Variant report

Variant	rs62130189
Chromosome Location	chr2:10551782-10551783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
2	chr2:10260422..10262704-chr2:10550963..10552543,2	MCF-7	breast:
3	chr2:10548229..10551901-chr2:10552572..10557970,6	K562	blood:
4	chr2:10408907..10411049-chr2:10550707..10552973,2	K562	blood:
5	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
6	chr2:10440762..10444214-chr2:10546694..10551810,5	K562	blood:
7	chr2:10546313..10548622-chr2:10549795..10552775,2	K562	blood:
8	chr2:10259324..10265273-chr2:10547206..10552383,9	K562	blood:
9	chr2:10276192..10278788-chr2:10550662..10554322,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000272524	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10189719	0.95[ASN][1000 genomes]
rs12467741	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472775	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1808315	0.89[ASN][1000 genomes]
rs35158739	0.80[ASN][1000 genomes]
rs3755263	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755264	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771128	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3771129	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3771134	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771138	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771141	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62130186	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62130190	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876614	0.95[ASN][1000 genomes]
rs876615	0.95[ASN][1000 genomes]
rs876616	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10533000-10551800	Weak transcription	Ovary	ovary
2	chr2:10545400-10551800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:10548400-10552200	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10549400-10552000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:10549400-10552200	Weak transcription	Osteobl	bone
7	chr2:10549400-10553000	Weak transcription	HUVEC	blood vessel
8	chr2:10549400-10553600	Weak transcription	NHLF	lung
9	chr2:10549400-10554000	Weak transcription	Right Atrium	heart
10	chr2:10549400-10554000	Weak transcription	NHDF-Ad	bronchial
11	chr2:10549400-10554200	Weak transcription	Aorta	Aorta
12	chr2:10549400-10555000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:10549400-10562200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:10549400-10563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:10549600-10552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10549600-10552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:10549600-10552000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:10549600-10552200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:10549600-10553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:10549600-10554000	Weak transcription	Left Ventricle	heart
21	chr2:10549600-10554200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:10549600-10562200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:10549800-10552200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:10549800-10552200	Weak transcription	NHEK	skin
26	chr2:10549800-10552400	Weak transcription	Stomach Mucosa	stomach
27	chr2:10549800-10552400	Weak transcription	HMEC	breast
28	chr2:10549800-10552600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:10549800-10552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:10549800-10552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:10549800-10552800	Weak transcription	Fetal Heart	heart
32	chr2:10549800-10553600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:10549800-10553600	Weak transcription	Right Ventricle	heart
34	chr2:10549800-10553600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:10549800-10553800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:10549800-10554000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:10549800-10561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:10549800-10562200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:10549800-10562600	Weak transcription	Esophagus	oesophagus
40	chr2:10549800-10563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:10550000-10554800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:10550200-10552200	Strong transcription	Hela-S3	cervix
43	chr2:10550200-10552400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:10550200-10553400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
46	chr2:10550400-10552000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:10550400-10552200	Weak transcription	K562	blood
48	chr2:10550400-10552400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:10550400-10555200	Strong transcription	Primary T cells from cord blood	blood
50	chr2:10550800-10552000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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