Variant report

Variant	rs6713344
Chromosome Location	chr2:112814045-112814046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
2	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
3	chr2:112812169..112814441-chr2:113238418..113240950,3	K562	blood:
4	chr2:112640495..112643597-chr2:112811494..112814256,4	K562	blood:
5	chr2:112687076..112688579-chr2:112812009..112814430,2	MCF-7	breast:
6	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
7	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
8	chr2:112813790..112815365-chr2:112920509..112922091,2	K562	blood:
9	chr1:231004196..231004880-chr2:112813757..112814547,2	Hela-S3	cervix:
10	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
11	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
12	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:
13	chr2:112811397..112814190-chr2:113032583..113035282,3	K562	blood:
14	chr2:112640258..112642885-chr2:112811655..112814153,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240183	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000153208	Chromatin interaction
ENSG00000119280	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000184752	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10171979	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10207726	0.80[GIH][hapmap]
rs1113419	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs11691431	1.00[LWK][hapmap]
rs11884641	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap]
rs11884693	0.85[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap]
rs12469210	0.90[CEU][hapmap]
rs12469847	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12474039	0.90[CEU][hapmap]
rs12477716	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs1400321	0.89[CEU][hapmap]
rs1400324	0.90[CEU][hapmap]
rs1400325	0.90[CEU][hapmap]
rs1516629	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs17174870	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs17175275	0.90[CEU][hapmap]
rs17175331	0.90[CEU][hapmap]
rs17835605	0.85[CEU][hapmap]
rs3811632	0.80[GIH][hapmap]
rs3811640	0.82[GIH][hapmap]
rs4078410	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4278932	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap]
rs4434006	0.90[CEU][hapmap]
rs4491736	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4528767	0.90[CEU][hapmap]
rs4567941	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4613287	0.82[CHB][hapmap]
rs4848262	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4848978	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55812028	0.82[ASN][1000 genomes]
rs6710733	0.90[CEU][hapmap]
rs6712080	0.90[CEU][hapmap]
rs6718840	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6730521	0.90[CEU][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap]
rs6737707	1.00[CHB][hapmap]
rs6737989	0.90[CEU][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap]
rs6738237	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6760032	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7563113	0.90[CEU][hapmap]
rs7568632	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7570077	0.81[AMR][1000 genomes]
rs7581849	0.82[CHB][hapmap]
rs7595574	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs867311	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs9308665	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9308666	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
10	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
11	esv3409074	chr2:112811506-112814054	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6713344	MERTK	cis	multi-tissue	Pritchard
rs6713344	IL1RN	cis	cerebellum	SCAN
rs6713344	CFP	trans	parietal	SCAN
rs6713344	PSD4	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112811200-112814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:112811200-112814200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:112811200-112814200	Active TSS	A549	lung
4	chr2:112811400-112814200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:112811400-112814200	Active TSS	Psoas Muscle	Psoas
6	chr2:112811400-112814400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:112811400-112814400	Active TSS	Ovary	ovary
8	chr2:112811400-112814600	Active TSS	Left Ventricle	heart
9	chr2:112811400-112814800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:112811400-112814800	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:112811400-112814800	Active TSS	HSMMtube	muscle
12	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:112811600-112814200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:112811600-112814200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:112811600-112814200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:112811600-112814200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:112811600-112814200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:112811600-112814200	Active TSS	Esophagus	oesophagus
19	chr2:112811600-112814400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:112811600-112814600	Active TSS	Right Ventricle	heart
21	chr2:112811600-112814800	Active TSS	Fetal Kidney	kidney
22	chr2:112811800-112814200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:112811800-112814200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:112811800-112814200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:112811800-112814200	Active TSS	Fetal Intestine Large	intestine
26	chr2:112811800-112814200	Active TSS	Fetal Intestine Small	intestine
27	chr2:112811800-112814200	Active TSS	Fetal Lung	lung
28	chr2:112811800-112814200	Active TSS	Gastric	stomach
29	chr2:112811800-112814200	Active TSS	Lung	lung
30	chr2:112811800-112814200	Active TSS	Pancreas	Pancrea
31	chr2:112811800-112814200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:112811800-112814200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:112811800-112814200	Active TSS	HMEC	breast
34	chr2:112811800-112814200	Active TSS	NH-A	brain
35	chr2:112811800-112814400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr2:112811800-112814400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:112811800-112814400	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:112811800-112814400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:112811800-112814400	Active TSS	NHDF-Ad	bronchial
40	chr2:112811800-112814600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:112811800-112814600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:112811800-112814600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:112811800-112814600	Active TSS	Colonic Mucosa	Colon
44	chr2:112811800-112814800	Active TSS	NHLF	lung
45	chr2:112812800-112814200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr2:112812800-112814200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:112812800-112814400	Active TSS	Aorta	Aorta
48	chr2:112812800-112815200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:112813000-112814200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:112813000-112814800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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