Variant report

Variant	rs12974983
Chromosome Location	chr19:35671195-35671196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10401279	0.81[ASN][1000 genomes]
rs10426303	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12974760	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12983394	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34677175	0.82[AMR][1000 genomes]
rs34998055	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35921432	0.82[AMR][1000 genomes]
rs4239580	0.86[AMR][1000 genomes]
rs61192962	0.82[AMR][1000 genomes]
rs8103035	0.81[ASN][1000 genomes]
rs8108988	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv516540	chr19:35660450-35685536	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv817831	chr19:35661787-35673243	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv579368	chr19:35661787-35680002	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv579377	chr19:35662257-35673243	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12974983	FXYD5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:35669600-35671600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:35669800-35672000	Enhancers	Primary T cells from cord blood	blood
5	chr19:35669800-35672200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:35669800-35672400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:35669800-35672400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:35670000-35671800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr19:35670000-35671800	Enhancers	Fetal Thymus	thymus
10	chr19:35670200-35671800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:35670200-35671800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:35670400-35671200	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:35670400-35671600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:35670400-35671800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:35670800-35672000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:35671000-35671200	Enhancers	Thymus	Thymus
17	chr19:35671000-35672200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	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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