Variant report

Variant	rs537012250
Chromosome Location	chr7:80252578-80252579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:80252533-80252583	PFSK-1	brain:	n/a
2	chr7:80252533-80252583	IMR90	lung:	fetal
3	chr7:80252533-80252583	SK-N-SH_RA	brain:	n/a
4	chr7:80252533-80252583	AG10803	skin:	n/a
5	chr7:80252533-80252583	CMK	blood:	n/a
6	chr7:80252533-80252583	SK-N-SH	brain:	n/a
7	chr7:80252533-80252583	NH-A	brain:	n/a
8	chr7:80252533-80252583	GM12891	blood:	n/a
9	chr7:80252533-80252583	HIPEpiC	eye:	n/a
10	chr7:80252533-80252583	NHDF-neo	bronchial:	n/a
11	chr7:80252533-80252583	NHBE	bronchial:	n/a
12	chr7:80252533-80252583	HRE	kidney:	n/a
13	chr7:80252533-80252583	ProgFib	skin:	n/a
14	chr7:80252533-80252583	H1-hESC	embryonic stem cell:	embryo
15	chr7:80252533-80252583	K562	blood:	n/a
16	chr7:80252533-80252583	BJ	skin:	n/a
17	chr7:80252533-80252583	RPTEC	kidney:	n/a
18	chr7:80252533-80252583	HEK293	kidney:	embryo
19	chr7:80252533-80252583	AoSMC	blood vessel:	n/a
20	chr7:80252533-80252583	HCPEpiC	choroid plexus:	n/a
21	chr7:80252533-80252583	MCF-7	breast:	n/a
22	chr7:80252533-80252583	Hepatocyte	liver:	n/a
23	chr7:80252533-80252583	A549	lung:	n/a
24	chr7:80252533-80252583	GM12892	blood:	n/a
25	chr7:80252533-80252583	SK-N-MC	brain:	n/a
26	chr7:80252533-80252583	Hela-S3	cervix:	n/a
27	chr7:80252533-80252583	PANC-1	pancreas:	n/a
28	chr7:80252533-80252583	PrEC	prostate:	n/a
29	chr7:80252533-80252583	NT2-D1	testis:	n/a
30	chr7:80252533-80252583	HCT-116	colon:	n/a
31	chr7:80252533-80252583	HMEC	breast:	n/a
32	chr7:80252533-80252583	AG04450	lung:	fetal
33	chr7:80252533-80252583	LNCaP	prostate:	n/a
34	chr7:80252533-80252583	AG09319	gingival:	n/a
35	chr7:80252533-80252583	AG09309	skin:	n/a
36	chr7:80252533-80252583	HRCEpiC	kidney:	n/a
37	chr7:80252533-80252583	GM19239	blood:	n/a
38	chr7:80252533-80252583	HCF	heart:	n/a
39	chr7:80252533-80252583	HCM	heart:	n/a
40	chr7:80252533-80252583	AG04449	skin:	fetal
41	chr7:80252533-80252583	MCF10A-Er-Src	breast:	n/a
42	chr7:80252533-80252583	HRPEpiC	eye:	n/a
43	chr7:80252533-80252583	Jurkat	blood:	n/a
44	chr7:80252533-80252583	HL-60	blood:	n/a
45	chr7:80252533-80252583	ovcar-3	ovarian:	n/a
46	chr7:80252533-80252583	HepG2	liver:	n/a
47	chr7:80252533-80252583	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:80252533-80252583	SKMC	muscle:	n/a
49	chr7:80252533-80252583	Caco-2	colon:	n/a
50	chr7:80252533-80252583	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
CD36	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80242200-80252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:80244400-80253000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:80244800-80253000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:80246800-80254000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:80251000-80253400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:80251200-80253000	Enhancers	Adipose Nuclei	Adipose
7	chr7:80251200-80253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:80251400-80252600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80251400-80252600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:80251400-80253400	Enhancers	NHDF-Ad	bronchial
12	chr7:80251400-80253400	Enhancers	NHLF	lung
13	chr7:80251600-80253200	Enhancers	HSMMtube	muscle
14	chr7:80251600-80253200	Enhancers	Osteobl	bone
15	chr7:80251600-80253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:80251600-80253400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:80251600-80253400	Enhancers	HSMM	muscle
18	chr7:80251600-80253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:80251600-80253600	Enhancers	HMEC	breast
20	chr7:80251800-80253000	Weak transcription	Left Ventricle	heart
21	chr7:80251800-80253200	Weak transcription	Psoas Muscle	Psoas
22	chr7:80251800-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:80251800-80253400	Enhancers	Fetal Heart	heart
24	chr7:80251800-80253400	Enhancers	NHEK	skin
25	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
26	chr7:80252000-80253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:80252000-80253000	Weak transcription	Right Atrium	heart
28	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:80252200-80252600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:80252200-80252800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:80252200-80252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:80252400-80252800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:80252400-80252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:80252400-80254400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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