Variant report

Variant	rs17064542
Chromosome Location	chr13:76053695-76053696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76048295..76050774-chr13:76052549..76054947,2	MCF-7	breast:
2	chr13:76053295..76053983-chr2:68978753..68979370,2	MCF-7	breast:
3	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17071230	1.00[AFR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76020400-76054400	Weak transcription	A549	lung
2	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
3	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
5	chr13:76045800-76054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76048400-76054200	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:76052000-76054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:76052200-76054400	Weak transcription	Liver	Liver
10	chr13:76052200-76057000	Active TSS	Right Atrium	heart
11	chr13:76052400-76054000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:76052400-76054400	Weak transcription	Brain Substantia Nigra	brain
13	chr13:76052400-76054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:76052400-76054800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr13:76052400-76055000	Weak transcription	Spleen	Spleen
16	chr13:76052600-76054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr13:76052600-76054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:76052600-76054800	Weak transcription	Gastric	stomach
19	chr13:76052600-76057000	Active TSS	Left Ventricle	heart
20	chr13:76052600-76057000	Active TSS	Right Ventricle	heart
21	chr13:76052800-76053800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:76052800-76053800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr13:76053000-76053800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:76053000-76053800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:76053000-76054000	Enhancers	Osteobl	bone
26	chr13:76053000-76054600	Weak transcription	Brain Angular Gyrus	brain
27	chr13:76053000-76054600	Active TSS	GM12878-XiMat	blood
28	chr13:76053000-76054600	Active TSS	HepG2	liver
29	chr13:76053000-76057000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:76053200-76053800	Enhancers	Small Intestine	intestine
31	chr13:76053200-76054000	Weak transcription	Colonic Mucosa	Colon
32	chr13:76053200-76054000	Flanking Active TSS	Fetal Lung	lung
33	chr13:76053200-76054200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr13:76053200-76054400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:76053200-76054400	Enhancers	HUVEC	blood vessel
36	chr13:76053200-76054600	Enhancers	Primary hematopoietic stem cells	blood
37	chr13:76053200-76054600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr13:76053200-76054800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr13:76053200-76057400	Active TSS	Fetal Kidney	kidney
40	chr13:76053400-76053800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr13:76053400-76054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:76053400-76054400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr13:76053400-76054400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:76053400-76054800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr13:76053400-76057000	Active TSS	Fetal Heart	heart
46	chr13:76053400-76057000	Active TSS	Psoas Muscle	Psoas
47	chr13:76053400-76057000	Active TSS	K562	blood
48	chr13:76053400-76057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr13:76053600-76053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:76053600-76053800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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