Variant report

Variant	rs6739749
Chromosome Location	chr2:169729436-169729437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169728195..169733629-chr2:169741403..169748359,8	K562	blood:

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497345	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10497348	1.00[EUR][1000 genomes]
rs34073293	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58191289	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59686285	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62175726	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176769	1.00[EUR][1000 genomes]
rs62176770	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62176780	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62176781	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176783	1.00[EUR][1000 genomes]
rs62176786	1.00[EUR][1000 genomes]
rs6739984	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73014610	0.83[AMR][1000 genomes];1.00[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:169709800-169733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:169713400-169731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:169714000-169732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:169715400-169731600	Weak transcription	Small Intestine	intestine
7	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:169716000-169745800	Weak transcription	HSMM	muscle
9	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:169719800-169733600	Weak transcription	NHDF-Ad	bronchial
11	chr2:169722000-169730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:169722000-169730800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:169722000-169730800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:169722000-169732800	Weak transcription	Fetal Heart	heart
15	chr2:169722000-169736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:169722000-169741200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:169722000-169741400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:169722000-169741400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:169722000-169741400	Weak transcription	NHEK	skin
20	chr2:169722000-169741800	Weak transcription	Fetal Lung	lung
21	chr2:169722000-169742800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:169722000-169744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
24	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
25	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
27	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
28	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:169722200-169730800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:169722200-169741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:169724000-169733200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:169727200-169730400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:169727400-169730200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:169727600-169733800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:169727800-169729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:169727800-169730200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:169727800-169731000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:169727800-169731200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:169727800-169731800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:169727800-169732200	Strong transcription	Fetal Thymus	thymus
41	chr2:169728000-169729600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:169728000-169730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:169728000-169730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:169728000-169730400	Strong transcription	HepG2	liver
45	chr2:169728000-169731400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:169728000-169731600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:169728000-169731800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:169728000-169733800	Strong transcription	K562	blood
49	chr2:169728000-169734000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:169728200-169730200	Strong transcription	HUVEC	blood vessel

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