Variant report

Variant	rs60410507
Chromosome Location	chr2:54816180-54816181
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54783987..54787753-chr2:54814113..54820814,10	K562	blood:
2	chr2:54800828..54802394-chr2:54814892..54816682,2	K562	blood:
3	chr2:54816128..54819257-chr2:54823273..54825897,3	MCF-7	breast:
4	chr2:54815292..54817560-chr2:54840163..54841990,2	K562	blood:
5	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
6	chr2:54810337..54813834-chr2:54815762..54818177,4	MCF-7	breast:
7	chr2:54790537..54793498-chr2:54814882..54817196,2	MCF-7	breast:
8	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
9	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
10	chr2:54783797..54785815-chr2:54814403..54816719,2	K562	blood:
11	chr2:54811733..54813663-chr2:54814407..54817316,2	MCF-7	breast:
12	chr2:54815022..54818519-chr2:54825874..54828742,4	K562	blood:
13	chr2:54789266..54791330-chr2:54815899..54818560,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913008	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[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:122 , 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	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
8	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:54808400-54816800	Enhancers	Brain Anterior Caudate	brain
12	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:54809400-54816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:54809400-54816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:54809400-54816400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:54809400-54816400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:54809600-54816200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:54810000-54816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:54810400-54816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:54811200-54816400	Enhancers	Hela-S3	cervix
23	chr2:54811400-54816400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:54811400-54816400	Enhancers	Fetal Thymus	thymus
25	chr2:54811400-54817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:54811400-54819400	Enhancers	Stomach Mucosa	stomach
27	chr2:54811600-54818400	Enhancers	Brain Substantia Nigra	brain
28	chr2:54811600-54819200	Enhancers	Fetal Heart	heart
29	chr2:54811800-54816200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:54811800-54816600	Enhancers	Left Ventricle	heart
31	chr2:54811800-54818800	Enhancers	Brain Hippocampus Middle	brain
32	chr2:54812000-54816400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:54812800-54816200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:54813200-54817800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:54813200-54818000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:54813400-54816400	Enhancers	HUVEC	blood vessel
37	chr2:54813400-54816400	Weak transcription	NHLF	lung
38	chr2:54813600-54818000	Enhancers	Brain Angular Gyrus	brain
39	chr2:54813800-54816400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:54814000-54816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:54814000-54816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:54814000-54816800	Weak transcription	NHDF-Ad	bronchial
43	chr2:54814000-54822800	Weak transcription	Ovary	ovary
44	chr2:54814200-54817000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:54814200-54818200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr2:54814200-54819600	Weak transcription	Fetal Stomach	stomach
47	chr2:54814400-54816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:54814400-54816400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:54814400-54816600	Enhancers	Right Atrium	heart
50	chr2:54814400-54816600	Enhancers	Skeletal Muscle Female	skeletal muscle

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