Variant report

Variant	rs62453613
Chromosome Location	chr7:5952740-5952741
allele	C/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	SPI1	chr7:5952699-5952941	GM12878	blood:	n/a	chr7:5952789-5952798 chr7:5952786-5952799 chr7:5952787-5952800

Variant related genes	Relation type
CCZ1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62453585	0.93[AMR][1000 genomes]
rs62453610	0.86[AMR][1000 genomes]
rs62453611	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62453612	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
3	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv887420	chr7:5801820-5963545	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
11	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
12	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
13	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
14	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
15	nsv830892	chr7:5842044-5995489	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1024675	chr7:5868561-5965441	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1031583	chr7:5889011-5970922	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv1026461	chr7:5891977-5970922	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv981428	chr7:5899882-5954957	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1834433	chr7:5930582-5953089	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
25	esv274969	chr7:5936888-5965441	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv1840621	chr7:5939594-5953089	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
27	esv3477638	chr7:5948726-5953124	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv3477639	chr7:5948726-5953124	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
29	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5938200-5955600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:5938200-5962800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:5938200-5963400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5938200-5969400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:5938400-5955600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:5938400-5955600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:5938400-5957800	Weak transcription	Aorta	Aorta
8	chr7:5938400-5963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:5938400-5966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:5938400-5966800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:5938400-5966800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:5938400-5967800	Weak transcription	HSMMtube	muscle
13	chr7:5938400-5971000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:5938400-5971400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:5938400-5972600	Weak transcription	Fetal Brain Female	brain
16	chr7:5938600-5962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:5939600-5964200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:5939800-5954600	Weak transcription	Fetal Heart	heart
19	chr7:5939800-5963200	Weak transcription	A549	lung
20	chr7:5939800-5966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:5941200-5955200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:5943200-5952800	Weak transcription	Fetal Lung	lung
23	chr7:5943400-5971000	Weak transcription	Pancreas	Pancrea
24	chr7:5944200-5953200	Weak transcription	Psoas Muscle	Psoas
25	chr7:5944400-5962600	Weak transcription	Fetal Intestine Large	intestine
26	chr7:5944600-5963200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:5945400-5954800	Strong transcription	Fetal Intestine Small	intestine
28	chr7:5945400-5972600	Weak transcription	Gastric	stomach
29	chr7:5946200-5955200	Weak transcription	NHEK	skin
30	chr7:5946200-5955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:5946400-5972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:5947000-5969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:5947400-5962200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:5947600-5963400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:5947800-5953000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:5948400-5953200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:5948400-5954400	Strong transcription	Fetal Thymus	thymus
38	chr7:5949400-5953200	Strong transcription	Primary T cells from cord blood	blood
39	chr7:5949400-5953200	Strong transcription	Lung	lung
40	chr7:5949400-5954000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:5949400-5955200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:5949800-5954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:5950000-5956000	Weak transcription	Brain Substantia Nigra	brain
44	chr7:5950000-5961800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:5950000-5966800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:5950000-5971600	Weak transcription	Esophagus	oesophagus
47	chr7:5950000-5972000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:5951000-5953600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:5951000-5954800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:5951000-5956200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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