Variant report

Variant	rs2196185
Chromosome Location	chr19:44850977-44850978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1233430	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233431	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233432	0.85[EUR][1000 genomes]
rs1233433	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233434	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233436	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233438	0.85[EUR][1000 genomes]
rs1233442	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233443	0.80[EUR][1000 genomes]
rs1233445	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233446	0.85[EUR][1000 genomes]
rs1233449	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233450	0.85[EUR][1000 genomes]
rs1233451	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233452	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1233453	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1233457	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1233458	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233460	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233461	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233462	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233469	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1233471	0.84[EUR][1000 genomes]
rs1233472	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1233473	0.85[EUR][1000 genomes]
rs1234839	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1234840	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1235163	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1237178	0.85[EUR][1000 genomes]
rs1237179	0.80[CEU][hapmap]
rs1238786	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1347349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369100	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17657025	0.82[CEU][hapmap]
rs1836273	0.90[ASN][1000 genomes]
rs2117385	0.80[CEU][hapmap]
rs2117387	0.80[CEU][hapmap]
rs2164112	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168990	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2249402	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2262860	1.00[ASN][1000 genomes]
rs2446491	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2466421	0.89[ASN][1000 genomes]
rs2571076	0.80[CEU][hapmap]
rs2571100	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2571105	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2571106	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2609881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2609883	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609886	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2609887	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609889	0.89[ASN][1000 genomes]
rs2609890	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2609898	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2609905	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2609906	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609909	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2722707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722711	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722715	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722716	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722717	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2722718	0.89[ASN][1000 genomes]
rs2722719	0.89[ASN][1000 genomes]
rs2722721	0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs2722735	1.00[ASN][1000 genomes]
rs2722736	1.00[ASN][1000 genomes]
rs2722738	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2722739	0.93[ASN][1000 genomes]
rs59555311	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6509153	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs874187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs898175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs898176	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs898177	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs898179	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs984116	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv963093	chr19:44850276-44876742	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44828600-44851000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:44837400-44851000	ZNF genes & repeats	Ovary	ovary
4	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
5	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:44844200-44859800	Weak transcription	Osteobl	bone
7	chr19:44844800-44851000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:44844800-44853000	Weak transcription	HSMMtube	muscle
9	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:44845200-44860000	Weak transcription	HSMM	muscle
11	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:44847000-44853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44847400-44851400	ZNF genes & repeats	Aorta	Aorta
14	chr19:44847400-44855200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:44847800-44855400	Weak transcription	Right Ventricle	heart
16	chr19:44848000-44851800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:44848200-44852200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:44848200-44853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:44848200-44854800	Weak transcription	Fetal Brain Male	brain
20	chr19:44848600-44851000	Enhancers	Brain Anterior Caudate	brain
21	chr19:44849000-44851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:44849000-44851400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44849000-44852200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:44849000-44852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:44849200-44851000	Enhancers	Brain Germinal Matrix	brain
26	chr19:44849600-44859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:44850000-44853400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:44850400-44851400	Weak transcription	Esophagus	oesophagus
29	chr19:44850400-44851600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr19:44850400-44851600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart

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