Variant report

Variant	rs17705834
Chromosome Location	chr2:173701237-173701238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10514633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1104635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704262	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17706349	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17706854	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17706880	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17755063	1.00[EUR][1000 genomes]
rs17755348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756942	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17757877	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2247800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900230	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900240	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900243	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900248	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902287	1.00[EUR][1000 genomes]
rs72902296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906101	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906193	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906194	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908118	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908120	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72908147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908213	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908215	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908218	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908222	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72908226	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72908230	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908233	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908246	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908248	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908250	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908256	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908260	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908274	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908277	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908283	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908285	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7420491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
3	chr2:173698600-173702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:173699200-173701400	Weak transcription	Osteobl	bone
5	chr2:173700000-173701400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173700000-173701400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173700000-173710000	Weak transcription	Psoas Muscle	Psoas
8	chr2:173700600-173702200	Enhancers	HUVEC	blood vessel
9	chr2:173700600-173702600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:173700600-173702600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173700600-173702600	Enhancers	HMEC	breast
12	chr2:173700600-173702800	Enhancers	NHEK	skin
13	chr2:173700800-173701600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:173700800-173702200	Enhancers	Fetal Heart	heart
15	chr2:173701000-173701400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:173701000-173701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:173701000-173701400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:173701000-173701400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:173701000-173701400	Enhancers	Placenta	Placenta
20	chr2:173701000-173701400	Enhancers	Left Ventricle	heart
21	chr2:173701000-173701600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:173701000-173701600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:173701000-173701600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:173701000-173701600	Enhancers	Spleen	Spleen
25	chr2:173701000-173701600	Enhancers	A549	lung
26	chr2:173701000-173701800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:173701000-173701800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:173701000-173701800	Enhancers	Fetal Thymus	thymus
29	chr2:173701000-173701800	Enhancers	NH-A	brain
30	chr2:173701000-173702000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:173701000-173702000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:173701000-173702000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:173701000-173702000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:173701000-173702000	Enhancers	NHDF-Ad	bronchial
35	chr2:173701000-173702200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:173701000-173702200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:173701200-173701400	Enhancers	Right Atrium	heart
38	chr2:173701200-173701600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:173701200-173701600	Enhancers	Primary T cells from cord blood	blood
40	chr2:173701200-173701600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:173701200-173701600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr2:173701200-173701800	Enhancers	NHLF	lung
43	chr2:173701200-173702600	Enhancers	Hela-S3	cervix

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