Variant report

Variant	rs11870578
Chromosome Location	chr17:20076683-20076684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20069675..20071454-chr17:20074392..20077634,3	MCF-7	breast:
2	chr17:20057951..20061755-chr17:20075070..20081270,10	MCF-7	breast:
3	chr17:20063491..20068167-chr17:20071822..20078082,7	MCF-7	breast:
4	chr17:20076421..20078642-chr17:20093873..20095852,2	K562	blood:
5	chr17:20075874..20079142-chr17:20086103..20089019,5	MCF-7	breast:
6	chr17:19881156..19883404-chr17:20076663..20078909,2	MCF-7	breast:
7	chr17:20074412..20077021-chr17:20078655..20080833,2	K562	blood:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction
ENSG00000108599	Chromatin interaction
ENSG00000263494	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11867646	1.00[EUR][1000 genomes]
rs11867652	1.00[EUR][1000 genomes]
rs11868146	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870381	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870673	1.00[EUR][1000 genomes]
rs28831144	0.85[EUR][1000 genomes]
rs58664968	0.94[EUR][1000 genomes]
rs60496867	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7219688	1.00[EUR][1000 genomes]
rs7223984	1.00[EUR][1000 genomes]
rs73981864	0.94[EUR][1000 genomes]
rs73981899	0.94[EUR][1000 genomes]
rs8066705	1.00[EUR][1000 genomes]
rs8074791	1.00[EUR][1000 genomes]
rs8078442	0.87[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9892080	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9899251	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913312	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]

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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20060400-20079400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20060800-20092200	Weak transcription	Fetal Intestine Small	intestine
3	chr17:20061600-20080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:20062000-20090400	Weak transcription	Aorta	Aorta
5	chr17:20073200-20077000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:20073200-20079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:20073200-20079200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:20073200-20079400	Enhancers	Brain Substantia Nigra	brain
9	chr17:20073200-20080600	Enhancers	Brain Hippocampus Middle	brain
10	chr17:20073400-20077000	Enhancers	Brain Angular Gyrus	brain
11	chr17:20073400-20077000	Enhancers	Brain Anterior Caudate	brain
12	chr17:20073400-20077000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr17:20073400-20077600	Enhancers	Osteobl	bone
14	chr17:20073400-20078000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr17:20073400-20079400	Enhancers	Brain Cingulate Gyrus	brain
16	chr17:20073400-20080400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr17:20073600-20077400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:20073600-20077600	Enhancers	Hela-S3	cervix
19	chr17:20073600-20078200	Weak transcription	Left Ventricle	heart
20	chr17:20073800-20078600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:20074200-20077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:20074400-20077000	Enhancers	Fetal Heart	heart
23	chr17:20074600-20077000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:20074800-20078400	Enhancers	HMEC	breast
25	chr17:20074800-20080400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:20075000-20078000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr17:20075000-20078000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:20075000-20078600	Enhancers	Ovary	ovary
29	chr17:20075000-20080400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr17:20075200-20077000	Enhancers	K562	blood
31	chr17:20075200-20077200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr17:20075200-20077200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr17:20075200-20077400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:20075200-20078400	Enhancers	HSMMtube	muscle
35	chr17:20075200-20078600	Enhancers	NH-A	brain
36	chr17:20075200-20079200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:20075200-20080200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr17:20075200-20080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr17:20075200-20080400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr17:20075200-20080800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr17:20075400-20077200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:20075400-20078400	Enhancers	A549	lung
43	chr17:20075600-20076800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:20075600-20077200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr17:20075800-20077200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:20075800-20090800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:20076000-20076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:20076000-20076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:20076000-20077800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:20076000-20077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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