Variant report

Variant	rs4144823
Chromosome Location	chr2:187294307-187294308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1026118	0.86[JPT][hapmap]
rs10931241	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12622084	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12993773	0.83[JPT][hapmap]
rs1376781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1597244	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16827774	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs16827790	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16827800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2029085	0.81[ASN][1000 genomes]
rs3107176	0.80[ASN][1000 genomes]
rs3754582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4606885	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667100	0.82[JPT][hapmap]
rs57550664	0.81[ASN][1000 genomes]
rs59228985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61538288	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62198657	0.84[ASN][1000 genomes]
rs72893443	0.81[ASN][1000 genomes]
rs72893458	0.81[ASN][1000 genomes]
rs72893482	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72895425	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72895447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72895498	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72897378	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561955	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9636305	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1005680	chr2:187244500-187320653	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536080	chr2:187244500-187320653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1001927	chr2:187264940-187325667	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv997835	chr2:187265730-187327561	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv536081	chr2:187265730-187327561	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187279800-187300600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:187282400-187299200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:187287200-187300800	Weak transcription	Ovary	ovary
4	chr2:187287400-187298000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:187288600-187301200	Weak transcription	Gastric	stomach
6	chr2:187289200-187300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:187290200-187298200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:187290600-187304200	Weak transcription	Stomach Mucosa	stomach
9	chr2:187291400-187296600	Weak transcription	Fetal Stomach	stomach
10	chr2:187291600-187296400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:187291600-187298800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:187291800-187299200	Weak transcription	Primary B cells from cord blood	blood
13	chr2:187291800-187300400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:187291800-187301800	Weak transcription	GM12878-XiMat	blood
15	chr2:187292000-187298400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:187292000-187301200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:187292400-187299000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:187292400-187299000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:187292600-187299200	Weak transcription	Dnd41	blood
20	chr2:187293000-187294800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:187293000-187300400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:187293000-187304400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:187293200-187294400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:187293200-187299200	Weak transcription	HepG2	liver
25	chr2:187293200-187302600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:187293400-187297800	Weak transcription	Liver	Liver
27	chr2:187293600-187298000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:187293800-187322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:187294000-187294400	Enhancers	NHDF-Ad	bronchial
30	chr2:187294200-187301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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