Variant report

Variant	rs4613287
Chromosome Location	chr2:112844091-112844092
allele	C/T
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	MAFK	chr2:112843865-112844224	HepG2	liver:	n/a	chr2:112844043-112844059 chr2:112844043-112844058 chr2:112844048-112844059 chr2:112844048-112844059
2	MAFK	chr2:112843882-112844206	K562	blood:	n/a	chr2:112844043-112844059 chr2:112844043-112844058 chr2:112844048-112844059 chr2:112844048-112844059
3	MAFK	chr2:112843920-112844111	Hela-S3	cervix:	n/a	chr2:112844043-112844059 chr2:112844043-112844058 chr2:112844048-112844059 chr2:112844048-112844059
4	RELA	chr2:112844064-112845823	GM12891	blood:	n/a	n/a
5	MAFK	chr2:112843890-112844218	IMR90	lung:	n/a	chr2:112844043-112844059 chr2:112844043-112844058 chr2:112844048-112844059 chr2:112844048-112844059
6	MAFK	chr2:112843877-112844229	HepG2	liver:	n/a	chr2:112844043-112844059 chr2:112844043-112844058 chr2:112844048-112844059 chr2:112844048-112844059
7	MAFF	chr2:112843889-112844180	K562	blood:	n/a	chr2:112844042-112844060
8	MAFF	chr2:112843874-112844227	HepG2	liver:	n/a	chr2:112844042-112844060

Variant related genes	Relation type
TMEM87B	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10165845	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs10175143	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10182333	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs1045300	0.90[JPT][hapmap]
rs10864898	0.85[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap]
rs4241121	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs4257409	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs4491736	1.00[CHB][hapmap]
rs4848978	1.00[CHB][hapmap]
rs4848993	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs4849007	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4849030	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707397	0.85[CHD][hapmap]
rs6708896	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6713344	0.82[CHB][hapmap]
rs6737707	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7581849	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591702	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs7595574	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs9308669	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs9653401	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs9653422	0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]

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	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4613287	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:112820400-112847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:112821400-112849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:112822200-112854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:112823600-112844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:112829600-112850400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:112829800-112844200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:112831000-112849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:112831800-112850800	Strong transcription	Placenta	Placenta
14	chr2:112832000-112866000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:112833600-112845200	Weak transcription	A549	lung
16	chr2:112833600-112855800	Weak transcription	Hela-S3	cervix
17	chr2:112833800-112844200	Strong transcription	GM12878-XiMat	blood
18	chr2:112833800-112849600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:112834200-112845200	Weak transcription	Stomach Mucosa	stomach
20	chr2:112834600-112844600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:112834800-112849200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:112834800-112852200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:112835200-112844200	Strong transcription	Primary B cells from cord blood	blood
25	chr2:112835200-112844800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:112835200-112849000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:112835200-112851000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:112835200-112851000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:112835200-112852200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:112835600-112850600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:112835800-112849400	Strong transcription	HSMM	muscle
32	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:112836000-112848400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:112838000-112849200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:112838000-112850400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:112838200-112845600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:112838200-112846600	Strong transcription	HUVEC	blood vessel
39	chr2:112838200-112847600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:112838200-112847600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:112838200-112847800	Strong transcription	HMEC	breast
42	chr2:112838200-112848200	Strong transcription	Osteobl	bone
43	chr2:112838200-112848600	Strong transcription	NH-A	brain
44	chr2:112838200-112851200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:112838200-112851200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:112838200-112851400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:112838200-112866200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:112838200-112866400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:112838400-112847800	Strong transcription	NHEK	skin
50	chr2:112838400-112849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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