Variant report

Variant	rs8076808
Chromosome Location	chr17:45215536-45215537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233786	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12946597	0.80[EUR][1000 genomes]
rs1515751	0.82[EUR][1000 genomes]
rs1515752	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1634268	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1713494	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1713495	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs188799	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071438	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs221597	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221598	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs221599	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs221602	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2678694	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6504745	0.99[ASN][1000 genomes]
rs701982	0.96[ASN][1000 genomes]
rs764792	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8071382	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs858673	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs858679	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs938904	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9897015	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9905948	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3364266	chr17:45213355-45216394	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3343499	chr17:45213674-45219467	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2655194	chr17:45213766-45216342	ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3342727	chr17:45213855-45216329	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3359541	chr17:45214400-45216329	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv5454	chr17:45214556-45216243	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv962405	chr17:45214587-45218734	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3357949	chr17:45214596-45216193	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3322820	chr17:45214612-45216165	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3498554	chr17:45214622-45216138	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3498555	chr17:45214622-45216138	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3421208	chr17:45214625-45216243	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3347116	chr17:45214667-45216153	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv6742	chr17:45214674-45219295	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3441824	chr17:45215025-45216156	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3367909	chr17:45215045-45216126	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3395511	chr17:45215273-45216157	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:45214600-45215600	Strong transcription	Fetal Brain Female	brain
4	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:45214800-45215600	Weak transcription	Dnd41	blood
6	chr17:45214800-45215800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:45214800-45215800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:45214800-45215800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:45214800-45215800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:45214800-45215800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:45214800-45215800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:45214800-45215800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:45214800-45215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:45214800-45215800	Weak transcription	Primary B cells from cord blood	blood
15	chr17:45214800-45215800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:45214800-45215800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:45214800-45215800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45214800-45215800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:45214800-45215800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:45214800-45215800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:45214800-45215800	Weak transcription	Brain Anterior Caudate	brain
22	chr17:45214800-45215800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:45214800-45215800	Weak transcription	Fetal Kidney	kidney
24	chr17:45214800-45215800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:45214800-45215800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:45214800-45215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:45214800-45215800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:45214800-45215800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr17:45214800-45215800	Weak transcription	GM12878-XiMat	blood
30	chr17:45214800-45215800	Weak transcription	Hela-S3	cervix
31	chr17:45214800-45215800	Weak transcription	HSMM	muscle
32	chr17:45214800-45215800	Weak transcription	K562	blood
33	chr17:45214800-45215800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr17:45214800-45215800	Weak transcription	Osteobl	bone
35	chr17:45214800-45216000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:45214800-45216000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:45214800-45216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45214800-45216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:45214800-45216000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr17:45214800-45216000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:45214800-45216000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:45214800-45216000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:45214800-45216000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:45214800-45216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:45214800-45216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:45214800-45216000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:45214800-45216000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:45214800-45216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:45214800-45216000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:45214800-45216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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