Variant report

Variant	rs73980857
Chromosome Location	chr17:18130641-18130642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
3	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
4	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
5	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
6	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
7	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177731	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11540888	1.00[ASN][1000 genomes]
rs11870681	1.00[ASN][1000 genomes]
rs16961058	1.00[ASN][1000 genomes]
rs16961112	1.00[ASN][1000 genomes]
rs2125154	1.00[ASN][1000 genomes]
rs28671051	1.00[ASN][1000 genomes]
rs4924848	1.00[ASN][1000 genomes]
rs4925170	1.00[ASN][1000 genomes]
rs4925173	1.00[ASN][1000 genomes]
rs4925175	1.00[ASN][1000 genomes]
rs4925180	1.00[ASN][1000 genomes]
rs55973639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[ASN][1000 genomes]
rs7215491	1.00[ASN][1000 genomes]
rs7222589	1.00[ASN][1000 genomes]
rs73980813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074858	1.00[ASN][1000 genomes]
rs8080285	1.00[ASN][1000 genomes]
rs8082574	1.00[ASN][1000 genomes]
rs9893254	1.00[ASN][1000 genomes]
rs9894005	1.00[ASN][1000 genomes]
rs9894616	1.00[ASN][1000 genomes]
rs9902011	1.00[ASN][1000 genomes]
rs9902498	1.00[ASN][1000 genomes]
rs9903762	1.00[ASN][1000 genomes]
rs9913916	1.00[ASN][1000 genomes]
rs9915858	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129400-18130800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:18129400-18130800	Flanking Active TSS	Fetal Brain Female	brain
3	chr17:18129600-18130800	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
5	chr17:18129800-18130800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:18129800-18130800	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr17:18129800-18131200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:18129800-18131200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:18129800-18131200	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr17:18129800-18137000	Weak transcription	Aorta	Aorta
11	chr17:18130000-18130800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:18130000-18130800	Enhancers	Fetal Thymus	thymus
13	chr17:18130000-18131400	Enhancers	Gastric	stomach
14	chr17:18130000-18131800	Weak transcription	Right Ventricle	heart
15	chr17:18130000-18133600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:18130000-18134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:18130000-18136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:18130000-18137000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:18130000-18137000	Weak transcription	Left Ventricle	heart
20	chr17:18130000-18137200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
23	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
25	chr17:18130200-18130800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:18130200-18130800	Enhancers	Stomach Smooth Muscle	stomach
27	chr17:18130200-18131000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:18130200-18131200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:18130200-18131200	Enhancers	Placenta	Placenta
30	chr17:18130200-18131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:18130200-18131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:18130200-18131600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:18130200-18131800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr17:18130200-18132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:18130200-18132200	Weak transcription	Ovary	ovary
36	chr17:18130200-18132800	Enhancers	Fetal Muscle Trunk	muscle
37	chr17:18130200-18134600	Genic enhancers	Fetal Stomach	stomach
38	chr17:18130200-18135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr17:18130200-18135200	Weak transcription	Fetal Intestine Large	intestine
40	chr17:18130200-18135400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr17:18130200-18135400	Weak transcription	Thymus	Thymus
42	chr17:18130200-18135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:18130200-18135800	Weak transcription	Pancreas	Pancrea
44	chr17:18130200-18136000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:18130200-18136000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:18130200-18136000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr17:18130200-18136800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr17:18130200-18137000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:18130200-18137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:18130200-18137400	Weak transcription	Primary B cells from peripheral blood	blood

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