Variant report

Variant	rs35287851
Chromosome Location	chr19:42441795-42441796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42389824..42391780-chr19:42439808..42442241,2	K562	blood:
2	chr19:42389226..42390893-chr19:42441627..42443907,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1075728	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12977527	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35009020	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35287851	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs35287851	RABAC1	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42433600-42444000	Weak transcription	Right Atrium	heart
2	chr19:42437800-42442600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:42437800-42442600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:42438200-42441800	Enhancers	K562	blood
5	chr19:42439600-42444000	Weak transcription	Spleen	Spleen
6	chr19:42439800-42442000	Weak transcription	Primary B cells from cord blood	blood
7	chr19:42439800-42443600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr19:42439800-42443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:42439800-42444600	Weak transcription	Gastric	stomach
10	chr19:42440400-42442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:42440600-42441800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:42440600-42442000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42440600-42442200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:42440600-42442200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:42440800-42442000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:42441000-42442200	Weak transcription	GM12878-XiMat	blood
17	chr19:42441000-42444000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:42441200-42442000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:42441200-42442200	Enhancers	Osteobl	bone
20	chr19:42441200-42444000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:42441400-42441800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:42441400-42442400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:42441400-42442600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr19:42441400-42443800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:42441400-42444000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:42441400-42444000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:42441600-42441800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:42441600-42441800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:42441600-42441800	Enhancers	A549	lung
30	chr19:42441600-42442600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:42441600-42443800	Enhancers	Primary B cells from peripheral blood	blood
32	chr19:42441600-42443800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:42441600-42444000	Weak transcription	HSMM	muscle

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