Variant report

Variant	rs66526112
Chromosome Location	chr7:124504074-124504075
allele	A/C
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

Variant related genes	Relation type
POT1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224463	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10225552	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10226033	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10228201	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10230610	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10233385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233596	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10240673	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241173	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10244817	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246424	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10249722	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253613	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10264060	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265763	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271646	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281582	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10464529	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12111865	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541416	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1541418	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17246404	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107939	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239532	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2286175	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2402751	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402752	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28523990	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28622327	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28638102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28728448	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28844358	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34986416	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36045816	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3925331	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4473974	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4532534	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55964341	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56313563	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56321835	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56356267	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56387611	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59294613	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59670428	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66492217	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66513837	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66665074	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66922607	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67084428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67146030	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67552763	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67585224	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67939974	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68007199	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68091803	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943653	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952721	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971909	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720613	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720614	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs722560	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727505	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7777947	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790856	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7791430	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795943	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7801661	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806680	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9655845	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs988699	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989177	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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:93 , 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	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
10	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:124466800-124540800	Weak transcription	Gastric	stomach
13	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:124467600-124530600	Weak transcription	NH-A	brain
15	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:124474200-124509600	Weak transcription	HMEC	breast
17	chr7:124475400-124506000	Weak transcription	Fetal Kidney	kidney
18	chr7:124475400-124506000	Weak transcription	Fetal Lung	lung
19	chr7:124475400-124511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:124482400-124508200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:124482400-124508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
24	chr7:124486800-124504800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:124487000-124504200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:124487200-124504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
28	chr7:124488000-124506000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:124488000-124513200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:124488200-124506000	Weak transcription	HSMM	muscle
31	chr7:124488400-124531200	Weak transcription	Osteobl	bone
32	chr7:124488600-124506000	Weak transcription	K562	blood
33	chr7:124488600-124508200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:124489200-124507600	Weak transcription	NHEK	skin
35	chr7:124489800-124504600	Weak transcription	Esophagus	oesophagus
36	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:124491400-124506200	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:124491400-124506200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:124491600-124506000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:124491600-124508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:124491800-124511200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:124492000-124506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:124493000-124514400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:124498000-124506200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:124498000-124529000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:124498200-124504600	Weak transcription	Pancreas	Pancrea
47	chr7:124498200-124504800	Weak transcription	Lung	lung
48	chr7:124498200-124505000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:124498200-124505000	Weak transcription	Thymus	Thymus
50	chr7:124498200-124505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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