Variant report

Variant	rs2303828
Chromosome Location	chr2:179547860-179547861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179545711..179549997-chr2:179551893..179554753,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1001238	0.83[TSI][hapmap]
rs1007025	0.92[GIH][hapmap]
rs11893580	0.80[TSI][hapmap]
rs12614435	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12618265	0.83[GIH][hapmap]
rs12622914	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs12693162	0.80[CEU][hapmap];0.88[TSI][hapmap]
rs12693164	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs12693166	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs12997957	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs12998857	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs13390491	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs1429094	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1484118	0.81[JPT][hapmap]
rs1560221	0.83[TSI][hapmap]
rs16866397	0.89[GIH][hapmap]
rs16866400	0.93[ASW][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap]
rs16866406	0.94[GIH][hapmap]
rs16866418	0.81[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16866420	0.85[TSI][hapmap]
rs16866465	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs2042995	0.83[TSI][hapmap]
rs2042996	0.85[TSI][hapmap]
rs2129110	0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2163009	0.83[TSI][hapmap]
rs2255167	0.83[AMR][1000 genomes]
rs2288569	0.94[GIH][hapmap]
rs2303838	1.00[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs2472751	0.85[TSI][hapmap]
rs2562845	0.93[ASW][hapmap];0.92[GIH][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2857265	0.89[GIH][hapmap]
rs35112591	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731746	0.84[TSI][hapmap]
rs3731748	0.86[GIH][hapmap]
rs3731749	0.89[GIH][hapmap]
rs3769864	0.80[TSI][hapmap]
rs3829747	0.89[GIH][hapmap]
rs3829748	0.89[GIH][hapmap]
rs4894029	0.80[TSI][hapmap]
rs4894044	0.81[JPT][hapmap]
rs62178972	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62178975	0.82[ASN][1000 genomes]
rs62178977	0.83[ASN][1000 genomes]
rs62178978	0.82[ASN][1000 genomes]
rs6750145	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6755456	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs744426	0.89[GIH][hapmap]
rs890578	0.84[TSI][hapmap]

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	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv933940	chr2:179547749-179548286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179528400-179563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:179529600-179600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:179534400-179556200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:179534400-179576200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179538400-179591800	Weak transcription	Fetal Thymus	thymus
10	chr2:179540400-179586800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:179542000-179559000	Strong transcription	Fetal Heart	heart
12	chr2:179542200-179561200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:179542600-179551400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:179542600-179577000	Weak transcription	Right Ventricle	heart
15	chr2:179543200-179583400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:179543400-179596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:179543800-179552600	Strong transcription	Primary B cells from cord blood	blood
18	chr2:179544400-179550600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:179544800-179548000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:179544800-179579600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:179545000-179551400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:179545200-179548800	Weak transcription	Left Ventricle	heart
23	chr2:179545600-179549000	Weak transcription	Psoas Muscle	Psoas
24	chr2:179545800-179551000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:179545800-179558800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:179545800-179586800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:179546200-179548800	Weak transcription	HSMMtube	muscle
28	chr2:179547400-179549800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:179547600-179548000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:179547600-179553000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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