Variant report

Variant	rs908551
Chromosome Location	chr2:113486079-113486080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10165537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10187872	0.86[CHB][hapmap]
rs10193063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10200192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10203064	0.94[ASN][1000 genomes]
rs10496444	0.81[CHB][hapmap]
rs10496445	0.81[CHB][hapmap]
rs11123148	0.86[CHB][hapmap]
rs11123149	0.96[ASN][1000 genomes]
rs12463996	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475027	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478842	0.81[CHB][hapmap]
rs12622683	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711741	0.81[CHB][hapmap]
rs13009294	0.81[CHB][hapmap]
rs13013602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13015273	0.91[ASW][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13016817	0.91[ASW][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13019249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026263	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027814	0.81[CHB][hapmap]
rs13036237	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382217	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13429613	1.00[ASN][1000 genomes]
rs1609682	0.81[CHB][hapmap]
rs17649681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071373	0.81[CHB][hapmap]
rs2138606	0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs2862226	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783521	0.81[CHB][hapmap]
rs3783525	0.81[CHB][hapmap]
rs3783526	0.81[CHB][hapmap]
rs3783546	0.81[CHB][hapmap]
rs3783550	0.81[CHB][hapmap]
rs3811040	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827761	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4261731	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4848298	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848301	0.80[CHB][hapmap]
rs4848302	0.81[CHB][hapmap]
rs4849115	0.81[CHB][hapmap]
rs4849118	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55762606	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58694576	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6542095	0.81[CHB][hapmap]
rs6706663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6712572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6721292	0.93[ASN][1000 genomes]
rs6753803	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7577241	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7591704	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7594852	0.81[EUR][1000 genomes]
rs7599690	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607470	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:113481800-113486600	Enhancers	Placenta	Placenta
7	chr2:113483000-113488200	Enhancers	Spleen	Spleen
8	chr2:113483600-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113483800-113488200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:113484000-113486200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:113484000-113487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:113484400-113494200	Weak transcription	A549	lung
14	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
18	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
20	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:113484600-113486200	Weak transcription	NH-A	brain
23	chr2:113484600-113494200	Weak transcription	Fetal Thymus	thymus
24	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
25	chr2:113484800-113486400	Weak transcription	Lung	lung
26	chr2:113484800-113490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:113484800-113490400	Weak transcription	Fetal Brain Male	brain
28	chr2:113484800-113490400	Weak transcription	Fetal Intestine Large	intestine
29	chr2:113484800-113494400	Weak transcription	NHEK	skin
30	chr2:113484800-113494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:113484800-113494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
34	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
35	chr2:113485000-113486200	Weak transcription	Hela-S3	cervix
36	chr2:113485000-113494800	Weak transcription	Dnd41	blood
37	chr2:113485200-113486400	Flanking Active TSS	K562	blood
38	chr2:113485200-113494800	Weak transcription	HMEC	breast
39	chr2:113485400-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:113485600-113486400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr2:113485800-113486400	Enhancers	Fetal Heart	heart
42	chr2:113485800-113486400	Enhancers	Fetal Lung	lung
43	chr2:113485800-113486600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr2:113486000-113486200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:113486000-113486200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:113486000-113486200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:113486000-113486200	Enhancers	Fetal Stomach	stomach
48	chr2:113486000-113486200	Enhancers	Stomach Mucosa	stomach
49	chr2:113486000-113486400	Enhancers	HUVEC	blood vessel
50	chr2:113486000-113487000	Weak transcription	Primary hematopoietic stem cells	blood

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