Variant report

Variant	rs1123669
Chromosome Location	chr2:174132808-174132809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1345008	1.00[CEU][hapmap]
rs16861466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861474	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861477	1.00[ASN][1000 genomes]
rs17691726	1.00[CEU][hapmap]
rs17742715	1.00[MKK][hapmap]
rs3769175	1.00[LWK][hapmap]
rs62174397	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
3	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
4	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:174105000-174133400	Weak transcription	NHLF	lung
6	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:174121600-174133600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:174122600-174133200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
10	chr2:174123400-174133000	Strong transcription	Liver	Liver
11	chr2:174123400-174133200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:174123400-174133400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:174123800-174133000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:174123800-174136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:174125200-174133000	Weak transcription	NH-A	brain
16	chr2:174125800-174133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:174126000-174138000	Weak transcription	Psoas Muscle	Psoas
18	chr2:174126400-174133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:174126400-174138800	Weak transcription	Right Ventricle	heart
20	chr2:174127600-174133800	Weak transcription	HepG2	liver
21	chr2:174128200-174136200	Weak transcription	HSMMtube	muscle
22	chr2:174129800-174133400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:174130000-174133400	Weak transcription	Primary T cells from cord blood	blood
24	chr2:174130000-174135200	Weak transcription	Fetal Intestine Small	intestine
25	chr2:174130000-174136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:174130000-174136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:174130000-174136400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:174130000-174136600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:174130000-174137800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:174130200-174133000	Weak transcription	Fetal Thymus	thymus
31	chr2:174130200-174134200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:174130200-174135600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:174130400-174133400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:174130400-174133600	Weak transcription	GM12878-XiMat	blood
35	chr2:174130400-174133800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:174130600-174133000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:174130800-174133000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:174130800-174133000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:174131000-174137800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:174131200-174133000	Weak transcription	NHDF-Ad	bronchial
41	chr2:174131200-174136400	Weak transcription	NHEK	skin
42	chr2:174131200-174139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:174131400-174133000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:174131400-174133000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:174131400-174133200	Weak transcription	Left Ventricle	heart
46	chr2:174131400-174134000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:174131400-174134000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:174131400-174134000	Weak transcription	Fetal Lung	lung
49	chr2:174131400-174134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:174131400-174134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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