Variant report

Variant	rs60697711
Chromosome Location	chr19:36404020-36404021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10221461	0.90[AFR][1000 genomes]
rs56132631	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57740310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785375	1.00[EUR][1000 genomes]
rs60892678	0.85[AFR][1000 genomes]
rs7249567	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7251422	0.90[AFR][1000 genomes]
rs7252053	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7254298	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7254905	1.00[EUR][1000 genomes]
rs7254994	1.00[EUR][1000 genomes]
rs7255824	0.94[AFR][1000 genomes]
rs7259892	1.00[EUR][1000 genomes]
rs73928350	1.00[EUR][1000 genomes]
rs73928352	1.00[EUR][1000 genomes]
rs73928355	1.00[EUR][1000 genomes]
rs73928368	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:36400800-36404600	Enhancers	GM12878-XiMat	blood
3	chr19:36400800-36406800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:36400800-36407600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:36400800-36413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36401000-36405800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:36402400-36404600	Weak transcription	Osteobl	bone
8	chr19:36403000-36404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:36403000-36404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:36403000-36413400	Weak transcription	Spleen	Spleen
11	chr19:36403200-36404200	Weak transcription	Primary B cells from cord blood	blood
12	chr19:36403200-36404400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:36403200-36404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:36403200-36404600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:36403200-36404600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:36403200-36404600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:36403200-36405600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr19:36403800-36405400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:36404000-36404200	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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