Variant report

Variant	rs10930856
Chromosome Location	chr2:180051514-180051515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10084229	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10084475	0.88[ASN][1000 genomes]
rs10170430	0.85[ASN][1000 genomes]
rs10196577	0.85[ASN][1000 genomes]
rs10197425	0.82[ASN][1000 genomes]
rs10205477	0.97[ASN][1000 genomes]
rs10208593	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10930855	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930857	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12693175	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693180	0.81[EUR][1000 genomes]
rs12997079	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs13022867	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13029576	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396334	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs13403231	1.00[ASN][1000 genomes]
rs13404037	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420572	0.88[ASN][1000 genomes]
rs13420582	0.85[ASN][1000 genomes]
rs13427714	0.82[EUR][1000 genomes]
rs17363260	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17363267	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1900338	0.88[ASN][1000 genomes]
rs2289993	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2289994	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs28763731	1.00[ASN][1000 genomes]
rs340320	1.00[CHB][hapmap]
rs34728717	0.88[ASN][1000 genomes]
rs56029204	0.87[ASN][1000 genomes]
rs56109193	0.88[ASN][1000 genomes]
rs56181927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67028844	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3424303	chr2:180049332-180052080	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3406568	chr2:180049407-180051780	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:180015000-180060600	Weak transcription	Lung	lung
8	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
9	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
11	chr2:180016200-180054000	Weak transcription	Osteobl	bone
12	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
13	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
14	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:180036600-180053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:180041200-180053200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
23	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
24	chr2:180041200-180058800	Weak transcription	Ovary	ovary
25	chr2:180043000-180053200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:180043400-180052600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:180043600-180058800	Weak transcription	Gastric	stomach
29	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
30	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
31	chr2:180045800-180051600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:180046000-180054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:180046200-180053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:180046200-180053400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:180046200-180054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:180046200-180054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:180046400-180051800	Weak transcription	Dnd41	blood
39	chr2:180046400-180053200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:180046400-180053600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:180046400-180053800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:180047000-180054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:180047800-180052200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:180047800-180052400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:180047800-180052600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:180047800-180054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:180048000-180053000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:180049200-180052600	Weak transcription	HepG2	liver
50	chr2:180049600-180051800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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