Variant report

Variant	rs58955804
Chromosome Location	chr2:172845890-172845891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172842580..172845060-chr2:172845399..172847700,2	K562	blood:
2	chr2:172844181..172846403-chr2:172947741..172950445,2	MCF-7	breast:
3	chr2:172844335..172847013-chr2:172956341..172958863,2	MCF-7	breast:
4	chr2:172844744..172846425-chr2:172851326..172853305,2	K562	blood:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12624292	0.85[ASN][1000 genomes]
rs17581481	0.86[ASN][1000 genomes]
rs17581509	0.94[ASN][1000 genomes]
rs17615352	0.86[ASN][1000 genomes]

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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
4	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:172796000-172855200	Weak transcription	Gastric	stomach
6	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
7	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
12	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
13	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
14	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
15	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
16	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
17	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
20	chr2:172824200-172850400	Weak transcription	HMEC	breast
21	chr2:172824400-172847200	Weak transcription	NH-A	brain
22	chr2:172825800-172846400	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
24	chr2:172829200-172847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:172829800-172848000	Weak transcription	HUVEC	blood vessel
26	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:172836200-172851000	Strong transcription	Dnd41	blood
28	chr2:172836400-172849200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:172836400-172851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:172838000-172846000	Weak transcription	Esophagus	oesophagus
31	chr2:172838800-172849200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:172839000-172846200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:172839200-172849000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:172839200-172849800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:172839800-172848200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:172840000-172847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:172840000-172848000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:172840000-172849200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:172840200-172848200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:172840200-172849000	Strong transcription	Liver	Liver
41	chr2:172840200-172849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172840600-172846400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:172840600-172848400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:172840600-172849000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:172840800-172857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:172841000-172847000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:172841000-172849000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:172841000-172849000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:172841000-172849200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:172841000-172849400	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links