Variant report

Variant	rs62172428
Chromosome Location	chr2:188413374-188413375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188408868..188410387-chr2:188412786..188414991,2	MCF-7	breast:
2	chr2:188412314..188413944-chr2:188414421..188417624,3	MCF-7	breast:
3	chr2:188366746..188369254-chr2:188412378..188414717,2	K562	blood:
4	chr2:188407472..188409911-chr2:188410680..188413536,3	MCF-7	breast:
5	chr2:188392650..188395033-chr2:188412614..188414418,2	K562	blood:
6	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10164687	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209536	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904140	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465456	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469935	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431970	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666730	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666731	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667177	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667179	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58172383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59650207	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60883561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172429	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172435	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172453	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172454	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172455	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172456	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172457	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62172459	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62174260	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906235	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188398400-188418000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:188406600-188413600	Weak transcription	Right Atrium	heart
4	chr2:188406800-188413400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:188406800-188415600	Weak transcription	Spleen	Spleen
6	chr2:188406800-188417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:188406800-188418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:188407000-188414600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:188407000-188414800	Weak transcription	Small Intestine	intestine
12	chr2:188407200-188414600	Weak transcription	Aorta	Aorta
13	chr2:188408600-188413600	Enhancers	Hela-S3	cervix
14	chr2:188408600-188414600	Enhancers	NHDF-Ad	bronchial
15	chr2:188409200-188414600	Enhancers	Osteobl	bone
16	chr2:188409600-188414200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:188409800-188414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:188409800-188415600	Weak transcription	Placenta	Placenta
19	chr2:188409800-188415600	Weak transcription	Lung	lung
20	chr2:188409800-188415600	Weak transcription	Ovary	ovary
21	chr2:188409800-188416000	Weak transcription	Left Ventricle	heart
22	chr2:188410200-188414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:188410200-188414600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:188410400-188414600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:188410600-188413800	Genic enhancers	HepG2	liver
26	chr2:188410800-188414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:188410800-188414600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:188410800-188417800	Weak transcription	Fetal Kidney	kidney
29	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:188411000-188416200	Enhancers	Fetal Lung	lung
31	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:188411200-188413800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:188411600-188413400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:188411600-188413400	Enhancers	NHEK	skin
36	chr2:188411800-188413400	Enhancers	HMEC	breast
37	chr2:188411800-188413800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:188411800-188414000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:188411800-188415400	Genic enhancers	K562	blood
40	chr2:188412000-188413800	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr2:188412000-188413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:188412000-188415600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:188412200-188414800	Weak transcription	Adipose Nuclei	Adipose
44	chr2:188412400-188413600	Genic enhancers	HUVEC	blood vessel
45	chr2:188412400-188414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:188412400-188414800	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:188412400-188415600	Weak transcription	Pancreas	Pancrea
48	chr2:188412600-188414800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:188412600-188415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:188412600-188415600	Weak transcription	Dnd41	blood

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