Variant report

Variant	rs111690166
Chromosome Location	chr17:20945232-20945233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20943721..20945424-chr17:21006912..21008982,2	K562	blood:
2	chr17:20944673..20948329-chr17:21154326..21157645,3	K562	blood:
3	chr17:20943445..20945736-chr17:21186305..21189168,3	K562	blood:
4	chr17:20923323..20925346-chr17:20944193..20946472,2	MCF-7	breast:
5	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
6	chr17:20945209..20948329-chr17:21154326..21158276,3	K562	blood:
7	chr17:20945081..20946975-chr17:20977451..20979833,2	MCF-7	breast:
8	chr17:20944286..20948317-chr17:21114820..21119740,4	K562	blood:
9	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
10	chr17:20944908..20949288-chr17:21027831..21032603,8	MCF-7	breast:
11	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109016	Chromatin interaction
ENSG00000235530	Chromatin interaction
ENSG00000124422	Chromatin interaction
ENSG00000034152	Chromatin interaction
ENSG00000154035	Chromatin interaction
ENSG00000236819	Chromatin interaction
ENSG00000178307	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	esv3398246	chr17:20944985-20947533	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv15620	chr17:20945133-20947213	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20942800-20945600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:20943400-20945800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:20943400-20947200	Active TSS	Aorta	Aorta
9	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
10	chr17:20943400-20947200	Active TSS	Ovary	ovary
11	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood
12	chr17:20943400-20947200	Active TSS	NHDF-Ad	bronchial
13	chr17:20943400-20947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:20943400-20947400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr17:20943600-20945400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr17:20943600-20947000	Active TSS	Colonic Mucosa	Colon
17	chr17:20943600-20947200	Active TSS	HSMMtube	muscle
18	chr17:20943600-20947600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:20943600-20947800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr17:20943600-20947800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr17:20943800-20945800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr17:20943800-20945800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:20943800-20946800	Active TSS	HMEC	breast
24	chr17:20943800-20947000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:20943800-20947000	Active TSS	HSMM	muscle
26	chr17:20943800-20947000	Active TSS	NH-A	brain
27	chr17:20943800-20947200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:20943800-20947200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr17:20943800-20947200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:20943800-20947200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:20943800-20947200	Active TSS	Fetal Brain Female	brain
32	chr17:20943800-20947200	Active TSS	Fetal Intestine Small	intestine
33	chr17:20943800-20947200	Active TSS	Fetal Kidney	kidney
34	chr17:20943800-20947200	Active TSS	Psoas Muscle	Psoas
35	chr17:20943800-20947200	Active TSS	Stomach Smooth Muscle	stomach
36	chr17:20943800-20947200	Active TSS	NHLF	lung
37	chr17:20943800-20947400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr17:20943800-20947400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:20943800-20947400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr17:20943800-20947600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr17:20944000-20945400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:20944000-20947000	Active TSS	Small Intestine	intestine
43	chr17:20944000-20947200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:20944000-20947200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:20944000-20947200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr17:20944000-20947200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:20944000-20947200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr17:20944000-20947200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr17:20944000-20947200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr17:20944000-20947200	Active TSS	Pancreas	Pancrea

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