Variant report

Variant	rs8073767
Chromosome Location	chr17:19567020-19567021
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	chr17:19564551..19566163-chr17:19566583..19568566,2	MCF-7	breast:
2	chr17:19565101..19568606-chr17:19573068..19575796,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252349	Chromatin interaction
ENSG00000072210	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28672208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59733667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59997043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60425436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61420595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208792	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215552	1.00[AMR][1000 genomes]
rs7225274	0.81[AFR][1000 genomes]
rs7225451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8079509	1.00[AMR][1000 genomes]
rs8080984	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv1062485	chr17:19558644-19608008	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv907865	chr17:19558722-19575721	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19553200-19577400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:19553200-19580000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:19554800-19574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:19555000-19568800	Weak transcription	NH-A	brain
5	chr17:19555000-19581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:19555000-19582800	Weak transcription	HUVEC	blood vessel
7	chr17:19555200-19569800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr17:19555200-19576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:19555400-19570000	Strong transcription	Fetal Muscle Leg	muscle
10	chr17:19555600-19567200	Weak transcription	Right Atrium	heart
11	chr17:19555600-19569800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:19555600-19578600	Weak transcription	Small Intestine	intestine
13	chr17:19556200-19569800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:19556600-19569800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:19557200-19569800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:19558200-19568200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:19558200-19569400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:19558200-19569600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:19558200-19569800	Strong transcription	Fetal Intestine Large	intestine
20	chr17:19558400-19567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:19558400-19571800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:19558400-19579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:19558600-19569800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:19559200-19571800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:19559200-19574200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:19559400-19575000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:19559400-19575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:19559600-19570800	Strong transcription	Brain Anterior Caudate	brain
29	chr17:19559600-19578600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:19559800-19577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:19560800-19567400	Weak transcription	Placenta	Placenta
32	chr17:19561200-19570600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr17:19561400-19569800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr17:19563200-19567200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:19563200-19567400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr17:19563400-19568800	Strong transcription	Primary T cells from cord blood	blood
37	chr17:19563400-19569800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:19563400-19569800	Strong transcription	Fetal Brain Female	brain
39	chr17:19563400-19569800	Strong transcription	Fetal Lung	lung
40	chr17:19563600-19567400	Genic enhancers	Liver	Liver
41	chr17:19563600-19568800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:19563600-19569200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:19563600-19569800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:19564000-19569400	Strong transcription	HSMMtube	muscle
45	chr17:19564000-19581000	Weak transcription	Thymus	Thymus
46	chr17:19564200-19569800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr17:19564200-19569800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:19564400-19571000	Strong transcription	A549	lung
49	chr17:19564600-19569200	Genic enhancers	HepG2	liver
50	chr17:19564600-19569600	Strong transcription	Rectal Mucosa Donor 29	rectum

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