Variant report

Variant	rs377383212
Chromosome Location	chr2:169745022-169745023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169743474..169745505-chr2:169745561..169748258,2	K562	blood:

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3417763	chr2:169744606-169746654	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:169716000-169745800	Weak transcription	HSMM	muscle
3	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:169722000-169745800	Weak transcription	Fetal Stomach	stomach
5	chr2:169722000-169745800	Weak transcription	GM12878-XiMat	blood
6	chr2:169722000-169746000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:169722000-169746000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:169722000-169746000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:169722000-169746000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:169729600-169745800	Weak transcription	Thymus	Thymus
11	chr2:169730200-169745800	Weak transcription	HUVEC	blood vessel
12	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:169732000-169745800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:169733800-169745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:169734000-169746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:169734200-169745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:169737600-169745800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:169737800-169745800	Weak transcription	Fetal Heart	heart
20	chr2:169738000-169746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:169739400-169746400	Weak transcription	Primary T cells from cord blood	blood
22	chr2:169739600-169746000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:169740000-169745200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:169740600-169745200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:169740600-169745200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:169740600-169745200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:169740600-169745200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:169740600-169745200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:169741600-169745800	Weak transcription	Osteobl	bone
30	chr2:169742000-169745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:169742000-169745800	Weak transcription	Brain Germinal Matrix	brain
32	chr2:169742000-169745800	Weak transcription	NHDF-Ad	bronchial
33	chr2:169742200-169745200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:169742200-169745800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:169742200-169745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:169742200-169745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:169742200-169745800	Weak transcription	Fetal Kidney	kidney
38	chr2:169742200-169745800	Weak transcription	A549	lung
39	chr2:169742200-169745800	Weak transcription	HMEC	breast
40	chr2:169742400-169746000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:169742600-169745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:169742600-169745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:169742600-169745800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:169742600-169745800	Weak transcription	NHEK	skin
45	chr2:169742800-169745800	Weak transcription	NHLF	lung
46	chr2:169742800-169746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:169743000-169745800	Weak transcription	Hela-S3	cervix
48	chr2:169743200-169745200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:169743200-169746000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:169743800-169745600	Strong transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links