Variant report

Variant	rs4544390
Chromosome Location	chr2:187321919-187321920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10194631	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10200873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209563	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10209572	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10804005	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931247	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11685403	0.82[ASN][1000 genomes]
rs11891731	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12693453	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1372649	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1375124	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1375323	0.82[ASN][1000 genomes]
rs16827719	0.82[ASN][1000 genomes]
rs1868384	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083678	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2099849	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2119861	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119863	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2370663	0.82[ASN][1000 genomes]
rs4144784	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4365424	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770081	0.82[ASN][1000 genomes]
rs57092996	0.82[ASN][1000 genomes]
rs57995640	0.82[ASN][1000 genomes]
rs58300265	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59376280	0.82[ASN][1000 genomes]
rs60201574	0.81[ASN][1000 genomes]
rs6434188	0.82[CHB][hapmap]
rs66647013	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717629	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6717871	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6741214	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs719071	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs719072	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs72895450	0.87[EUR][1000 genomes]
rs72897347	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035219	0.82[ASN][1000 genomes]
rs73035226	0.82[ASN][1000 genomes]
rs73035248	0.82[ASN][1000 genomes]
rs73035254	0.82[ASN][1000 genomes]
rs73035266	0.82[ASN][1000 genomes]
rs73035270	0.82[ASN][1000 genomes]
rs73035271	0.82[ASN][1000 genomes]
rs7577962	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7588772	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187293800-187322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:187297800-187331200	Weak transcription	Left Ventricle	heart
3	chr2:187299600-187322800	Weak transcription	Aorta	Aorta
4	chr2:187301400-187322600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:187301600-187322600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:187302200-187323200	Weak transcription	Ovary	ovary
7	chr2:187303800-187323000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:187304600-187322800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:187308000-187323800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:187308400-187322800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:187308800-187323000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:187309400-187322600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:187313400-187322800	Weak transcription	Psoas Muscle	Psoas
14	chr2:187313600-187327000	Weak transcription	Pancreas	Pancrea
15	chr2:187315200-187322800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:187315600-187330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:187315800-187322800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:187316200-187322800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:187317000-187323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:187317200-187322400	Weak transcription	Spleen	Spleen
21	chr2:187317800-187323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:187318000-187322800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:187318200-187322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:187318200-187323200	Weak transcription	Fetal Kidney	kidney
25	chr2:187319400-187322800	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187319600-187323000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:187319800-187323000	Weak transcription	HSMM	muscle
28	chr2:187320200-187322000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:187320600-187323000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:187320600-187347400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:187320800-187325200	Weak transcription	Liver	Liver
32	chr2:187321000-187323000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:187321200-187323000	Enhancers	HMEC	breast
34	chr2:187321200-187328800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:187321400-187322000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:187321400-187322400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:187321400-187322400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:187321400-187322600	Weak transcription	Dnd41	blood
39	chr2:187321400-187322800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:187321400-187322800	Enhancers	Osteobl	bone
41	chr2:187321400-187323000	Enhancers	NH-A	brain
42	chr2:187321400-187325200	Weak transcription	HepG2	liver
43	chr2:187321600-187323400	Weak transcription	Primary B cells from peripheral blood	blood

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