Variant report

Variant	rs3769183
Chromosome Location	chr2:174025135-174025136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12465665	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12996371	0.82[CHB][hapmap]
rs16861266	0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs16861269	0.94[EUR][1000 genomes]
rs16861279	0.85[CHB][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16861295	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs16861323	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053964	0.83[CHB][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap];0.94[EUR][1000 genomes]
rs2119124	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289395	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769155	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs3769164	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769166	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3769175	0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769176	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3769179	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3769190	0.94[EUR][1000 genomes]
rs3769206	0.83[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769208	0.94[EUR][1000 genomes]
rs4632313	0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs56676752	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58407376	0.92[ASN][1000 genomes]
rs59935415	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61032750	0.94[EUR][1000 genomes]
rs61183795	0.90[ASN][1000 genomes]
rs6717067	0.92[ASN][1000 genomes]
rs6753354	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs73971702	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7566222	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7571788	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:174013400-174025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:174016200-174048800	Weak transcription	K562	blood
6	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:174018000-174025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:174021600-174025600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:174021600-174027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:174021800-174025400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:174021800-174026400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:174022400-174025400	Enhancers	NHDF-Ad	bronchial
16	chr2:174022400-174026400	Enhancers	NHEK	skin
17	chr2:174022400-174026600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:174022400-174026600	Enhancers	HMEC	breast
19	chr2:174022600-174025400	Weak transcription	Left Ventricle	heart
20	chr2:174022600-174025400	Weak transcription	Psoas Muscle	Psoas
21	chr2:174023600-174025400	Weak transcription	Aorta	Aorta
22	chr2:174023800-174026600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:174024000-174026600	Enhancers	Osteobl	bone
24	chr2:174024200-174025800	Enhancers	Lung	lung
25	chr2:174024200-174025800	Enhancers	Ovary	ovary
26	chr2:174024200-174025800	Enhancers	HSMM	muscle
27	chr2:174024200-174026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:174024200-174026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:174024200-174026200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:174024200-174026600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:174024200-174026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:174024200-174026600	Enhancers	Adipose Nuclei	Adipose
33	chr2:174024200-174026600	Enhancers	Liver	Liver
34	chr2:174024200-174026600	Enhancers	Fetal Heart	heart
35	chr2:174024400-174025200	Enhancers	HUVEC	blood vessel
36	chr2:174024400-174025400	Weak transcription	Esophagus	oesophagus
37	chr2:174024400-174025800	Flanking Active TSS	A549	lung
38	chr2:174024400-174026000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:174024400-174026000	Enhancers	NH-A	brain
40	chr2:174024400-174026400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:174024400-174026400	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:174024600-174025400	Weak transcription	Small Intestine	intestine
43	chr2:174024600-174025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:174024600-174025800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:174024800-174025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:174024800-174025200	Active TSS	Primary hematopoietic stem cells	blood
47	chr2:174024800-174025200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:174024800-174025200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:174024800-174025200	Weak transcription	Placenta	Placenta
50	chr2:174024800-174025200	Weak transcription	Pancreas	Pancrea

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