Variant report

Variant	rs62158654
Chromosome Location	chr2:113385993-113385994
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113385173..113386077-chr2:113402039..113402607,2	Hela-S3	cervix:
2	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
3	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
4	chr2:113380240..113386960-chr2:113401832..113406779,10	MCF-7	breast:
5	chr2:113361529..113364107-chr2:113384618..113387242,2	K562	blood:
6	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
7	chr2:113383706..113386562-chr2:113417388..113419756,2	MCF-7	breast:
8	chr2:113361529..113363513-chr2:113383774..113386118,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11676691	0.95[EUR][1000 genomes]
rs11677284	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11678996	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11680446	0.87[ASN][1000 genomes]
rs12476928	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13023016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4848284	0.87[EUR][1000 genomes]
rs4849083	0.87[EUR][1000 genomes]
rs4849084	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6724434	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758898	0.86[EUR][1000 genomes]
rs908545	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:113380200-113387600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:113380400-113387600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:113381600-113386000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:113381600-113389600	Enhancers	Placenta	Placenta
11	chr2:113382400-113387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:113383400-113386000	Enhancers	Fetal Thymus	thymus
13	chr2:113383400-113386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:113383600-113386000	Enhancers	Primary B cells from cord blood	blood
15	chr2:113384000-113386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:113384000-113386000	Enhancers	Small Intestine	intestine
17	chr2:113384000-113386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:113384200-113386000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:113384600-113386200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:113384600-113387800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:113384600-113387800	Weak transcription	Liver	Liver
23	chr2:113384600-113388000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:113384600-113388000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:113384600-113388000	Weak transcription	Left Ventricle	heart
26	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
27	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:113384800-113386200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:113384800-113386200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:113384800-113387800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:113384800-113388200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:113384800-113388600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:113384800-113388600	Weak transcription	Lung	lung
35	chr2:113384800-113389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:113384800-113389200	Weak transcription	Fetal Brain Female	brain
37	chr2:113385000-113386600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:113385000-113387200	Enhancers	NHLF	lung
39	chr2:113385000-113387800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:113385000-113387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:113385000-113387800	Enhancers	HMEC	breast
42	chr2:113385000-113387800	Enhancers	HUVEC	blood vessel
43	chr2:113385000-113388000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:113385000-113388000	Weak transcription	Aorta	Aorta
45	chr2:113385000-113388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
48	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
49	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
50	chr2:113385200-113386000	Enhancers	Right Atrium	heart

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