Variant report

Variant	rs570231615
Chromosome Location	chr17:20073235-20073236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20061838..20064819-chr17:20072515..20074758,3	MCF-7	breast:
2	chr17:20063491..20068167-chr17:20071822..20078082,7	MCF-7	breast:
3	chr17:20025057..20027504-chr17:20071007..20074000,2	MCF-7	breast:
4	chr17:20071385..20073993-chr17:20080012..20082353,2	MCF-7	breast:
5	chr17:20058253..20060124-chr17:20070865..20073313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20060400-20079400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20060600-20075400	Weak transcription	A549	lung
3	chr17:20060600-20076400	Weak transcription	HSMM	muscle
4	chr17:20060800-20075000	Weak transcription	NHEK	skin
5	chr17:20060800-20092200	Weak transcription	Fetal Intestine Small	intestine
6	chr17:20061000-20075200	Weak transcription	NH-A	brain
7	chr17:20061400-20073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:20061400-20075200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:20061600-20080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:20061800-20075400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:20062000-20074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:20062000-20074800	Weak transcription	HMEC	breast
13	chr17:20062000-20090400	Weak transcription	Aorta	Aorta
14	chr17:20062200-20073400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:20062200-20075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:20062200-20075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:20063000-20073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:20063400-20073400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:20063400-20075200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:20063400-20075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:20063600-20073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:20063600-20075200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:20063800-20073400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:20063800-20073400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:20063800-20074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:20063800-20075000	Weak transcription	Ovary	ovary
27	chr17:20067800-20073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:20068200-20073400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:20068600-20075200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:20068800-20075200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr17:20069000-20073400	Weak transcription	Brain Anterior Caudate	brain
32	chr17:20069200-20075000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:20070800-20073400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr17:20071000-20073400	Weak transcription	Brain Angular Gyrus	brain
35	chr17:20073000-20073600	Enhancers	Spleen	Spleen
36	chr17:20073000-20074000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:20073000-20074000	Enhancers	Gastric	stomach
38	chr17:20073200-20073400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:20073200-20073400	Weak transcription	Left Ventricle	heart
40	chr17:20073200-20073600	Genic enhancers	Hela-S3	cervix
41	chr17:20073200-20075800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:20073200-20077000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr17:20073200-20079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:20073200-20079200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:20073200-20079400	Enhancers	Brain Substantia Nigra	brain
46	chr17:20073200-20080600	Enhancers	Brain Hippocampus Middle	brain

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