Variant report

Variant	rs10174680
Chromosome Location	chr2:112891793-112891794
allele	A/G
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	UBTF	chr2:112891776-112891801	K562	blood:	n/a	n/a
2	RCOR1	chr2:112891107-112891934	HepG2	liver:	n/a	n/a
3	MAZ	chr2:112891461-112891956	HepG2	liver:	n/a	n/a
4	RXRA	chr2:112891728-112892103	HepG2	liver:	n/a	n/a
5	HNF4A	chr2:112891696-112891993	HepG2	liver:	n/a	chr2:112891879-112891894 chr2:112891880-112891893 chr2:112891879-112891887 chr2:112891880-112891894 chr2:112891881-112891893 chr2:112891879-112891894 chr2:112891881-112891893 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891880-112891888
6	ARID3A	chr2:112891743-112892045	HepG2	liver:	n/a	n/a
7	SMC3	chr2:112891523-112892012	HepG2	liver:	n/a	n/a
8	HNF4A	chr2:112891773-112892112	HepG2	liver:	n/a	chr2:112891879-112891894 chr2:112891880-112891893 chr2:112891879-112891887 chr2:112891880-112891894 chr2:112891881-112891893 chr2:112891879-112891894 chr2:112891881-112891893 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891879-112891894 chr2:112891880-112891888
9	FOXA1	chr2:112891656-112892151	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112890859..112893209-chr2:112893604..112895131,2	MCF-7	breast:
2	chr2:112890338..112892792-chr2:112906621..112908750,2	MCF-7	breast:

Variant related genes	Relation type
FBLN7	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10084408	1.00[GIH][hapmap]
rs10165614	1.00[GIH][hapmap]
rs10166396	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10180086	1.00[GIH][hapmap]
rs10181117	1.00[GIH][hapmap]
rs10182451	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10185224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10185747	1.00[GIH][hapmap]
rs10190845	1.00[ASN][1000 genomes]
rs10201778	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10202871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205793	1.00[GIH][hapmap]
rs10206255	1.00[GIH][hapmap]
rs10211152	1.00[GIH][hapmap]
rs12328678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1317633	1.00[ASN][1000 genomes]
rs13387346	1.00[GIH][hapmap]
rs13402707	1.00[GIH][hapmap]
rs13404771	1.00[GIH][hapmap]
rs13418394	1.00[GIH][hapmap]
rs13422534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432863	1.00[GIH][hapmap]
rs17041977	1.00[ASN][1000 genomes]
rs2230517	1.00[GIH][hapmap]
rs2312695	1.00[ASN][1000 genomes]
rs35586251	1.00[ASN][1000 genomes]
rs4849052	1.00[ASN][1000 genomes]
rs55958600	1.00[ASN][1000 genomes]
rs56090586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166956	1.00[ASN][1000 genomes]
rs56371451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66470738	1.00[ASN][1000 genomes]
rs6723394	1.00[GIH][hapmap]
rs72829697	1.00[ASN][1000 genomes]
rs72831604	1.00[ASN][1000 genomes]
rs72831605	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831609	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831611	1.00[ASN][1000 genomes]
rs72831613	1.00[ASN][1000 genomes]
rs72831616	1.00[ASN][1000 genomes]
rs72831617	1.00[ASN][1000 genomes]
rs72831618	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10174680	MERTK	cis	lymphoblastoid	seeQTL
rs10174680	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112870400-112895000	Weak transcription	HMEC	breast
2	chr2:112870400-112895200	Weak transcription	Gastric	stomach
3	chr2:112876000-112893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:112876000-112895000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:112876000-112895000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:112876000-112895000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:112880400-112893400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:112880400-112895000	Weak transcription	Pancreas	Pancrea
9	chr2:112881400-112895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:112890600-112895400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:112890800-112895000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:112891600-112891800	Enhancers	HepG2	liver
13	chr2:112891600-112892200	Enhancers	Liver	Liver
14	chr2:112891600-112894800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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