Variant report

Variant	rs7608106
Chromosome Location	chr2:180053792-180053793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10172589	1.00[ASN][1000 genomes]
rs10176828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10207754	0.85[ASN][1000 genomes]
rs10208882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10209875	1.00[CHB][hapmap]
rs10221811	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10497535	0.93[AMR][1000 genomes]
rs11891072	0.85[AMR][1000 genomes]
rs11897308	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11901408	0.85[AMR][1000 genomes]
rs11901421	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11904657	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12328593	1.00[ASN][1000 genomes]
rs12329222	0.91[ASN][1000 genomes]
rs12613089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12616452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12618724	0.85[ASN][1000 genomes]
rs12622434	1.00[ASN][1000 genomes]
rs13383806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13387502	0.85[ASN][1000 genomes]
rs13391187	1.00[ASN][1000 genomes]
rs13395559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13408774	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13412820	0.95[ASN][1000 genomes]
rs13422693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13424092	1.00[CHB][hapmap]
rs13429191	0.85[ASN][1000 genomes]
rs1490997	0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16866636	0.80[YRI][hapmap]
rs16866647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16866667	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs28362046	0.90[ASN][1000 genomes]
rs28508327	0.90[ASN][1000 genomes]
rs3731739	0.81[YRI][hapmap]
rs6433758	0.80[AFR][1000 genomes]
rs6433762	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs6433765	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs6707001	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs6710100	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6723850	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs7578417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7588135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7601965	0.80[ASN][1000 genomes]
rs9288024	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs930620	0.83[YRI][hapmap];0.83[AFR][1000 genomes]

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	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

No data

Chromatin state (count:51 , 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	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180015000-180060600	Weak transcription	Lung	lung
7	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
8	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
10	chr2:180016200-180054000	Weak transcription	Osteobl	bone
11	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
12	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
17	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
18	chr2:180041200-180058800	Weak transcription	Ovary	ovary
19	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:180043600-180058800	Weak transcription	Gastric	stomach
21	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
22	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
23	chr2:180046000-180054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:180046200-180054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:180046200-180054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:180046400-180053800	Weak transcription	Adipose Nuclei	Adipose
28	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:180047000-180054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:180047800-180054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:180049600-180053800	Weak transcription	Small Intestine	intestine
32	chr2:180049800-180054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:180051400-180054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:180052200-180054200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:180052200-180054200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:180052200-180056400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:180052400-180056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:180052600-180053800	Genic enhancers	HepG2	liver
41	chr2:180052600-180055800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr2:180052600-180056400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:180052800-180055600	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr2:180053200-180053800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr2:180053200-180053800	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr2:180053200-180054200	ZNF genes & repeats	Fetal Brain Female	brain
47	chr2:180053200-180056000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr2:180053200-180056800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:180053400-180054600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:180053600-180054000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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