Variant report

Variant	rs7999938
Chromosome Location	chr13:76060644-76060645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:76060500-76060650	AG04450	lung:	n/a	n/a
2	CTCF	chr13:76060520-76060670	RPTEC	kidney:	n/a	n/a
3	POLR2A	chr13:76060299-76060651	HepG2	liver:	n/a	n/a
4	RAD21	chr13:76060411-76060674	HepG2	liver:	n/a	n/a
5	RUNX3	chr13:76060352-76060700	GM12878	blood:	n/a	n/a
6	CTCF	chr13:76060520-76060670	HEK293	kidney:	n/a	n/a
7	CTCF	chr13:76060520-76060670	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr13:76060540-76060690	HCT-116	colon:	n/a	n/a
9	RUNX3	chr13:76060254-76061143	GM12878	blood:	n/a	chr13:76060950-76060959 chr13:76060950-76060959
10	CTCF	chr13:76060500-76060650	HBMEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:76053627..76056561-chr13:76059477..76061299,2	K562	blood:
2	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:
3	chr13:76060354..76062055-chr13:76103178..76106915,3	K562	blood:
4	chr13:76055194..76058369-chr13:76060502..76064078,3	K562	blood:
5	chr13:76060096..76062427-chr13:76067449..76070144,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D4	TF binding region
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11148993	0.87[ASN][1000 genomes]
rs1325463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1359502	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17064554	1.00[ASN][1000 genomes]
rs2031505	0.85[ASN][1000 genomes]
rs2146981	0.87[ASN][1000 genomes]
rs3825440	1.00[ASN][1000 genomes]
rs4885295	0.85[ASN][1000 genomes]
rs4885298	0.87[ASN][1000 genomes]
rs7317768	0.85[ASN][1000 genomes]
rs7329179	0.80[AMR][1000 genomes]
rs9318352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9593081	0.87[ASN][1000 genomes]
rs9634728	0.82[ASN][1000 genomes]
rs9634729	0.87[ASN][1000 genomes]
rs975435	0.92[AFR][1000 genomes];0.83[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
2	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:76057200-76062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:76057200-76063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:76057200-76063400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:76057400-76061400	Weak transcription	Liver	Liver
7	chr13:76057400-76063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:76058600-76063600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:76059000-76060800	Enhancers	NH-A	brain
10	chr13:76059000-76062000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:76059200-76060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:76059200-76061000	Enhancers	Osteobl	bone
13	chr13:76059200-76061200	Enhancers	HSMM	muscle
14	chr13:76059200-76061600	Enhancers	HMEC	breast
15	chr13:76059200-76062000	Enhancers	HepG2	liver
16	chr13:76059400-76060800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:76059800-76060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:76059800-76061000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:76059800-76061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:76059800-76061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:76060000-76061200	Enhancers	HSMMtube	muscle
22	chr13:76060000-76061400	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:76060200-76061200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:76060200-76061400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr13:76060200-76061400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr13:76060200-76061800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:76060400-76061200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:76060400-76061200	Enhancers	GM12878-XiMat	blood
29	chr13:76060400-76061400	Enhancers	K562	blood
30	chr13:76060600-76061800	Enhancers	A549	lung
31	chr13:76060600-76062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:76060600-76063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:76060600-76063400	Weak transcription	NHEK	skin
34	chr13:76060600-76063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:76060600-76063600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:76060600-76063600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:76060600-76063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:76060600-76063600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:76060600-76063600	Weak transcription	Pancreas	Pancrea
40	chr13:76060600-76063600	Weak transcription	Right Atrium	heart
41	chr13:76060600-76063800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:76060600-76063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:76060600-76069400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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