Variant report

Variant	rs2682851
Chromosome Location	chr2:187628322-187628323
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187626591..187628970-chr2:187631316..187633889,2	K562	blood:
2	chr2:187627243..187630051-chr2:187634032..187636877,3	MCF-7	breast:
3	chr2:187623050..187625745-chr2:187626685..187628956,3	K562	blood:
4	chr2:187623638..187625745-chr2:187626685..187628956,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10178617	1.00[ASN][1000 genomes]
rs10205569	1.00[YRI][hapmap]
rs10211436	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	1.00[ASN][1000 genomes]
rs2122176	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2594701	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	0.89[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682849	1.00[YRI][hapmap]
rs2682850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114944	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666589	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs7424602	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7564965	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:187611000-187628800	Weak transcription	HSMM	muscle
4	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
6	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
7	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:187621800-187628800	Weak transcription	HSMMtube	muscle
10	chr2:187622000-187628600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:187622600-187629000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:187622800-187628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:187622800-187629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:187622800-187629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:187623000-187628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:187624200-187628600	Weak transcription	Psoas Muscle	Psoas
19	chr2:187626600-187629000	Weak transcription	NHDF-Ad	bronchial
20	chr2:187627000-187628600	Weak transcription	Fetal Brain Male	brain
21	chr2:187627200-187628800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:187627200-187628800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:187627200-187628800	Weak transcription	Fetal Lung	lung
24	chr2:187627200-187628800	Weak transcription	Osteobl	bone
25	chr2:187627200-187629000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:187627200-187629000	Weak transcription	HUVEC	blood vessel
27	chr2:187627200-187629200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:187627200-187629200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:187627200-187631600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:187627400-187629000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:187627400-187629000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:187627400-187629200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:187627400-187629200	Weak transcription	Fetal Thymus	thymus
35	chr2:187627400-187629400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:187627400-187629400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:187627400-187629400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:187627400-187629400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:187627400-187629400	Weak transcription	Left Ventricle	heart
40	chr2:187627400-187629400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:187627400-187629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:187627400-187630200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:187627600-187629200	Weak transcription	Brain Germinal Matrix	brain
44	chr2:187627600-187629200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:187627600-187629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:187627600-187629400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:187627600-187629600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:187627600-187629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:187627600-187629600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:187627600-187629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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