Variant report

Variant	rs58146586
Chromosome Location	chr2:169741613-169741614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169740008..169742410-chr20:3801025..3803112,2	K562	blood:
2	chr2:169741332..169743279-chr2:169744791..169746494,2	K562	blood:
3	chr2:169736562..169739615-chr2:169739927..169743457,5	K562	blood:

Variant related genes	Relation type
ENSG00000125843	Chromatin interaction
ENSG00000152253	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10084216	0.86[AFR][1000 genomes]
rs11900587	0.85[AMR][1000 genomes]
rs13384539	1.00[AMR][1000 genomes]
rs16856039	0.85[AMR][1000 genomes]
rs16856043	0.85[AMR][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:63 , 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	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:169716000-169745800	Weak transcription	HSMM	muscle
4	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:169722000-169741800	Weak transcription	Fetal Lung	lung
6	chr2:169722000-169742800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:169722000-169744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
9	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
10	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
12	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:169729600-169745800	Weak transcription	Thymus	Thymus
15	chr2:169730200-169743200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:169730200-169745800	Weak transcription	HUVEC	blood vessel
17	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:169732000-169745800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:169733800-169745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:169734000-169744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:169734000-169746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:169734200-169745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:169737200-169744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:169737600-169745800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:169737800-169745800	Weak transcription	Fetal Heart	heart
27	chr2:169738000-169746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:169738400-169744200	Weak transcription	NH-A	brain
29	chr2:169739400-169746400	Weak transcription	Primary T cells from cord blood	blood
30	chr2:169739600-169746000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:169740000-169741800	Strong transcription	Dnd41	blood
32	chr2:169740000-169744400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:169740000-169745200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:169740400-169744800	Strong transcription	Fetal Thymus	thymus
35	chr2:169740600-169744800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:169740600-169745200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:169740600-169745200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:169740600-169745200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:169740600-169745200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:169740600-169745200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:169740800-169742200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:169740800-169742600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:169741000-169741800	Weak transcription	HepG2	liver
44	chr2:169741000-169742200	Strong transcription	A549	lung
45	chr2:169741000-169743200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:169741000-169744800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:169741200-169744800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:169741400-169742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:169741400-169742000	Enhancers	NHEK	skin
50	chr2:169741400-169742200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links