Variant report

Variant	rs7246830
Chromosome Location	chr19:42449187-42449188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42433284..42435979-chr19:42448228..42450918,2	K562	blood:
2	chr19:42442283..42443915-chr19:42447913..42450838,2	K562	blood:
3	chr19:42444603..42447470-chr19:42448385..42450596,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409822	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10411814	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10416501	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10419731	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420264	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10424013	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083642	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11665965	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11667048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11668332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11669448	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11878287	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12971376	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972751	0.84[ASN][1000 genomes]
rs12975677	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1864207	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1965727	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081999	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3745223	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3826707	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61007366	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247727	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7253563	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs735571	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8109192	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919390	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9304600	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9676662	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9749440	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7246830	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42444200-42449600	Weak transcription	Spleen	Spleen
2	chr19:42444800-42455600	Weak transcription	K562	blood
3	chr19:42445000-42452000	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:42445200-42461000	Weak transcription	Small Intestine	intestine
5	chr19:42445400-42449400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:42445400-42459600	Weak transcription	Gastric	stomach
7	chr19:42445400-42460200	Weak transcription	Pancreas	Pancrea
8	chr19:42445600-42449400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:42445600-42449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:42445600-42449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:42445600-42450000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:42445600-42455600	Weak transcription	Right Ventricle	heart
13	chr19:42445600-42462400	Weak transcription	Right Atrium	heart
14	chr19:42446000-42450400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:42446200-42459800	Weak transcription	Aorta	Aorta
16	chr19:42447600-42455800	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:42448000-42451600	Enhancers	Primary B cells from cord blood	blood
18	chr19:42448000-42452000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:42448000-42452600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42448200-42449800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr19:42448400-42449800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:42448400-42451200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr19:42448400-42451400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:42448400-42451800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:42448600-42449200	Flanking Active TSS	GM12878-XiMat	blood
26	chr19:42448600-42449400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:42448600-42449600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:42448600-42449800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:42448600-42451000	Enhancers	Fetal Thymus	thymus
30	chr19:42448600-42451400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:42448600-42451800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:42448600-42451800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:42448800-42450800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:42448800-42451200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:42449000-42452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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