Variant report

Variant	rs375058045
Chromosome Location	chr17:18129835-18129836
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
12	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091542	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000266677	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	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:18128200-18130000	Active TSS	Fetal Kidney	kidney
5	chr17:18128200-18130400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:18128400-18130000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:18128600-18130000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:18129200-18130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:18129200-18130000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr17:18129200-18130000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr17:18129200-18130000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:18129200-18130000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:18129200-18130000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr17:18129200-18130200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:18129200-18130200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr17:18129200-18130200	Flanking Active TSS	Placenta	Placenta
17	chr17:18129200-18130200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr17:18129200-18130200	Active TSS	HSMMtube	muscle
19	chr17:18129400-18130000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr17:18129400-18130000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr17:18129400-18130000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:18129400-18130000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr17:18129400-18130000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr17:18129400-18130000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr17:18129400-18130000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr17:18129400-18130000	Flanking Active TSS	Fetal Thymus	thymus
27	chr17:18129400-18130000	Flanking Active TSS	Lung	lung
28	chr17:18129400-18130000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr17:18129400-18130000	Flanking Active TSS	Right Ventricle	heart
30	chr17:18129400-18130000	Flanking Active TSS	Stomach Mucosa	stomach
31	chr17:18129400-18130000	Flanking Active TSS	A549	lung
32	chr17:18129400-18130000	Flanking Active TSS	GM12878-XiMat	blood
33	chr17:18129400-18130000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr17:18129400-18130200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:18129400-18130200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:18129400-18130200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr17:18129400-18130200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr17:18129400-18130200	Flanking Active TSS	Hela-S3	cervix
39	chr17:18129400-18130400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr17:18129400-18130400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr17:18129400-18130400	Flanking Active TSS	Fetal Brain Male	brain
42	chr17:18129400-18130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:18129400-18130600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr17:18129400-18130600	Flanking Active TSS	Dnd41	blood
45	chr17:18129400-18130600	Flanking Active TSS	Osteobl	bone
46	chr17:18129400-18130800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:18129400-18130800	Flanking Active TSS	Fetal Brain Female	brain
48	chr17:18129600-18130000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:18129600-18130000	Flanking Active TSS	Gastric	stomach
50	chr17:18129600-18130000	Flanking Active TSS	Rectal Smooth Muscle	rectum

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