Variant report

Variant	rs62125670
Chromosome Location	chr2:20791731-20791732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20790147..20792298-chr2:20794346..20796797,2	K562	blood:
3	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
4	chr2:20786032..20787852-chr2:20789540..20791867,2	K562	blood:
5	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269976	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55793738	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57360378	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58726406	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59618840	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60631754	0.81[EUR][1000 genomes]
rs60759855	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61272752	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62124220	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62124225	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124226	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124227	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124228	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124229	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124230	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124231	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124232	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62124234	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62125672	0.81[EUR][1000 genomes]
rs73916905	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73919926	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73919928	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73919930	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7588678	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896737	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785800-20793000	Weak transcription	Gastric	stomach
4	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
7	chr2:20786000-20792200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20786000-20792800	Weak transcription	Colonic Mucosa	Colon
9	chr2:20786000-20793000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
13	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
15	chr2:20787400-20792800	Weak transcription	Fetal Kidney	kidney
16	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:20788200-20792000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:20788400-20791800	Enhancers	Left Ventricle	heart
19	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:20789000-20794000	Enhancers	NHEK	skin
22	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:20789200-20797000	Enhancers	Spleen	Spleen
24	chr2:20789200-20800400	Enhancers	Placenta	Placenta
25	chr2:20789400-20791800	Weak transcription	K562	blood
26	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:20789600-20792800	Weak transcription	HUVEC	blood vessel
28	chr2:20790000-20792800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:20790200-20791800	Enhancers	Ovary	ovary
30	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
31	chr2:20790400-20792400	Weak transcription	A549	lung
32	chr2:20790400-20793600	Enhancers	Fetal Intestine Small	intestine
33	chr2:20790600-20792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:20790600-20792600	Weak transcription	Osteobl	bone
35	chr2:20790600-20792800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:20790800-20791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:20790800-20792200	Weak transcription	NH-A	brain
38	chr2:20790800-20792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:20790800-20792800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
41	chr2:20791000-20792200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:20791000-20792200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20791000-20792200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:20791000-20792200	Weak transcription	HMEC	breast
45	chr2:20791000-20792400	Weak transcription	Lung	lung
46	chr2:20791000-20792800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:20791200-20791800	Enhancers	Stomach Smooth Muscle	stomach
49	chr2:20791200-20792200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:20791200-20792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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