Variant report

Variant	rs7992747
Chromosome Location	chr13:75947218-75947219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:75936738..75942482-chr13:75944415..75947523,6	K562	blood:
2	chr13:75946338..75947252-chr13:76122924..76123992,5	MCF-7	breast:
3	chr13:75945808..75948448-chr13:76055633..76058257,2	MCF-7	breast:
4	chr13:75946564..75947349-chr13:76056407..76057240,4	MCF-7	breast:
5	chr13:75946802..75947592-chr13:76121701..76122528,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000136111	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1325466	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408930	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821127	0.97[ASN][1000 genomes]
rs2104418	0.93[EUR][1000 genomes]
rs2328940	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825441	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885286	0.96[EUR][1000 genomes]
rs5021641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6562886	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6562887	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321494	0.82[CHB][hapmap]
rs7330729	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983831	0.97[EUR][1000 genomes]
rs7991823	0.97[ASN][1000 genomes]
rs7998651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565154	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565157	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573529	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573532	1.00[ASN][1000 genomes]
rs9573533	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:75936600-75947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:75936600-75947600	Weak transcription	Lung	lung
5	chr13:75942000-75949600	Enhancers	Fetal Thymus	thymus
6	chr13:75942600-75952400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:75942800-75949000	Weak transcription	GM12878-XiMat	blood
8	chr13:75943000-75947600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:75943000-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:75944800-75947600	Weak transcription	Left Ventricle	heart
11	chr13:75945600-75955600	Weak transcription	Right Ventricle	heart
12	chr13:75945800-75947600	Weak transcription	Psoas Muscle	Psoas
13	chr13:75946400-75948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:75946600-75947400	Enhancers	HepG2	liver
15	chr13:75946800-75947400	Active TSS	K562	blood
16	chr13:75946800-75947600	Enhancers	Osteobl	bone
17	chr13:75946800-75947800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:75946800-75948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:75946800-75948000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:75946800-75948600	Enhancers	Liver	Liver
21	chr13:75947000-75947400	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:75947000-75947600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:75947000-75947600	Enhancers	HSMM	muscle
24	chr13:75947000-75947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:75947000-75947800	Enhancers	HMEC	breast
26	chr13:75947000-75948000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:75947000-75948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:75947000-75948000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:75947000-75948000	Enhancers	HUVEC	blood vessel
30	chr13:75947000-75948600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:75947000-75949400	Enhancers	Ovary	ovary
32	chr13:75947200-75947400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr13:75947200-75947400	Flanking Active TSS	Fetal Heart	heart
34	chr13:75947200-75947400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr13:75947200-75947600	Enhancers	Hela-S3	cervix
36	chr13:75947200-75947800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:75947200-75947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:75947200-75947800	Enhancers	Fetal Lung	lung
39	chr13:75947200-75947800	Enhancers	Fetal Muscle Leg	muscle
40	chr13:75947200-75948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:75947200-75948000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:75947200-75948000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr13:75947200-75948000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr13:75947200-75948000	Enhancers	Gastric	stomach
45	chr13:75947200-75948000	Enhancers	Right Atrium	heart
46	chr13:75947200-75948000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr13:75947200-75948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:75947200-75952000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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