Variant report

Variant	rs556384551
Chromosome Location	chr7:80263704-80263705
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr7:80263671-80264290	A549	lung:	n/a	n/a
2	FOSL2	chr7:80263667-80264338	A549	lung:	n/a	chr7:80264183-80264191 chr7:80264184-80264195 chr7:80264177-80264186 chr7:80263964-80263973 chr7:80264183-80264190
3	MYC	chr7:80263516-80264165	NB4	blood:	n/a	chr7:80263924-80263934
4	TEAD4	chr7:80263692-80264312	HepG2	liver:	n/a	chr7:80264039-80264048
5	ZKSCAN1	chr7:80263387-80264125	Hela-S3	cervix:	n/a	n/a
6	USF1	chr7:80263674-80264153	A549	lung:	n/a	chr7:80263923-80263934
7	CEBPB	chr7:80263632-80264325	A549	lung:	n/a	chr7:80263980-80263991 chr7:80263979-80263992
8	BRCA1	chr7:80263685-80264171	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:80263676-80264299	MCF-7	breast:	n/a	chr7:80263980-80263991 chr7:80263979-80263992
10	MAFF	chr7:80263641-80264132	HepG2	liver:	n/a	n/a
11	SP1	chr7:80263700-80264221	A549	lung:	n/a	n/a
12	POLR2A	chr7:80263696-80264279	HL-60	blood:	n/a	n/a
13	TCF12	chr7:80263617-80264322	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80263049..80265695-chr7:80267263..80270319,3	K562	blood:

Variant related genes	Relation type
CD36	TF binding region
ENSG00000135218	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:23 , 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
14	nsv1023254	chr7:80256255-80272725	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1027411	chr7:80256255-80276756	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1032295	chr7:80256738-80276756	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2761341	chr7:80256738-80276768	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv888530	chr7:80258564-80279460	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888531	chr7:80258564-80280117	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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
20	nsv888532	chr7:80258564-80282636	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv971195	chr7:80260254-80270989	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking 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
23	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking 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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80258600-80264800	Weak transcription	Left Ventricle	heart
2	chr7:80260000-80265600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:80260200-80264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:80260400-80265200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:80260400-80267200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:80260400-80273400	Weak transcription	Small Intestine	intestine
7	chr7:80260600-80264000	Enhancers	Adipose Nuclei	Adipose
8	chr7:80260600-80267000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:80261200-80264600	Enhancers	Liver	Liver
10	chr7:80261200-80266200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:80261600-80265200	Weak transcription	Psoas Muscle	Psoas
12	chr7:80261600-80266400	Enhancers	HepG2	liver
13	chr7:80261800-80265000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:80261800-80266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:80262200-80264800	Enhancers	Hela-S3	cervix
16	chr7:80262400-80272600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:80262600-80263800	Weak transcription	A549	lung
18	chr7:80263000-80263800	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:80263200-80264000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:80263200-80264400	Enhancers	Fetal Heart	heart
21	chr7:80263200-80264600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:80263200-80266200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:80263400-80263800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:80263400-80263800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:80263400-80263800	Enhancers	HMEC	breast
26	chr7:80263400-80263800	Enhancers	HSMMtube	muscle
27	chr7:80263400-80264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:80263400-80264000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:80263400-80264200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:80263400-80264200	Enhancers	HSMM	muscle
31	chr7:80263400-80264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:80263400-80264400	Enhancers	NHEK	skin
33	chr7:80263400-80265400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:80263400-80265600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:80263400-80265600	Enhancers	Osteobl	bone
36	chr7:80263400-80266400	Enhancers	Fetal Lung	lung
37	chr7:80263400-80267400	Enhancers	NHDF-Ad	bronchial
38	chr7:80263400-80268000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:80263400-80268000	Enhancers	NHLF	lung
40	chr7:80263600-80264000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:80263600-80265600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:80263600-80265800	Enhancers	Primary B cells from cord blood	blood
43	chr7:80263600-80267800	Weak transcription	Right Ventricle	heart

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