Variant report

Variant	rs2872046
Chromosome Location	chr2:112978890-112978891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112977992..112980458-chr2:113031946..113034092,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10169925	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864902	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343666	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848282	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542047	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760417	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7591379	0.90[EUR][1000 genomes];0.88[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	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
7	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2872046	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112959600-112987000	Weak transcription	Osteobl	bone
2	chr2:112961000-113009000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:112962400-112979000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:112967800-112986600	Weak transcription	NHEK	skin
5	chr2:112967800-112987000	Weak transcription	Aorta	Aorta
6	chr2:112968000-113011800	Weak transcription	Right Ventricle	heart
7	chr2:112968200-112979600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:112968200-112999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:112968200-113004000	Weak transcription	Fetal Brain Male	brain
10	chr2:112968200-113009200	Weak transcription	Small Intestine	intestine
11	chr2:112968200-113012000	Weak transcription	Pancreas	Pancrea
12	chr2:112968400-112981400	Weak transcription	K562	blood
13	chr2:112968400-112986800	Weak transcription	NHDF-Ad	bronchial
14	chr2:112968400-113003800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:112968800-113011400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:112968800-113011800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:112969000-112993000	Weak transcription	Colonic Mucosa	Colon
18	chr2:112969000-113005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:112969200-112992000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:112969400-113011800	Weak transcription	Esophagus	oesophagus
21	chr2:112969600-113009000	Weak transcription	Psoas Muscle	Psoas
22	chr2:112970200-112987600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:112970200-112992600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:112970200-113004800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:112970600-112982400	Weak transcription	NHLF	lung
26	chr2:112970800-112979800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:112970800-113003800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:112970800-113005200	Weak transcription	Gastric	stomach
29	chr2:112970800-113011600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:112971400-113011600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:112971800-113011800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:112973000-112982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:112973000-112987200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:112973200-112979400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:112973200-112979400	Weak transcription	Hela-S3	cervix
36	chr2:112973200-112981200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:112973200-112982200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:112973800-112979000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:112973800-112986400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:112973800-112993000	Weak transcription	HepG2	liver
41	chr2:112974000-112979200	Weak transcription	HSMM	muscle
42	chr2:112974000-112979400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:112974000-112979400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:112974000-112979400	Weak transcription	Fetal Intestine Large	intestine
45	chr2:112974000-112979600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:112974000-112979600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:112974000-112982400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:112974000-112986600	Weak transcription	HMEC	breast
49	chr2:112974000-112987000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:112974000-112990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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