Variant report

Variant	rs56313563
Chromosome Location	chr7:124507003-124507004
allele	A/G
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	POLR2A	chr7:124503325-124507619	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124502317..124504649-chr7:124506280..124507789,2	K562	blood:
2	chr7:124504726..124507196-chr7:124509584..124511156,2	K562	blood:

Variant related genes	Relation type
POT1	TF binding region
ENSG00000128513	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10224463	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10225552	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10226033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10228201	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230610	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233385	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10233596	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240673	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241173	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10244817	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10246424	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10249722	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10253613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264060	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10265763	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271646	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281582	0.86[ASN][1000 genomes]
rs10464529	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12111865	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541416	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1541418	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17246404	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107939	0.89[ASN][1000 genomes]
rs2239532	0.81[ASN][1000 genomes]
rs2286175	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402751	0.89[ASN][1000 genomes]
rs2402752	0.91[ASN][1000 genomes]
rs28523990	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28622327	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638102	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28728448	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844358	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34986416	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36045816	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3925331	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4473974	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4532534	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55964341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356267	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387611	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59294613	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59670428	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492217	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66513837	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66526112	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66665074	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66922607	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67084428	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67146030	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67552763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67585224	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67870530	0.81[EUR][1000 genomes]
rs67939974	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68007199	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68091803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952721	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971909	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720613	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs720614	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722560	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs727505	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777947	0.91[ASN][1000 genomes]
rs7790856	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7791430	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7795943	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801661	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7806680	0.91[ASN][1000 genomes]
rs9655845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989177	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
2	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
9	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:124466800-124540800	Weak transcription	Gastric	stomach
12	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:124467600-124530600	Weak transcription	NH-A	brain
14	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:124474200-124509600	Weak transcription	HMEC	breast
16	chr7:124475400-124511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:124482400-124508200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:124482400-124508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
21	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
22	chr7:124488000-124513200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:124488400-124531200	Weak transcription	Osteobl	bone
24	chr7:124488600-124508200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:124489200-124507600	Weak transcription	NHEK	skin
26	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:124491600-124508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:124491800-124511200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:124493000-124514400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:124498000-124529000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:124498200-124508000	Weak transcription	Fetal Brain Female	brain
32	chr7:124498200-124508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:124498200-124508800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:124498200-124509000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:124498200-124509200	Weak transcription	Fetal Stomach	stomach
36	chr7:124498200-124511400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:124498200-124518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
39	chr7:124498400-124508200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:124498400-124509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:124498400-124510600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:124499200-124509400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:124499800-124512600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:124502200-124528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:124502400-124511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:124502800-124509600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:124503000-124531000	Weak transcription	GM12878-XiMat	blood
48	chr7:124503600-124508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:124503600-124528600	Weak transcription	Liver	Liver
50	chr7:124503800-124528600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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