enhancers	Liver	Liver
33	chr6:35490400-35491200	Enhancers	Fetal Stomach	stomach
34	chr6:35490400-35491200	Active TSS	Osteobl	bone
35	chr6:35490400-35491400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:35490400-35491800	Enhancers	Placenta	Placenta
37	chr6:35490600-35491000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:35490600-35491000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:35490600-35491000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:35490600-35491000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:35490600-35491000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:35490600-35491000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:35490600-35491000	Active TSS	Colon Smooth Muscle	Colon
44	chr6:35490600-35491000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr6:35490600-35491000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:35490600-35491000	Flanking Active TSS	Hela-S3	cervix
47	chr6:35490600-35491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:35490600-35491200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:35490600-35491200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:35490600-35491200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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