Variant report

Variant	rs1891018
Chromosome Location	chr1:161691366-161691367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:161691341-161691663	K562	blood:	n/a	n/a
2	POLR2A	chr1:161691330-161692217	U87	brain:	n/a	n/a
3	NR2F2	chr1:161691366-161692552	K562	blood:	n/a	n/a
4	JUN	chr1:161690735-161692723	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
5	JUND	chr1:161691320-161692233	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
6	MAZ	chr1:161691280-161692433	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:161691324-161692217	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161679981..161681633-chr1:161691027..161692726,2	MCF-7	breast:

Variant related genes	Relation type
FCRLB	TF binding region
ENSG00000132185	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1538972	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs16852851	1.00[CHB][hapmap]
rs2089084	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35541527	1.00[CHB][hapmap]
rs4532807	1.00[CHB][hapmap]
rs4996823	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6427622	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74125005	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs905593	1.00[CHB][hapmap]
rs953301	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1891018	DARC	cis	cerebellum	SCAN
rs1891018	FCRLA	Cis_1M	lymphoblastoid	RTeQTL
rs1891018	SLAMF1	cis	parietal	SCAN
rs1891018	ATF6	Cis_1M	lymphoblastoid	RTeQTL
rs1891018	CD1E	cis	cerebellum	SCAN
rs1891018	TIE1	trans	parietal	SCAN
rs1891018	FCGR2C	cis	lymphoblastoid	seeQTL
rs1891018	C1orf61	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161688800-161691400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:161689000-161692400	Enhancers	Primary B cells from cord blood	blood
4	chr1:161689000-161692600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr1:161689000-161695400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:161689400-161691400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
8	chr1:161689400-161692600	Enhancers	GM12878-XiMat	blood
9	chr1:161689400-161692800	Enhancers	NHDF-Ad	bronchial
10	chr1:161689600-161691400	Enhancers	K562	blood
11	chr1:161689600-161691600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:161689800-161692600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:161690600-161691600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:161690800-161691800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:161690800-161692600	Enhancers	HSMM	muscle
16	chr1:161690800-161692600	Enhancers	HSMMtube	muscle
17	chr1:161690800-161692800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:161691000-161692200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:161691000-161692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:161691000-161692400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:161691000-161692400	Enhancers	NH-A	brain
22	chr1:161691000-161692600	Enhancers	NHLF	lung
23	chr1:161691000-161692600	Enhancers	Osteobl	bone
24	chr1:161691200-161692600	Enhancers	Muscle Satellite Cultured Cells	--

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