Variant report

Variant	rs6753354
Chromosome Location	chr2:174050314-174050315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11901996	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs16861266	0.81[CHD][hapmap]
rs16861295	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16861304	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16861323	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2053964	0.85[JPT][hapmap]
rs2119124	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2289395	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769155	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.89[MEX][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769164	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769166	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769175	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769176	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.94[ASN][1000 genomes]
rs3769179	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769183	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4632313	0.82[CHD][hapmap]
rs58407376	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59935415	0.99[ASN][1000 genomes]
rs61183795	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433398	0.85[CEU][hapmap]
rs6717067	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6725795	1.00[CEU][hapmap]
rs73971702	1.00[ASN][1000 genomes]
rs7566222	0.94[CHB][hapmap];0.88[JPT][hapmap];0.99[ASN][1000 genomes]
rs7571788	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	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
5	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
6	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:174045400-174052800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:174046200-174054200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:174046200-174054400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:174046600-174055800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:174046800-174052800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:174047200-174052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:174047600-174050600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:174047600-174056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
20	chr2:174047800-174050400	Enhancers	NHLF	lung
21	chr2:174047800-174050600	Enhancers	NHDF-Ad	bronchial
22	chr2:174047800-174050800	Enhancers	Osteobl	bone
23	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:174048400-174051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:174048600-174050600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:174048600-174050600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:174048600-174050800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
29	chr2:174048800-174050600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:174049000-174050600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:174049200-174051200	Enhancers	Fetal Heart	heart
33	chr2:174049200-174053000	Weak transcription	Brain Anterior Caudate	brain
34	chr2:174049200-174053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
37	chr2:174049400-174051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:174049400-174051600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:174049400-174051800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:174049400-174051800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:174049400-174051800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:174049400-174051800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:174049400-174051800	Weak transcription	K562	blood
44	chr2:174049400-174052600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:174049400-174052600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:174049400-174052800	Weak transcription	Liver	Liver
47	chr2:174049400-174052800	Weak transcription	Ovary	ovary
48	chr2:174049400-174052800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:174049400-174053200	Weak transcription	Pancreas	Pancrea
50	chr2:174049400-174054200	Weak transcription	Fetal Intestine Large	intestine

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