Variant report

Variant	rs1320359
Chromosome Location	chr2:112920343-112920344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112918762..112920499-chr2:112996801..112999221,2	MCF-7	breast:
2	chr2:112912607..112915274-chr2:112919768..112922184,2	K562	blood:
3	chr2:112919340..112921922-chr2:112924390..112926639,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10189625	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10197919	0.82[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap]
rs10200201	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12711734	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1320360	0.85[JPT][hapmap]
rs13419623	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4318395	0.84[JPT][hapmap]
rs4848279	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4849046	0.85[JPT][hapmap];0.85[TSI][hapmap]
rs4849047	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849048	0.82[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542041	0.85[JPT][hapmap];0.85[TSI][hapmap]
rs6755850	0.85[JPT][hapmap];0.85[TSI][hapmap]
rs7571942	0.85[JPT][hapmap];0.85[TSI][hapmap]
rs7593053	0.85[JPT][hapmap];0.85[TSI][hapmap]
rs7607362	0.85[JPT][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1320359	MERTK	cis	multi-tissue	Pritchard
rs1320359	POLR1B	cis	parietal	SCAN
rs1320359	FBLN7	cis	cerebellum	SCAN
rs1320359	POLR1B	cis	cerebellum	SCAN

Chromatin state (count:24 , 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	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:112913400-112922400	Weak transcription	Fetal Stomach	stomach
6	chr2:112913800-112923800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:112914400-112921000	Weak transcription	HSMMtube	muscle
8	chr2:112914600-112921000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:112915200-112921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:112917400-112925600	Weak transcription	Spleen	Spleen
12	chr2:112918400-112939200	Weak transcription	Gastric	stomach
13	chr2:112918600-112920800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:112918600-112923000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:112918600-112939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:112918800-112920400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:112919000-112939000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:112919200-112921000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:112919200-112921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:112919600-112933400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:112919800-112924200	Weak transcription	Fetal Thymus	thymus
22	chr2:112919800-112933200	Weak transcription	Thymus	Thymus
23	chr2:112920200-112920600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:112920200-112926000	Weak transcription	Fetal Muscle Leg	muscle

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