Variant report

Variant	rs1431718
Chromosome Location	chr1:239879553-239879554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:239879435..239880119-chr1:240167119..240168101,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10802794	0.88[MEX][hapmap]
rs10925956	0.92[ASN][1000 genomes]
rs1155612	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12403980	0.87[ASN][1000 genomes]
rs12406493	0.87[ASN][1000 genomes]
rs1431721	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2355210	0.92[ASN][1000 genomes]
rs2355237	0.88[ASN][1000 genomes]
rs2883621	0.89[ASN][1000 genomes]
rs55973901	0.85[ASN][1000 genomes]
rs56266008	1.00[ASN][1000 genomes]
rs61834818	0.84[ASN][1000 genomes]
rs6429152	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6429153	0.86[ASN][1000 genomes]
rs6657343	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6688537	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6688548	0.87[ASN][1000 genomes]
rs6694220	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs714266	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717227	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.92[ASN][1000 genomes]
rs7551919	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891700	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.92[ASN][1000 genomes]
rs961065	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs988231	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1431718	RBM34	cis	parietal	SCAN
rs1431718	C9orf46	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239845000-239879800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:239868800-239880400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:239869000-239880800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:239870200-239882400	Weak transcription	Pancreas	Pancrea
5	chr1:239870200-239883000	Weak transcription	Fetal Brain Male	brain
6	chr1:239870200-239883000	Weak transcription	Gastric	stomach
7	chr1:239871600-239880600	Weak transcription	Thymus	Thymus
8	chr1:239875400-239890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:239875600-239880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:239876800-239880200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:239877000-239880000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:239877000-239880800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:239877800-239879600	Weak transcription	Fetal Thymus	thymus
14	chr1:239877800-239881200	Enhancers	Stomach Mucosa	stomach
15	chr1:239878000-239879600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:239878200-239880600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:239878200-239880600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:239878200-239891000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:239878800-239880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:239878800-239880400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:239878800-239881800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr1:239879000-239880400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:239879000-239880400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:239879000-239880400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:239879000-239880800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:239879000-239881000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:239879000-239881400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:239879000-239882200	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:239879400-239879800	Weak transcription	Fetal Lung	lung
30	chr1:239879400-239880000	Enhancers	Dnd41	blood
31	chr1:239879400-239880400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:239879400-239881200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:239879400-239881600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr1:239879400-239882800	Enhancers	Primary monocytes fromperipheralblood	blood

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