Variant report

Variant	rs4576949
Chromosome Location	chr13:75992366-75992367
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	chr13:75992093..75993846-chr13:76062771..76064533,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10507830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11148993	1.00[CHB][hapmap]
rs11618631	1.00[ASN][1000 genomes]
rs11619783	1.00[ASN][1000 genomes]
rs17064454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17064478	0.89[ASN][1000 genomes]
rs2025620	0.90[EUR][1000 genomes]
rs2031505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2031506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2146981	1.00[CHB][hapmap]
rs4340196	1.00[JPT][hapmap]
rs4883997	0.90[EUR][1000 genomes]
rs4885295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4885298	1.00[CHB][hapmap]
rs7321494	1.00[JPT][hapmap]
rs7998043	1.00[ASN][1000 genomes]
rs9543936	1.00[ASN][1000 genomes]
rs9573549	1.00[ASN][1000 genomes]
rs9593081	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
3	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:75988600-75992400	Enhancers	Osteobl	bone
5	chr13:75988600-75999800	Weak transcription	K562	blood
6	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:75989400-75994400	Enhancers	Adipose Nuclei	Adipose
8	chr13:75989600-75993600	Enhancers	HMEC	breast
9	chr13:75989800-75992600	Enhancers	NHEK	skin
10	chr13:75989800-75993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:75990400-75996000	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:75990600-75992800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr13:75990600-75993400	Enhancers	Psoas Muscle	Psoas
14	chr13:75991200-75993000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:75991200-75994200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr13:75991200-75994600	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:75991400-75992400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:75991400-75992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:75991400-75992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:75991400-75992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:75991400-75992600	Weak transcription	Fetal Lung	lung
22	chr13:75991400-75994000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr13:75991400-75994600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr13:75991600-75992400	Weak transcription	Ovary	ovary
25	chr13:75991600-75992800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:75991600-75992800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:75991600-75993400	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:75991600-75994000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:75991600-75994000	Weak transcription	Esophagus	oesophagus
30	chr13:75991600-75994000	Weak transcription	Left Ventricle	heart
31	chr13:75991600-75995200	Weak transcription	Lung	lung
32	chr13:75991600-75995400	Weak transcription	Gastric	stomach
33	chr13:75991600-75998200	Weak transcription	Right Ventricle	heart
34	chr13:75991800-75993000	Weak transcription	Liver	Liver
35	chr13:75991800-75993000	Weak transcription	Pancreas	Pancrea
36	chr13:75991800-75993000	Weak transcription	Stomach Mucosa	stomach
37	chr13:75991800-75993000	Weak transcription	NHLF	lung
38	chr13:75991800-75993600	Enhancers	Hela-S3	cervix
39	chr13:75991800-75995400	Weak transcription	Right Atrium	heart
40	chr13:75991800-75995400	Weak transcription	Small Intestine	intestine
41	chr13:75991800-75999000	Weak transcription	GM12878-XiMat	blood
42	chr13:75992000-75993000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:75992200-75992600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr13:75992200-75992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:75992200-75993400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr13:75992200-75994800	Enhancers	HepG2	liver

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