Variant report

Variant	rs2682869
Chromosome Location	chr2:187545660-187545661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187543296..187546099-chr2:187546691..187548882,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1375447	0.84[AMR][1000 genomes]
rs1449088	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1449090	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1449091	0.84[AMR][1000 genomes]
rs1470602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16828108	1.00[EUR][1000 genomes]
rs16828136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2167013	0.84[AMR][1000 genomes]
rs2247924	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2442316	0.84[AMR][1000 genomes]
rs2442318	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2594698	0.82[ASN][1000 genomes]
rs2594702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2594703	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2594704	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2595377	0.84[AMR][1000 genomes]
rs2595379	0.84[AMR][1000 genomes]
rs2682852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682853	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682854	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682858	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2682859	0.84[AMR][1000 genomes]
rs2682860	0.84[AMR][1000 genomes]
rs2682861	0.84[AMR][1000 genomes]
rs2682866	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682870	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682872	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682874	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3738918	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556971	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976693	0.84[AMR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187507800-187546600	Weak transcription	Small Intestine	intestine
3	chr2:187511400-187546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:187513800-187546800	Strong transcription	NH-A	brain
5	chr2:187514600-187546200	Strong transcription	Placenta	Placenta
6	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
7	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:187527600-187546400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
11	chr2:187536200-187546800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:187536400-187550000	Weak transcription	Gastric	stomach
14	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:187538000-187547200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:187538200-187546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:187538200-187546200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:187538200-187547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:187538600-187547000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:187539400-187548400	Weak transcription	Spleen	Spleen
24	chr2:187540000-187548600	Weak transcription	Fetal Kidney	kidney
25	chr2:187540400-187546600	Weak transcription	K562	blood
26	chr2:187540400-187548200	Weak transcription	GM12878-XiMat	blood
27	chr2:187541400-187548600	Weak transcription	Colonic Mucosa	Colon
28	chr2:187541600-187548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:187541600-187550800	Weak transcription	Lung	lung
30	chr2:187541800-187546400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:187541800-187548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:187541800-187548200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:187541800-187548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:187541800-187548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:187541800-187548600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
37	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
39	chr2:187542000-187545800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:187542000-187546000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:187542000-187546400	Weak transcription	HMEC	breast
42	chr2:187542000-187546600	Weak transcription	Primary T cells from cord blood	blood
43	chr2:187542000-187547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
45	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
46	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:187542200-187546200	Weak transcription	HSMMtube	muscle
49	chr2:187542200-187546400	Weak transcription	Ovary	ovary
50	chr2:187542200-187547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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