Variant report

Variant	rs16861269
Chromosome Location	chr2:173958165-173958166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173955487..173959709-chr2:173960295..173962989,5	K562	blood:
2	chr2:173938430..173941025-chr2:173956491..173960755,5	K562	blood:
3	chr2:173956563..173958357-chr2:173960463..173962989,2	K562	blood:
4	chr2:173957329..173958875-chr2:173966964..173968819,2	K562	blood:
5	chr2:173939649..173942119-chr2:173957371..173959812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12465665	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12996371	0.82[ASN][1000 genomes]
rs16861266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16861279	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16861295	0.94[EUR][1000 genomes]
rs16861323	0.94[EUR][1000 genomes]
rs2053964	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119124	0.94[EUR][1000 genomes]
rs2289395	0.83[EUR][1000 genomes]
rs3769164	0.94[EUR][1000 genomes]
rs3769175	0.94[EUR][1000 genomes]
rs3769183	0.94[EUR][1000 genomes]
rs3769190	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632313	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56676752	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59935415	0.88[EUR][1000 genomes]
rs61032750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7571788	0.94[EUR][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
3	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
5	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
9	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:173952800-173958800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:173953400-173959200	Weak transcription	HepG2	liver
13	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:173954600-173958200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:173954800-173963000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:173955600-173958400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:173955600-173959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:173955600-173964800	Weak transcription	Esophagus	oesophagus
20	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
21	chr2:173955600-173971800	Weak transcription	Lung	lung
22	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:173955600-173984000	Weak transcription	Gastric	stomach
24	chr2:173955800-173958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:173955800-173958200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:173956000-173958200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:173956000-173959600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173956000-173963600	Weak transcription	HSMM	muscle
30	chr2:173956200-173960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:173956200-173964400	Weak transcription	GM12878-XiMat	blood
32	chr2:173956200-173969000	Weak transcription	NH-A	brain
33	chr2:173956400-173958200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:173956400-173958200	Strong transcription	HMEC	breast
35	chr2:173956400-173959000	Weak transcription	Liver	Liver
36	chr2:173956600-173958200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:173956600-173959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
39	chr2:173956800-173961000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:173957000-173961000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:173957000-173963600	Weak transcription	Right Ventricle	heart
42	chr2:173957000-173964600	Weak transcription	Ovary	ovary
43	chr2:173957000-173964800	Weak transcription	Aorta	Aorta
44	chr2:173957000-173966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
46	chr2:173957200-173958200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:173957200-173958200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:173957200-173960800	Weak transcription	Osteobl	bone
49	chr2:173957200-173961400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:173957600-173958200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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