Variant report

Variant	rs72831921
Chromosome Location	chr17:18129770-18129771
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
3	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
4	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
5	chr17:18128609..18130304-chr17:18157638..18159883,2	K562	blood:
6	chr17:18127264..18129965-chr17:18170745..18172525,2	K562	blood:
7	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
8	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
9	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
10	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
11	chr17:18127210..18129786-chr17:18153749..18156676,2	MCF-7	breast:
12	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
13	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091542	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000266677	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000260647	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	esv3440348	chr17:18127752-18130600	Weak transcription Enhancers Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
17	esv3378937	chr17:18128027-18130225	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	esv3419093	chr17:18129743-18129952	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	7 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	chr17:18127400-18130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18127600-18129800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:18127800-18129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:18127800-18129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:18127800-18129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:18127800-18129800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:18128000-18129800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:18128200-18130000	Active TSS	Fetal Kidney	kidney
11	chr17:18128200-18130400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:18128400-18129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:18128400-18129800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:18128400-18129800	Active TSS	Aorta	Aorta
15	chr17:18128400-18129800	Active TSS	Brain Hippocampus Middle	brain
16	chr17:18128400-18129800	Active TSS	Ovary	ovary
17	chr17:18128400-18130000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:18128600-18129800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:18128600-18129800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:18128600-18129800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:18128600-18129800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:18128600-18129800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:18128600-18129800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:18128600-18129800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:18128600-18129800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr17:18128600-18129800	Active TSS	Brain Cingulate Gyrus	brain
27	chr17:18128600-18129800	Active TSS	Brain Substantia Nigra	brain
28	chr17:18128600-18129800	Active TSS	NHLF	lung
29	chr17:18128600-18130000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr17:18128800-18129800	Active TSS	HMEC	breast
31	chr17:18129200-18129800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr17:18129200-18129800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr17:18129200-18129800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:18129200-18129800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:18129200-18129800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:18129200-18129800	Flanking Active TSS	Liver	Liver
37	chr17:18129200-18129800	Active TSS	Fetal Lung	lung
38	chr17:18129200-18129800	Active TSS	NHDF-Ad	bronchial
39	chr17:18129200-18130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:18129200-18130000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr17:18129200-18130000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr17:18129200-18130000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:18129200-18130000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr17:18129200-18130000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr17:18129200-18130200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:18129200-18130200	Flanking Active TSS	Colonic Mucosa	Colon
47	chr17:18129200-18130200	Flanking Active TSS	Placenta	Placenta
48	chr17:18129200-18130200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr17:18129200-18130200	Active TSS	HSMMtube	muscle
50	chr17:18129400-18129800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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