Variant report

Variant	rs17187847
Chromosome Location	chr6:30065202-30065203
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30059482..30063646-chr6:30064744..30071169,8	MCF-7	breast:
2	chr6:30036068..30037732-chr6:30063349..30066200,2	MCF-7	breast:
3	chr6:30033726..30035867-chr6:30063166..30065210,2	MCF-7	breast:
4	chr6:30031856..30036259-chr6:30064937..30071315,10	MCF-7	breast:
5	chr6:30027914..30030220-chr6:30065122..30067982,3	MCF-7	breast:
6	chr6:30039555..30048654-chr6:30056865..30065735,15	MCF-7	breast:
7	chr6:30063791..30066840-chr6:30067476..30070156,3	MCF-7	breast:
8	chr6:30053423..30056076-chr6:30062128..30065252,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066379	Chromatin interaction
ENSG00000204618	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17180528	1.00[EUR][1000 genomes]
rs17186951	1.00[EUR][1000 genomes]
rs17187553	1.00[EUR][1000 genomes]
rs17187658	1.00[EUR][1000 genomes]
rs17187826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713289	1.00[EUR][1000 genomes]
rs4959042	1.00[EUR][1000 genomes]
rs56908820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60471614	1.00[ASN][1000 genomes]
rs6906435	1.00[ASN][1000 genomes]
rs6917420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv884051	chr6:30059451-30071279	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv884050	chr6:30059451-30071330	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv884052	chr6:30059592-30067681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv884053	chr6:30059592-30070538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv884054	chr6:30061361-30069525	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30060200-30065600	Weak transcription	Spleen	Spleen
2	chr6:30061000-30066800	Enhancers	Stomach Mucosa	stomach
3	chr6:30062000-30067000	Enhancers	Fetal Intestine Small	intestine
4	chr6:30062200-30067800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:30063400-30068400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30063600-30065800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:30063600-30068200	Weak transcription	HMEC	breast
8	chr6:30063800-30065400	Weak transcription	NHEK	skin
9	chr6:30063800-30068000	Weak transcription	Lung	lung
10	chr6:30064000-30068000	Enhancers	HepG2	liver
11	chr6:30064400-30067000	Enhancers	Primary T cells from cord blood	blood
12	chr6:30064800-30065400	Enhancers	Gastric	stomach
13	chr6:30064800-30066800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30064800-30067200	Enhancers	K562	blood
15	chr6:30064800-30068400	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr6:30064800-30069600	Bivalent Enhancer	Fetal Thymus	thymus
17	chr6:30065000-30066600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr6:30065200-30065400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:30065200-30065400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:30065200-30065400	Enhancers	Esophagus	oesophagus
21	chr6:30065200-30066400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:30065200-30066600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:30065200-30066600	Enhancers	Rectal Mucosa Donor 31	rectum

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