Variant report

Variant	rs2682857
Chromosome Location	chr2:187535271-187535272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187454136..187456357-chr2:187534101..187536077,3	K562	blood:
2	chr2:187534492..187537090-chr2:187539566..187542233,2	MCF-7	breast:
3	chr2:187533999..187537755-chr2:187540182..187542423,3	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178617	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211436	1.00[ASN][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430921	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406098	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122176	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	1.00[ASN][1000 genomes]
rs2594700	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594701	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	1.00[ASN][1000 genomes]
rs2595381	1.00[ASN][1000 genomes]
rs2595382	1.00[ASN][1000 genomes]
rs2595391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595394	1.00[ASN][1000 genomes]
rs2595398	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	1.00[ASN][1000 genomes]
rs2682851	1.00[ASN][1000 genomes]
rs2682855	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682862	1.00[ASN][1000 genomes]
rs2682875	1.00[ASN][1000 genomes]
rs28616716	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114944	1.00[ASN][1000 genomes]
rs55666589	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088351	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs62200585	1.00[ASN][1000 genomes]
rs7564965	1.00[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
3	chr2:187494200-187535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:187503400-187545000	Weak transcription	Hela-S3	cervix
6	chr2:187506600-187537000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:187507800-187546600	Weak transcription	Small Intestine	intestine
8	chr2:187511200-187536200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:187511400-187546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:187511600-187545000	Strong transcription	Osteobl	bone
11	chr2:187513800-187546800	Strong transcription	NH-A	brain
12	chr2:187514600-187546200	Strong transcription	Placenta	Placenta
13	chr2:187515200-187536200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:187516400-187543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:187516600-187545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
17	chr2:187520000-187545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:187520200-187537000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:187523200-187535800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:187523400-187537200	Strong transcription	Fetal Intestine Large	intestine
22	chr2:187525000-187543200	Weak transcription	Thymus	Thymus
23	chr2:187525400-187541800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:187526600-187537200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:187527600-187537000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:187527600-187537400	Strong transcription	HepG2	liver
27	chr2:187527600-187543600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:187527600-187546400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:187527800-187536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:187527800-187536400	Strong transcription	A549	lung
31	chr2:187527800-187536800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:187527800-187537000	Strong transcription	Adipose Nuclei	Adipose
33	chr2:187527800-187537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:187527800-187542000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:187527800-187542000	Strong transcription	HMEC	breast
36	chr2:187527800-187544200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:187528000-187536400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:187528000-187543200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:187528000-187544000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:187528000-187544600	Strong transcription	HSMM	muscle
41	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:187528200-187537000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:187528200-187543600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:187528400-187536000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:187528400-187537200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:187528400-187537800	Strong transcription	Liver	Liver
47	chr2:187528400-187542600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:187528600-187543600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:187528800-187537000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:187528800-187539400	Strong transcription	HSMMtube	muscle

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