Variant report

Variant	rs10084216
Chromosome Location	chr2:169728604-169728605
allele	C/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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10182530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898734	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900587	0.85[AMR][1000 genomes]
rs16856039	0.85[AMR][1000 genomes]
rs16856043	0.85[AMR][1000 genomes]
rs16856052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477309	0.85[AFR][1000 genomes]
rs494859	0.87[AFR][1000 genomes]
rs498041	0.86[AFR][1000 genomes]
rs499160	0.86[AFR][1000 genomes]
rs511778	0.87[AFR][1000 genomes]
rs525428	0.87[AFR][1000 genomes]
rs560494	0.87[AFR][1000 genomes]
rs58146586	0.86[AFR][1000 genomes]
rs59115206	0.86[AFR][1000 genomes];1.00[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:59 , 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	chr2:169713200-169728800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:169713400-169731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:169714000-169732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:169715400-169731600	Weak transcription	Small Intestine	intestine
8	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:169716000-169745800	Weak transcription	HSMM	muscle
10	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:169719800-169733600	Weak transcription	NHDF-Ad	bronchial
12	chr2:169722000-169729000	Weak transcription	HMEC	breast
13	chr2:169722000-169730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:169722000-169730800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:169722000-169730800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:169722000-169732800	Weak transcription	Fetal Heart	heart
17	chr2:169722000-169736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:169722000-169741200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:169722000-169741400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:169722000-169741400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:169722000-169741400	Weak transcription	NHEK	skin
22	chr2:169722000-169741800	Weak transcription	Fetal Lung	lung
23	chr2:169722000-169742800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:169722000-169744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
26	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
27	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
29	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:169722200-169730800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:169722200-169741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:169724000-169733200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:169727200-169730400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:169727400-169730200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:169727600-169733800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:169727800-169729000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:169727800-169729200	ZNF genes & repeats	Dnd41	blood
39	chr2:169727800-169729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:169727800-169730200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:169727800-169731000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:169727800-169731200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:169727800-169731800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:169727800-169732200	Strong transcription	Fetal Thymus	thymus
45	chr2:169728000-169729600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:169728000-169730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:169728000-169730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:169728000-169730400	Strong transcription	HepG2	liver
49	chr2:169728000-169731400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:169728000-169731600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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