Variant report

Variant	rs552137200
Chromosome Location	chr17:20118970-20118971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20109966..20112285-chr17:20118187..20119843,2	MCF-7	breast:
2	chr17:20113360..20115266-chr17:20118185..20120021,2	K562	blood:
3	chr17:20114496..20116993-chr17:20117575..20120257,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1057870	chr17:20079146-20121848	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
16	nsv1065363	chr17:20118499-20162888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1059774	chr17:20118499-20163560	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20104000-20119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20104200-20120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:20105000-20119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:20106600-20119600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:20106800-20130200	Weak transcription	Fetal Stomach	stomach
6	chr17:20106800-20131400	Weak transcription	Fetal Intestine Large	intestine
7	chr17:20107000-20121200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:20107400-20119800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:20107600-20131600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:20108000-20120200	Weak transcription	GM12878-XiMat	blood
11	chr17:20108000-20130200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:20108000-20130200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:20108400-20119200	Weak transcription	Brain Germinal Matrix	brain
14	chr17:20108400-20131400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:20109600-20119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:20109600-20135200	Weak transcription	Gastric	stomach
17	chr17:20110400-20119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:20110600-20119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:20110600-20120600	Weak transcription	Primary T cells from cord blood	blood
20	chr17:20110800-20130400	Weak transcription	HSMMtube	muscle
21	chr17:20111600-20127400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
23	chr17:20112000-20119600	Weak transcription	K562	blood
24	chr17:20112000-20130200	Weak transcription	NH-A	brain
25	chr17:20112200-20127000	Weak transcription	NHEK	skin
26	chr17:20115400-20119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:20115400-20119800	Weak transcription	HSMM	muscle
28	chr17:20115400-20135000	Weak transcription	Fetal Intestine Small	intestine
29	chr17:20115600-20119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:20115600-20127200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:20115600-20127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:20115600-20131600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:20115600-20132800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:20115800-20119200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:20115800-20127000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:20115800-20127200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:20115800-20131400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:20116000-20119400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:20116000-20121200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:20116000-20130200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:20116800-20119200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:20117000-20130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:20117200-20119600	Weak transcription	Hela-S3	cervix
44	chr17:20117200-20131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:20117400-20119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr17:20117800-20123000	Enhancers	Brain Cingulate Gyrus	brain
47	chr17:20118000-20119200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr17:20118000-20119400	Enhancers	A549	lung
49	chr17:20118000-20120600	Enhancers	Brain Hippocampus Middle	brain
50	chr17:20118000-20122000	Enhancers	Brain Angular Gyrus	brain

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