Variant report

Variant	rs62134684
Chromosome Location	chr2:54812383-54812384
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54810337..54813834-chr2:54815762..54818177,4	MCF-7	breast:
2	chr2:54785523..54788046-chr2:54812129..54813657,2	K562	blood:
3	chr2:54811907..54814094-chr2:54855383..54857261,2	MCF-7	breast:
4	chr2:54811634..54814043-chr2:54850461..54852371,2	MCF-7	breast:
5	chr2:54796611..54799496-chr2:54810522..54814074,3	MCF-7	breast:
6	chr2:54797362..54799747-chr2:54810321..54813282,3	K562	blood:
7	chr2:54789199..54791941-chr2:54810651..54814148,3	K562	blood:
8	chr2:54800900..54802569-chr2:54811910..54813598,2	K562	blood:
9	chr2:54811733..54813663-chr2:54814407..54817316,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1047465	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2229506	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2941592	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796013	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4426562	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60113783	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62134669	0.81[ASN][1000 genomes]
rs62134676	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62134679	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134680	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134681	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134701	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134705	0.87[AMR][1000 genomes]
rs62134706	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62134707	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62134708	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs907136	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802000-54816400	Enhancers	Liver	Liver
2	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
3	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:54804600-54814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:54806200-54813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:54807200-54812800	Weak transcription	HSMMtube	muscle
11	chr2:54807200-54814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:54807200-54814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
15	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:54807400-54813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:54807600-54813600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:54807800-54812600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54807800-54812600	Genic enhancers	HepG2	liver
20	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:54808000-54813200	Weak transcription	Fetal Stomach	stomach
23	chr2:54808400-54816800	Enhancers	Brain Anterior Caudate	brain
24	chr2:54808800-54815800	Weak transcription	Placenta	Placenta
25	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:54809000-54812400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:54809000-54813000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr2:54809200-54814800	Genic enhancers	A549	lung
29	chr2:54809400-54815600	Weak transcription	Fetal Kidney	kidney
30	chr2:54809400-54816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:54809400-54816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:54809400-54816400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:54809400-54816400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:54809600-54814000	Enhancers	Primary B cells from cord blood	blood
36	chr2:54809600-54814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:54809600-54815200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:54809600-54815600	Weak transcription	Gastric	stomach
39	chr2:54809600-54816200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:54810000-54816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:54810400-54812400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:54810400-54812400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:54810400-54813200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:54810400-54814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:54810400-54814600	Weak transcription	Lung	lung
47	chr2:54810400-54814800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:54810400-54815800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:54810400-54816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:54810600-54812400	Enhancers	GM12878-XiMat	blood

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