Variant report

Variant	rs17071227
Chromosome Location	chr13:76033157-76033158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76016614..76019558-chr13:76031564..76033175,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1022912	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17064497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17256927	0.83[AFR][1000 genomes]
rs17257310	0.89[EUR][1000 genomes]
rs17257372	0.89[EUR][1000 genomes]
rs4883998	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9573552	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76012800-76036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:76017800-76033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
4	chr13:76020400-76054400	Weak transcription	A549	lung
5	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
6	chr13:76027000-76034800	Weak transcription	HSMMtube	muscle
7	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:76027200-76035000	Weak transcription	Osteobl	bone
9	chr13:76027200-76035200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:76027200-76038600	Weak transcription	HSMM	muscle
11	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
12	chr13:76030200-76033400	Enhancers	Psoas Muscle	Psoas
13	chr13:76030200-76033800	Enhancers	Fetal Heart	heart
14	chr13:76030400-76034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:76031000-76033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:76031000-76034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
18	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:76032000-76033400	Enhancers	Left Ventricle	heart
20	chr13:76032000-76033400	Enhancers	Pancreas	Pancrea
21	chr13:76032000-76033400	Enhancers	Right Atrium	heart
22	chr13:76032000-76033600	Enhancers	Ovary	ovary
23	chr13:76032400-76033600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:76032400-76033600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:76032600-76033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76032600-76033200	Flanking Active TSS	HepG2	liver
27	chr13:76032600-76033600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:76032600-76037800	Weak transcription	Gastric	stomach
29	chr13:76032600-76038800	Weak transcription	Right Ventricle	heart
30	chr13:76032800-76033400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:76032800-76033600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:76032800-76033800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:76033000-76033400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:76033000-76033400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:76033000-76033400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:76033000-76033400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:76033000-76033400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr13:76033000-76033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:76033000-76033400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr13:76033000-76033400	Enhancers	Fetal Muscle Leg	muscle
41	chr13:76033000-76033400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr13:76033000-76033400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr13:76033000-76033400	Enhancers	Spleen	Spleen
44	chr13:76033000-76033400	Flanking Active TSS	HMEC	breast
45	chr13:76033000-76033600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr13:76033000-76033600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr13:76033000-76033600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:76033000-76033600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:76033000-76033600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:76033000-76033600	Flanking Active TSS	Liver	Liver

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