Variant report

Variant	rs2517567
Chromosome Location	chr6:30588115-30588116
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
2	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
3	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
4	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
5	chr6:30587751..30589384-chr6:30599492..30601631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272540	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000228415	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1264422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30586200-30588800	Weak transcription	Small Intestine	intestine
2	chr6:30586400-30590000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30586400-30592000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:30586400-30592600	Weak transcription	Aorta	Aorta
5	chr6:30586400-30594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:30586600-30588600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:30586600-30590000	Weak transcription	Colonic Mucosa	Colon
9	chr6:30586600-30590000	Weak transcription	Right Ventricle	heart
10	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
11	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:30586800-30588200	Weak transcription	HMEC	breast
13	chr6:30586800-30590000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:30586800-30590000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:30586800-30590200	Weak transcription	HUVEC	blood vessel
16	chr6:30586800-30590400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:30587000-30589000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:30587000-30589400	Strong transcription	HSMM	muscle
20	chr6:30587000-30589600	Weak transcription	Fetal Brain Male	brain
21	chr6:30587000-30591400	Strong transcription	NHDF-Ad	bronchial
22	chr6:30587000-30593600	Strong transcription	Fetal Muscle Leg	muscle
23	chr6:30587000-30594000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:30587000-30594000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:30587000-30594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:30587000-30594000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:30587000-30594000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:30587000-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:30587000-30594200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:30587000-30594200	Strong transcription	Osteobl	bone
31	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:30587200-30589400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:30587200-30590800	Strong transcription	NHEK	skin
34	chr6:30587200-30591000	Strong transcription	Fetal Kidney	kidney
35	chr6:30587200-30592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:30587200-30593400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:30587200-30593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:30587200-30593800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:30587200-30593800	Strong transcription	HSMMtube	muscle
40	chr6:30587200-30594000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:30587200-30594000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:30587200-30594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:30587200-30594000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:30587200-30594000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:30587200-30594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:30587200-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:30587200-30594000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:30587200-30594000	Strong transcription	Brain Angular Gyrus	brain
49	chr6:30587200-30594000	Strong transcription	Brain Anterior Caudate	brain
50	chr6:30587200-30594000	Strong transcription	Brain Cingulate Gyrus	brain

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