Variant report

Variant	rs62136264
Chromosome Location	chr2:32582950-32582951
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32287594..32289810-chr2:32581615..32583417,2	K562	blood:
2	chr2:32582274..32583881-chr2:32678469..32681108,2	MCF-7	breast:
3	chr2:32582196..32583747-chr2:32593827..32595357,2	K562	blood:
4	chr2:32234491..32236283-chr2:32581671..32583851,2	MCF-7	breast:
5	chr2:32390024..32393805-chr2:32579476..32583220,6	K562	blood:
6	chr2:32502844..32506291-chr2:32580260..32584122,8	K562	blood:
7	chr2:32582006..32583703-chr2:32658464..32660440,2	K562	blood:
8	chr2:32581225..32583704-chr2:32604537..32607336,3	MCF-7	breast:
9	chr2:32388440..32390986-chr2:32579691..32583834,6	K562	blood:
10	chr2:32582158..32583820-chr2:32797519..32800211,2	MCF-7	breast:
11	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:
12	chr2:32582832..32585768-chr2:32608002..32610374,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000119820	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000230046	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1046602	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12470811	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470951	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011943	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011947	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011963	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366937	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35368935	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36060675	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41291167	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.84[EUR][1000 genomes]
rs4952259	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4952260	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55788900	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57813560	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61439415	0.82[EUR][1000 genomes]
rs62134039	0.80[EUR][1000 genomes]
rs62134043	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62134044	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62134045	0.82[EUR][1000 genomes]
rs62134050	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62134052	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62134054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62134059	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136269	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62136276	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136278	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136279	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136280	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136281	1.00[ASN][1000 genomes]
rs62136282	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136284	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136285	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136287	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136302	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136306	1.00[ASN][1000 genomes]
rs62136326	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543655	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747906	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798728	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72798733	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72798777	1.00[ASN][1000 genomes]
rs72798784	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798788	1.00[ASN][1000 genomes]
rs72798796	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72800830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609320	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised 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	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32580800-32583200	Active TSS	Liver	Liver
2	chr2:32580800-32583400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:32580800-32583400	Active TSS	K562	blood
4	chr2:32581000-32583200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:32581000-32583200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:32581000-32583200	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr2:32581000-32583400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:32581000-32583400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:32581000-32583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:32581000-32583400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:32581000-32583400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:32581000-32583400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:32581000-32583400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:32581000-32583400	Active TSS	Osteobl	bone
15	chr2:32581000-32583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:32581000-32583600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:32581000-32583800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:32581000-32583800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:32581000-32584000	Active TSS	GM12878-XiMat	blood
20	chr2:32581200-32583200	Active TSS	Primary T cells from cord blood	blood
21	chr2:32581200-32583200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:32581200-32583200	Active TSS	Brain Substantia Nigra	brain
23	chr2:32581200-32583200	Active TSS	Fetal Heart	heart
24	chr2:32581200-32583200	Active TSS	Fetal Lung	lung
25	chr2:32581200-32583200	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:32581200-32583400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:32581200-32583400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:32581200-32583400	Active TSS	Colonic Mucosa	Colon
29	chr2:32581200-32583400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:32581200-32583400	Active TSS	A549	lung
31	chr2:32581200-32583400	Active TSS	HSMMtube	muscle
32	chr2:32581200-32583400	Active TSS	NHDF-Ad	bronchial
33	chr2:32581200-32583400	Active TSS	NHEK	skin
34	chr2:32581200-32583600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:32581200-32583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:32581200-32583600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:32581200-32583600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr2:32581200-32583600	Active TSS	NHLF	lung
39	chr2:32581200-32583800	Active TSS	HMEC	breast
40	chr2:32581400-32583200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr2:32581400-32583200	Active TSS	Primary T cells fromperipheralblood	blood
42	chr2:32581400-32583200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:32581400-32583200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:32581400-32583200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:32581400-32583200	Active TSS	Brain Angular Gyrus	brain
46	chr2:32581400-32583200	Active TSS	Brain Anterior Caudate	brain
47	chr2:32581400-32583200	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:32581400-32583200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:32581400-32583200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:32581400-32583200	Active TSS	Duodenum Mucosa	Duodenum

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