Variant report

Variant	rs7998043
Chromosome Location	chr13:76035742-76035743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
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]
rs2031505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2031506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2146981	1.00[CHB][hapmap]
rs4340196	1.00[JPT][hapmap]
rs4576949	1.00[ASN][1000 genomes]
rs4885294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4885295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4885298	1.00[CHB][hapmap]
rs7317768	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7321494	1.00[JPT][hapmap]
rs9543936	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9573549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9593081	1.00[CHB][hapmap]

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:52 , 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	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
3	chr13:76020400-76054400	Weak transcription	A549	lung
4	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
5	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:76027200-76038600	Weak transcription	HSMM	muscle
7	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
8	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
9	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:76032600-76037800	Weak transcription	Gastric	stomach
11	chr13:76032600-76038800	Weak transcription	Right Ventricle	heart
12	chr13:76033400-76036800	Weak transcription	Spleen	Spleen
13	chr13:76033400-76037000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:76033400-76038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:76033400-76039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:76033600-76036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:76033600-76036200	Enhancers	NHEK	skin
19	chr13:76033600-76036800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:76033600-76037000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:76033600-76038400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr13:76033600-76038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
24	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:76033800-76038800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:76033800-76040800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr13:76034000-76038600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:76034200-76036200	Enhancers	HMEC	breast
30	chr13:76034200-76039200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:76034200-76040200	Enhancers	Fetal Heart	heart
32	chr13:76034600-76036200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:76034600-76036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:76034600-76038800	Weak transcription	GM12878-XiMat	blood
35	chr13:76034800-76038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:76035000-76035800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:76035000-76036000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:76035000-76036000	Enhancers	Osteobl	bone
39	chr13:76035000-76036600	Weak transcription	Psoas Muscle	Psoas
40	chr13:76035000-76038200	Enhancers	HepG2	liver
41	chr13:76035000-76038400	Weak transcription	Pancreas	Pancrea
42	chr13:76035000-76038800	Weak transcription	Right Atrium	heart
43	chr13:76035200-76036000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:76035200-76036200	Enhancers	NH-A	brain
45	chr13:76035200-76036800	Weak transcription	Left Ventricle	heart
46	chr13:76035200-76038800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:76035400-76035800	Weak transcription	Ovary	ovary
49	chr13:76035400-76035800	Weak transcription	HSMMtube	muscle
50	chr13:76035400-76036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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