Variant report

Variant	rs7602030
Chromosome Location	chr2:111795509-111795510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17481486	0.91[CEU][hapmap]
rs3789071	0.87[CEU][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap]
rs3789090	0.88[CEU][hapmap]
rs4849345	0.92[AFR][1000 genomes]
rs61092429	0.90[AFR][1000 genomes]
rs62163297	0.92[AFR][1000 genomes]
rs62163299	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62163300	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6713744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6717763	0.90[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7563010	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7603798	0.88[CEU][hapmap]
rs7604244	0.83[CEU][hapmap];0.85[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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2762272	chr2:111794388-111797920	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111786000-111795800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:111787400-111795600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:111787800-111825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:111788200-111799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:111790800-111799200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:111790800-111800200	Weak transcription	Spleen	Spleen
7	chr2:111791200-111795600	Weak transcription	Gastric	stomach
8	chr2:111791200-111795800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:111792400-111796600	Weak transcription	Fetal Lung	lung
10	chr2:111792400-111797200	Weak transcription	Fetal Heart	heart
11	chr2:111792800-111797200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:111792800-111801600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:111793000-111796600	Weak transcription	Fetal Kidney	kidney
14	chr2:111793400-111796000	Enhancers	Primary B cells from cord blood	blood
15	chr2:111793400-111796000	Enhancers	Fetal Thymus	thymus
16	chr2:111794600-111798600	Enhancers	Primary T cells from cord blood	blood
17	chr2:111795200-111795600	Bivalent Enhancer	GM12878-XiMat	blood
18	chr2:111795400-111800000	Weak transcription	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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