Variant report

Variant	rs12623346
Chromosome Location	chr2:173903433-173903434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173900217..173904593-chr2:173939511..173942329,3	MCF-7	breast:
2	chr2:173903076..173905705-chr2:173939417..173942718,3	K562	blood:
3	chr2:173902260..173904041-chr2:173982798..173984543,2	MCF-7	breast:
4	chr2:173902789..173904327-chr2:173917257..173919132,2	K562	blood:
5	chr2:173903027..173904652-chr2:173908089..173910075,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12619395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1345008	1.00[AFR][1000 genomes]
rs16861227	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17760587	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3769202	1.00[AFR][1000 genomes]
rs6710789	1.00[AFR][1000 genomes]
rs73019627	0.85[ASN][1000 genomes]
rs7425411	1.00[AFR][1000 genomes]
rs752729	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7562681	0.85[ASN][1000 genomes]
rs7567603	1.00[AFR][1000 genomes]
rs7603458	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:173888800-173906600	Weak transcription	Lung	lung
4	chr2:173891000-173908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:173892600-173906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:173893000-173908800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:173893800-173908200	Weak transcription	Right Ventricle	heart
10	chr2:173894000-173909200	Weak transcription	Fetal Stomach	stomach
11	chr2:173897000-173908200	Weak transcription	HMEC	breast
12	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:173901600-173903800	Enhancers	Pancreas	Pancrea
14	chr2:173901600-173904400	Enhancers	Ovary	ovary
15	chr2:173902000-173904600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:173902200-173908200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:173902400-173908600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:173902400-173909600	Weak transcription	Small Intestine	intestine
19	chr2:173902600-173906400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:173902800-173903800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:173902800-173905000	Weak transcription	Left Ventricle	heart
22	chr2:173902800-173906400	Weak transcription	Right Atrium	heart
23	chr2:173902800-173906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:173902800-173908400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:173902800-173909800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:173903000-173903800	Enhancers	Fetal Heart	heart
27	chr2:173903000-173903800	Enhancers	HepG2	liver
28	chr2:173903000-173906200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:173903000-173907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:173903000-173908000	Weak transcription	Liver	Liver
31	chr2:173903000-173908000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:173903200-173903600	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links