Variant report

Variant	rs4318395
Chromosome Location	chr2:112915130-112915131
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	CEBPB	chr2:112915090-112915436	IMR90	lung:	n/a	chr2:112915256-112915267
2	CEBPB	chr2:112915076-112915391	HepG2	liver:	n/a	chr2:112915256-112915267
3	CEBPB	chr2:112915060-112915435	K562	blood:	n/a	chr2:112915256-112915267
4	CEBPB	chr2:112915105-112915410	K562	blood:	n/a	chr2:112915256-112915267
5	CEBPB	chr2:112915061-112915461	MCF-7	breast:	n/a	chr2:112915256-112915267
6	CEBPB	chr2:112915076-112915420	A549	lung:	n/a	chr2:112915256-112915267

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112912607..112915274-chr2:112919768..112922184,2	K562	blood:

Variant related genes	Relation type
FBLN7	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10189625	0.84[JPT][hapmap]
rs10197919	0.84[JPT][hapmap]
rs11123128	0.84[JPT][hapmap]
rs11675443	0.84[JPT][hapmap]
rs11677075	0.88[ASN][1000 genomes]
rs11682629	1.00[YRI][hapmap]
rs11684321	0.80[CEU][hapmap]
rs11685190	1.00[YRI][hapmap]
rs12185740	0.86[ASN][1000 genomes]
rs13001162	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs13003919	1.00[YRI][hapmap]
rs13020304	1.00[YRI][hapmap]
rs1320360	0.84[JPT][hapmap]
rs13400421	0.96[ASN][1000 genomes]
rs2872109	0.96[ASN][1000 genomes]
rs4848272	0.84[JPT][hapmap]
rs4848971	0.81[CEU][hapmap]
rs4848973	0.81[CEU][hapmap]
rs4848980	0.81[CEU][hapmap]
rs4849046	0.84[JPT][hapmap]
rs4849048	0.84[JPT][hapmap]
rs62157841	0.88[ASN][1000 genomes]
rs6542041	0.84[JPT][hapmap]
rs6755850	0.84[JPT][hapmap]
rs7349410	0.99[ASN][1000 genomes]
rs7571942	0.84[JPT][hapmap]
rs7593053	0.84[JPT][hapmap]
rs7607362	0.84[JPT][hapmap]
rs9917306	0.87[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	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	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
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4318395	MERTK	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
3	chr2:112907200-112920400	Weak transcription	Right Atrium	heart
4	chr2:112912000-112915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:112913000-112915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:112913200-112915200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:112913400-112922400	Weak transcription	Fetal Stomach	stomach
9	chr2:112913800-112918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:112913800-112923800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:112914000-112915200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:112914000-112915200	Enhancers	HMEC	breast
13	chr2:112914200-112915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:112914200-112915400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:112914200-112916800	Weak transcription	HSMM	muscle
16	chr2:112914200-112918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:112914400-112915200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:112914400-112915400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:112914400-112915400	Enhancers	Osteobl	bone
20	chr2:112914400-112921000	Weak transcription	HSMMtube	muscle
21	chr2:112914600-112915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:112914600-112916600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:112914600-112916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:112914600-112917000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:112914600-112917000	Weak transcription	Spleen	Spleen
26	chr2:112914600-112918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:112914600-112918400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:112914600-112918600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:112914600-112918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:112914600-112919000	Weak transcription	Thymus	Thymus
31	chr2:112914600-112921000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:112915000-112915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:112915000-112916800	Weak transcription	Primary B cells from peripheral blood	blood

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