Variant report

Variant	rs2230517
Chromosome Location	chr2:112786049-112786050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112784747..112789219-chr2:112793429..112796621,4	K562	blood:
2	chr2:112775542..112777952-chr2:112785782..112788260,2	K562	blood:
3	chr2:112736525..112738819-chr2:112785215..112787160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10084408	1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs10165614	1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs10165940	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10168067	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10174680	1.00[GIH][hapmap]
rs10175344	0.90[EUR][1000 genomes]
rs10179948	1.00[CHD][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes]
rs10180086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10181117	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes]
rs10182764	0.90[EUR][1000 genomes]
rs10182931	0.90[EUR][1000 genomes]
rs10185747	1.00[GIH][hapmap];0.90[TSI][hapmap]
rs10190471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10198007	1.00[AMR][1000 genomes]
rs10205067	1.00[CHD][hapmap]
rs10205793	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206255	1.00[GIH][hapmap]
rs10209260	1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]
rs10211152	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13313775	0.90[EUR][1000 genomes]
rs13383743	0.90[EUR][1000 genomes]
rs13387346	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13394094	0.90[EUR][1000 genomes]
rs13396030	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13397194	1.00[AMR][1000 genomes]
rs13401834	1.00[AMR][1000 genomes]
rs13402707	1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404771	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[AMR][1000 genomes]
rs13406390	1.00[CHD][hapmap]
rs13411851	0.90[EUR][1000 genomes]
rs13416895	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13418394	1.00[GIH][hapmap]
rs13419523	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes]
rs13421261	0.90[EUR][1000 genomes]
rs13430221	1.00[AMR][1000 genomes]
rs13432863	1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs28529268	1.00[AMR][1000 genomes]
rs56264210	0.86[AMR][1000 genomes]
rs6723289	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6723394	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755828	0.94[YRI][hapmap];1.00[AFR][1000 genomes]
rs72823495	0.86[AMR][1000 genomes]
rs72825696	0.97[EUR][1000 genomes]
rs72829620	0.90[EUR][1000 genomes]
rs9631022	0.90[EUR][1000 genomes]
rs9631023	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2230517	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112723400-112789200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112733200-112789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:112755400-112789200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:112758200-112789600	Weak transcription	Fetal Kidney	kidney
6	chr2:112765800-112789600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:112768000-112789200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:112768600-112789600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:112769000-112789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:112769000-112789200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:112769200-112788400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:112769200-112789200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:112769600-112791200	Weak transcription	Colonic Mucosa	Colon
14	chr2:112770200-112789400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:112770600-112787600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:112771400-112789000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:112774400-112786400	Strong transcription	Liver	Liver
18	chr2:112774400-112790200	Weak transcription	Right Atrium	heart
19	chr2:112777200-112789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:112777400-112789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:112777600-112788800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:112778800-112787200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:112779400-112787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:112780200-112789800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:112780400-112787600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:112780600-112789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:112781600-112789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:112781600-112789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:112781600-112789200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:112781600-112789200	Weak transcription	Placenta	Placenta
31	chr2:112781600-112790600	Weak transcription	Lung	lung
32	chr2:112782000-112789200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:112782200-112789200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:112782800-112788200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:112783000-112789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:112783000-112790600	Weak transcription	Pancreas	Pancrea
37	chr2:112783200-112787600	Weak transcription	Right Ventricle	heart
38	chr2:112783200-112788200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:112783200-112789000	Weak transcription	Fetal Intestine Large	intestine
40	chr2:112783200-112789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:112783200-112790000	Weak transcription	Spleen	Spleen
42	chr2:112783200-112790600	Weak transcription	Esophagus	oesophagus
43	chr2:112783200-112802200	Weak transcription	Aorta	Aorta
44	chr2:112783400-112789400	Weak transcription	Ovary	ovary
45	chr2:112783600-112789000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:112784200-112786400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:112784200-112789600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:112784400-112786200	Enhancers	K562	blood
49	chr2:112784400-112788000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:112784400-112788800	Weak transcription	Fetal Lung	lung

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