Variant report

Variant	rs2927600
Chromosome Location	chr2:168188595-168188596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10186558	0.89[EUR][1000 genomes]
rs10189334	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10192896	0.92[EUR][1000 genomes]
rs1048981	0.88[GIH][hapmap];0.89[TSI][hapmap]
rs10497321	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs10803821	0.86[EUR][1000 genomes]
rs10803822	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10930264	0.87[EUR][1000 genomes]
rs10930265	0.90[EUR][1000 genomes]
rs10930268	0.83[EUR][1000 genomes]
rs10930270	0.83[EUR][1000 genomes]
rs12105767	0.88[EUR][1000 genomes]
rs12620530	0.80[EUR][1000 genomes]
rs12692859	0.83[EUR][1000 genomes]
rs1357599	0.90[EUR][1000 genomes]
rs1357605	0.81[EUR][1000 genomes]
rs1382318	0.83[EUR][1000 genomes]
rs1403894	0.90[EUR][1000 genomes]
rs1403897	0.83[EUR][1000 genomes]
rs1403898	0.83[EUR][1000 genomes]
rs1403899	0.83[EUR][1000 genomes]
rs1403900	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1403901	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1478384	0.83[EUR][1000 genomes]
rs1478385	0.83[EUR][1000 genomes]
rs1479587	0.82[EUR][1000 genomes]
rs1523878	0.88[EUR][1000 genomes]
rs1523882	0.83[EUR][1000 genomes]
rs1540820	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540821	0.93[EUR][1000 genomes]
rs1540822	0.89[EUR][1000 genomes]
rs1568747	0.83[EUR][1000 genomes]
rs1581484	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1581485	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1589728	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608518	0.90[ASN][1000 genomes]
rs1608519	0.83[EUR][1000 genomes]
rs1608520	0.83[EUR][1000 genomes]
rs16853227	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs16853282	0.91[CEU][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs16853285	0.91[CEU][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs16853291	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs16853296	0.91[CEU][hapmap]
rs16853305	0.91[CEU][hapmap]
rs16853306	0.83[CEU][hapmap]
rs16853309	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs16853328	0.83[CEU][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.94[TSI][hapmap]
rs16853330	0.83[CEU][hapmap]
rs16853331	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs16853337	0.91[CEU][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs16853344	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs16853346	0.80[EUR][1000 genomes]
rs16853348	0.82[EUR][1000 genomes]
rs16853353	0.82[EUR][1000 genomes]
rs16853360	0.82[EUR][1000 genomes]
rs16853370	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1851758	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1851759	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1851760	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916742	0.86[EUR][1000 genomes]
rs1916746	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916747	0.89[EUR][1000 genomes]
rs1916748	0.83[EUR][1000 genomes]
rs1916749	0.83[EUR][1000 genomes]
rs1916750	0.83[EUR][1000 genomes]
rs1916751	0.83[EUR][1000 genomes]
rs1996949	0.83[EUR][1000 genomes]
rs2103098	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2140501	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177441	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177442	0.85[EUR][1000 genomes]
rs2250619	0.83[EUR][1000 genomes]
rs2617368	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2617386	0.83[EUR][1000 genomes]
rs2617388	0.83[EUR][1000 genomes]
rs2617391	0.83[EUR][1000 genomes]
rs2617393	0.83[EUR][1000 genomes]
rs2617394	0.83[EUR][1000 genomes]
rs2617398	0.83[EUR][1000 genomes]
rs2617399	0.83[EUR][1000 genomes]
rs2689820	0.83[EUR][1000 genomes]
rs2689823	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689825	0.83[EUR][1000 genomes]
rs2689826	0.83[EUR][1000 genomes]
rs2689827	0.83[EUR][1000 genomes]
rs2689828	0.83[EUR][1000 genomes]
rs2689832	0.83[EUR][1000 genomes]
rs2689833	0.83[EUR][1000 genomes]
rs2689842	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2949009	0.83[EUR][1000 genomes]
rs2949010	0.83[EUR][1000 genomes]
rs3749004	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs3749006	0.83[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs4538166	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4667949	0.83[EUR][1000 genomes]
rs57797869	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58013803	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60102532	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61529696	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6432987	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs6726067	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6731860	0.82[EUR][1000 genomes]
rs6735992	0.82[EUR][1000 genomes]
rs6743941	0.92[ASN][1000 genomes]
rs6746887	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6747227	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs6759681	0.90[CEU][hapmap];0.84[JPT][hapmap]
rs73972228	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972230	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7573953	0.83[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap]
rs7576187	0.83[EUR][1000 genomes]
rs7576938	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs7580183	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs7581012	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs7581190	0.91[CEU][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs7593641	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594496	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7600424	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs7602109	0.83[CEU][hapmap]
rs7602259	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs7607246	0.91[CEU][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs899185	0.83[EUR][1000 genomes]
rs922536	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs922537	0.91[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs9287881	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs940315	0.83[EUR][1000 genomes]
rs9751663	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751666	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168187000-168190400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:168187400-168191200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:168187600-168188600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:168187600-168188600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:168187600-168188600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:168187600-168188800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:168187600-168189200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:168187600-168189400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:168187600-168190400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:168187600-168194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:168187800-168188600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:168187800-168188600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:168187800-168189200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:168187800-168189200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:168187800-168189200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:168187800-168189200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:168187800-168190200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:168187800-168190400	Enhancers	Colonic Mucosa	Colon
19	chr2:168187800-168190800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:168187800-168192800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:168188000-168188600	Enhancers	Spleen	Spleen
22	chr2:168188000-168189000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:168188000-168190400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:168188200-168188600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:168188200-168188600	Enhancers	Pancreas	Pancrea
26	chr2:168188200-168188600	Enhancers	Right Ventricle	heart
27	chr2:168188200-168190400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:168188200-168191000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:168188200-168191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:168188400-168188800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:168188400-168188800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:168188400-168188800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:168188400-168188800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:168188400-168189200	Enhancers	Fetal Brain Female	brain

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