Variant report

Variant	rs2279148
Chromosome Location	chr19:38024683-38024684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1015848	0.86[EUR][1000 genomes]
rs1015849	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs10403173	0.95[CHB][hapmap]
rs10403582	0.84[EUR][1000 genomes]
rs10404031	0.95[CHB][hapmap]
rs10404920	0.93[CEU][hapmap]
rs10404945	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes]
rs10405064	0.93[CEU][hapmap]
rs10405407	0.93[CEU][hapmap]
rs10406177	0.93[CEU][hapmap]
rs10406379	0.95[CHB][hapmap]
rs10407084	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs10408619	0.95[CHB][hapmap];0.87[YRI][hapmap]
rs10409204	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs10411574	0.94[EUR][1000 genomes]
rs10414904	0.94[CEU][hapmap]
rs10415937	0.94[CEU][hapmap]
rs10417503	0.93[CEU][hapmap]
rs10417844	0.93[CEU][hapmap]
rs10420722	0.89[EUR][1000 genomes]
rs10420754	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs10422667	0.86[EUR][1000 genomes]
rs10424574	0.93[CEU][hapmap]
rs10426618	0.86[EUR][1000 genomes]
rs11083426	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12972252	0.86[EUR][1000 genomes]
rs12979470	0.82[EUR][1000 genomes]
rs12979640	0.95[CHB][hapmap]
rs13343471	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs13343502	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs13345116	0.94[CEU][hapmap]
rs1373991	0.93[CEU][hapmap]
rs13744	0.95[CHB][hapmap]
rs1382357	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1559229	0.94[CEU][hapmap]
rs1564208	0.95[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs16958861	0.96[CHB][hapmap]
rs16958863	0.95[CHB][hapmap];0.82[YRI][hapmap]
rs1975937	0.96[CHB][hapmap];0.81[YRI][hapmap]
rs2045908	0.87[EUR][1000 genomes]
rs2081096	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs2112922	0.81[EUR][1000 genomes]
rs2112923	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs2126977	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2279149	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287229	0.95[CHB][hapmap]
rs2291002	0.95[CHB][hapmap]
rs2291004	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs2303131	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs28373708	0.87[EUR][1000 genomes]
rs28538699	0.88[EUR][1000 genomes]
rs28605784	0.85[EUR][1000 genomes]
rs28623164	0.82[EUR][1000 genomes]
rs2891699	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2909088	0.95[CHB][hapmap]
rs2909093	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs2909098	0.95[CHB][hapmap]
rs2909102	0.95[CHB][hapmap]
rs2909105	0.95[CHB][hapmap]
rs2909109	0.95[CHB][hapmap]
rs2927739	0.96[CHB][hapmap];0.84[YRI][hapmap]
rs2927740	0.95[CHB][hapmap]
rs2927747	0.95[CHB][hapmap];0.82[YRI][hapmap]
rs2972437	0.95[CHB][hapmap]
rs2972438	0.95[CHB][hapmap]
rs2972439	0.95[CHB][hapmap]
rs2972447	0.96[CHB][hapmap]
rs2972448	0.95[CHB][hapmap]
rs35540940	0.95[EUR][1000 genomes]
rs35777021	0.84[EUR][1000 genomes]
rs3745765	0.93[CEU][hapmap]
rs3760825	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs3829688	0.95[CHB][hapmap]
rs4417644	0.93[CEU][hapmap]
rs4452075	0.93[CEU][hapmap]
rs4801759	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs4801803	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs4802024	0.95[CHB][hapmap]
rs4802029	0.95[CHB][hapmap];0.81[YRI][hapmap]
rs4802766	0.90[EUR][1000 genomes]
rs4802889	0.93[EUR][1000 genomes]
rs4803195	0.91[EUR][1000 genomes]
rs4803210	0.88[CEU][hapmap]
rs4803229	0.93[CEU][hapmap]
rs4803262	0.96[CHB][hapmap];0.81[YRI][hapmap]
rs59224125	0.85[EUR][1000 genomes]
rs6508719	0.93[CEU][hapmap]
rs6508732	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6508733	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6508736	0.91[CHB][hapmap]
rs713256	0.93[CEU][hapmap]
rs7247259	0.94[CEU][hapmap]
rs7248733	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7252099	0.84[EUR][1000 genomes]
rs7252325	0.82[EUR][1000 genomes]
rs7252346	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7253091	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7253114	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7255407	0.82[EUR][1000 genomes]
rs7255785	0.84[EUR][1000 genomes]
rs7255952	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7255972	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7255996	0.84[EUR][1000 genomes]
rs73631095	0.88[EUR][1000 genomes]
rs8106839	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs8107840	0.86[ASN][1000 genomes]
rs8109038	1.00[CEU][hapmap];0.86[YRI][hapmap];0.98[EUR][1000 genomes]
rs8109632	0.82[EUR][1000 genomes]
rs8111782	0.94[CEU][hapmap]
rs9304566	0.93[CEU][hapmap]
rs954504	0.96[CHB][hapmap];0.81[YRI][hapmap]
rs9676739	0.88[EUR][1000 genomes]
rs9676967	0.82[EUR][1000 genomes]
rs968073	0.95[CHB][hapmap]
rs9917081	0.94[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:38008800-38026600	Weak transcription	Fetal Heart	heart
4	chr19:38017400-38028800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:38018400-38025000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:38021600-38028800	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr19:38021600-38030200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:38021800-38028800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:38021800-38028800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:38021800-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:38021800-38028800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:38021800-38028800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:38021800-38029800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:38021800-38030000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:38021800-38030800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:38021800-38031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:38022000-38025000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr19:38022000-38028400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:38022000-38028800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr19:38022000-38030600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr19:38022200-38025600	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:38022200-38025800	ZNF genes & repeats	Pancreas	Pancrea
23	chr19:38022200-38026000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
24	chr19:38022200-38027200	Strong transcription	Right Ventricle	heart
25	chr19:38022200-38028600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:38022200-38028600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:38022200-38028600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr19:38022200-38028800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr19:38022200-38028800	ZNF genes & repeats	Esophagus	oesophagus
30	chr19:38022200-38028800	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr19:38022200-38028800	ZNF genes & repeats	Left Ventricle	heart
32	chr19:38022200-38028800	ZNF genes & repeats	Spleen	Spleen
33	chr19:38022200-38029400	ZNF genes & repeats	Aorta	Aorta
34	chr19:38022200-38029600	ZNF genes & repeats	Ovary	ovary
35	chr19:38022200-38030200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:38022400-38025000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
38	chr19:38022400-38025400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:38022400-38025800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:38022400-38026000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:38022400-38026000	Strong transcription	Brain Germinal Matrix	brain
42	chr19:38022400-38026000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:38022400-38026000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr19:38022400-38026000	ZNF genes & repeats	Gastric	stomach
45	chr19:38022400-38026600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:38022400-38027400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:38022400-38028000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:38022400-38028600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr19:38022400-38028600	ZNF genes & repeats	Lung	lung
50	chr19:38022400-38028800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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