Variant report

Variant	rs62134044
Chromosome Location	chr2:32505261-32505262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32389583..32392652-chr2:32503120..32506003,3	K562	blood:
2	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
3	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:
4	chr2:32491898..32493481-chr2:32503912..32506038,2	K562	blood:
5	chr2:32503345..32506313-chr2:32507159..32510968,3	MCF-7	breast:
6	chr2:32502844..32506291-chr2:32580260..32584122,8	K562	blood:

Variant related genes	Relation type
ENSG00000115760	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1046602	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	0.84[EUR][1000 genomes]
rs17011943	0.82[EUR][1000 genomes]
rs35368935	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952259	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952260	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788900	0.84[EUR][1000 genomes]
rs57813560	0.84[EUR][1000 genomes]
rs61045200	1.00[ASN][1000 genomes]
rs61439415	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134039	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134045	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134050	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134052	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134054	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134059	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62136263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62136264	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62136276	0.82[EUR][1000 genomes]
rs62136278	0.84[EUR][1000 genomes]
rs62136279	0.82[EUR][1000 genomes]
rs72798728	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798733	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32503600-32506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:32503600-32518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32503800-32507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:32503800-32513200	Weak transcription	Small Intestine	intestine
5	chr2:32503800-32513600	Weak transcription	Gastric	stomach
6	chr2:32503800-32520400	Weak transcription	Spleen	Spleen
7	chr2:32504000-32505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:32504000-32505800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:32504000-32505800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:32504000-32505800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:32504000-32506000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:32504000-32506400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:32504000-32506400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:32504000-32507000	Weak transcription	Right Ventricle	heart
15	chr2:32504000-32507000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:32504000-32507400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:32504000-32509600	Weak transcription	NHDF-Ad	bronchial
18	chr2:32504000-32509800	Weak transcription	Esophagus	oesophagus
19	chr2:32504000-32513200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:32504000-32513600	Weak transcription	Psoas Muscle	Psoas
21	chr2:32504000-32515400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:32504000-32516800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:32504000-32516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:32504000-32516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:32504000-32520200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:32504000-32520600	Weak transcription	Aorta	Aorta
27	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
31	chr2:32504200-32505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:32504200-32505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:32504200-32505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:32504200-32505800	Weak transcription	Brain Germinal Matrix	brain
35	chr2:32504200-32505800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:32504200-32505800	Weak transcription	Fetal Lung	lung
37	chr2:32504200-32506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:32504200-32506000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:32504200-32506000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:32504200-32506400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:32504200-32506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:32504200-32506400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:32504200-32506800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:32504200-32506800	Weak transcription	Ovary	ovary
45	chr2:32504200-32507000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:32504200-32507200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:32504200-32507200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:32504200-32507200	Weak transcription	Pancreas	Pancrea
49	chr2:32504200-32508200	Weak transcription	NH-A	brain
50	chr2:32504200-32508600	Weak transcription	Stomach Mucosa	stomach

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