Variant report

Variant	rs8075651
Chromosome Location	chr17:15552745-15552746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15552019..15554730-chr17:16119203..16121978,2	MCF-7	breast:
2	chr17:15551872..15554786-chr17:16116224..16118866,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108474	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1810410	1.00[EUR][1000 genomes]
rs2324041	1.00[EUR][1000 genomes]
rs4791644	1.00[EUR][1000 genomes]
rs4792684	1.00[EUR][1000 genomes]
rs7207037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7216189	1.00[AMR][1000 genomes]
rs7217399	1.00[EUR][1000 genomes]
rs7223186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064560	1.00[EUR][1000 genomes]
rs8080029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081030	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8081063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907205	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
4	chr17:15531800-15553600	Weak transcription	Fetal Kidney	kidney
5	chr17:15532400-15554000	Weak transcription	Ovary	ovary
6	chr17:15533400-15553000	Weak transcription	NHLF	lung
7	chr17:15534000-15553200	Weak transcription	Fetal Brain Female	brain
8	chr17:15534000-15553600	Weak transcription	Liver	Liver
9	chr17:15535400-15553000	Weak transcription	Colonic Mucosa	Colon
10	chr17:15544400-15554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:15544800-15553200	Weak transcription	Brain Angular Gyrus	brain
12	chr17:15549200-15553400	Weak transcription	Pancreas	Pancrea
13	chr17:15549200-15554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:15549400-15553000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:15549400-15554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:15549400-15554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:15549600-15553000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:15549600-15553200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:15549600-15553200	Weak transcription	Fetal Lung	lung
20	chr17:15549600-15553200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:15549600-15553400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:15549600-15553400	Weak transcription	Brain Anterior Caudate	brain
23	chr17:15549600-15553400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:15549600-15553600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:15549600-15554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:15549600-15554000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:15549600-15554000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:15549600-15554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:15549600-15554200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:15549600-15554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:15549600-15554400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr17:15549600-15554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:15549600-15554800	Weak transcription	GM12878-XiMat	blood
34	chr17:15550000-15554600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:15550200-15553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:15550200-15554200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:15551000-15554400	Active TSS	Esophagus	oesophagus
38	chr17:15551200-15553000	Enhancers	Lung	lung
39	chr17:15551600-15552800	Enhancers	Fetal Heart	heart
40	chr17:15551600-15553000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr17:15551600-15553000	Enhancers	HUVEC	blood vessel
42	chr17:15551600-15553200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr17:15551600-15553600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr17:15551600-15554400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr17:15551600-15555000	Active TSS	Psoas Muscle	Psoas
46	chr17:15551600-15555000	Flanking Active TSS	Hela-S3	cervix
47	chr17:15551800-15552800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr17:15551800-15553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:15551800-15553000	Enhancers	Stomach Smooth Muscle	stomach
50	chr17:15551800-15553200	Enhancers	Sigmoid Colon	Sigmoid Colon

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