Variant report

Variant	rs62483722
Chromosome Location	chr7:107186349-107186350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107178929..107181687-chr7:107183616..107186437,2	K562	blood:
2	chr7:107183753..107186619-chr7:107203811..107206645,3	K562	blood:

Variant related genes	Relation type
ENSG00000164597	Chromatin interaction
ENSG00000105865	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1015411	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10224503	0.80[ASN][1000 genomes]
rs10234355	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237948	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243340	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10245210	0.84[ASN][1000 genomes]
rs10248717	0.81[EUR][1000 genomes]
rs10251808	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10258385	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264412	0.94[ASN][1000 genomes]
rs10267907	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273733	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10274041	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10276604	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281535	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11535285	0.87[ASN][1000 genomes]
rs11977187	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12667527	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668402	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12673675	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1468336	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1544336	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17154077	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17154091	0.85[ASN][1000 genomes]
rs17154104	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2023685	0.88[ASN][1000 genomes]
rs2057837	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2066735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107713	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2178497	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2189839	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237670	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237671	0.86[ASN][1000 genomes]
rs2237672	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237673	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237676	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237677	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237678	0.89[ASN][1000 genomes]
rs2250414	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2253146	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253269	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253271	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253833	0.89[ASN][1000 genomes]
rs2293658	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395882	0.85[ASN][1000 genomes]
rs2395883	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395907	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520241	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520242	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520243	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520245	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520246	0.87[ASN][1000 genomes]
rs2520247	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520249	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520250	0.86[ASN][1000 genomes]
rs2520251	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2520252	0.88[ASN][1000 genomes]
rs2520256	0.89[ASN][1000 genomes]
rs2520260	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520261	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520264	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520265	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520267	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2520268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520269	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520271	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2520277	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2712189	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2712191	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712193	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2712195	0.87[ASN][1000 genomes]
rs2712196	0.87[ASN][1000 genomes]
rs2712197	0.86[ASN][1000 genomes]
rs2712199	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712200	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2712201	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712214	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712215	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712224	0.92[ASN][1000 genomes]
rs2807	0.82[ASN][1000 genomes]
rs2808	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28687365	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28714607	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2894466	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2894475	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3094383	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34325395	0.87[ASN][1000 genomes]
rs3779494	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779495	0.86[ASN][1000 genomes]
rs3801944	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801948	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801954	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4727678	0.85[ASN][1000 genomes]
rs4727679	0.85[ASN][1000 genomes]
rs4727680	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727681	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727684	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730245	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56967324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57452492	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58052742	0.89[ASN][1000 genomes]
rs58391518	0.82[AMR][1000 genomes]
rs62482543	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62483723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483725	0.89[ASN][1000 genomes]
rs62483727	0.89[ASN][1000 genomes]
rs67982599	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6976607	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7778250	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7778270	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782057	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7786801	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7790534	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7793613	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803102	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7809950	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs986994	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987391	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107154000-107193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
4	chr7:107166600-107194600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107169600-107186400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
8	chr7:107176800-107187400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:107178600-107194200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:107178800-107194400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:107182800-107186600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr7:107182800-107188400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr7:107183000-107186400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr7:107183000-107187400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:107183000-107188600	Strong transcription	Hela-S3	cervix
17	chr7:107183200-107188400	Strong transcription	Dnd41	blood
18	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:107183600-107186600	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr7:107183600-107188000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:107183600-107188200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr7:107183600-107188200	Strong transcription	HUVEC	blood vessel
23	chr7:107183600-107189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:107183800-107186600	Strong transcription	NHEK	skin
25	chr7:107183800-107187000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:107183800-107188600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:107184000-107186400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:107184000-107187200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr7:107184000-107187800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:107184200-107188400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:107184400-107186600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr7:107184400-107187800	Strong transcription	Colonic Mucosa	Colon
33	chr7:107184400-107188200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr7:107184400-107188200	Strong transcription	Placenta	Placenta
35	chr7:107184400-107188200	Strong transcription	NHDF-Ad	bronchial
36	chr7:107184400-107189000	Strong transcription	Fetal Thymus	thymus
37	chr7:107184600-107187200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:107184600-107188000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:107184600-107188200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr7:107184600-107195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:107184800-107186600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:107184800-107186800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:107184800-107186800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:107184800-107186800	Strong transcription	HMEC	breast
45	chr7:107184800-107186800	ZNF genes & repeats	K562	blood
46	chr7:107184800-107187200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr7:107184800-107188200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:107184800-107188600	Strong transcription	Liver	Liver
49	chr7:107185000-107186400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr7:107185000-107186600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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