Variant report

Variant	rs2194080
Chromosome Location	chr5:126634444-126634445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126633384..126634837-chr5:126828377..126829498,7	MCF-7	breast:
2	chr5:126633876..126636495-chr5:126637086..126639368,3	MCF-7	breast:
3	chr5:126631925..126634721-chr5:126635214..126638785,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10519949	0.90[CHB][hapmap]
rs12654455	0.90[CHB][hapmap]
rs12655913	0.91[CHB][hapmap]
rs17165082	0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs17165103	0.90[YRI][hapmap]
rs17684438	0.91[CHB][hapmap]
rs17684525	0.90[CHB][hapmap]
rs17762857	0.91[CHB][hapmap]
rs17762863	0.91[CHB][hapmap]
rs2898042	0.94[YRI][hapmap];0.99[AFR][1000 genomes]
rs56084567	0.99[AFR][1000 genomes]
rs56169866	0.99[AFR][1000 genomes]
rs57623356	0.99[AFR][1000 genomes]
rs6862045	0.91[CHB][hapmap]
rs73785574	0.96[AFR][1000 genomes]
rs73785576	0.99[AFR][1000 genomes]
rs7702573	1.00[YRI][hapmap];0.97[AFR][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126627600-126635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:126629600-126638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:126629800-126635200	Weak transcription	HSMMtube	muscle
4	chr5:126629800-126635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:126630400-126639000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:126631000-126638800	Enhancers	Brain Angular Gyrus	brain
7	chr5:126632600-126635400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:126632800-126637000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:126633200-126635800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:126633200-126636000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:126633200-126636000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:126633200-126636600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:126633400-126637200	Weak transcription	HSMM	muscle
14	chr5:126633600-126636000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:126633600-126637200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:126633800-126635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:126633800-126636200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:126633800-126636600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:126633800-126636600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:126633800-126636600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:126633800-126637000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:126633800-126637400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:126634000-126635600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:126634000-126636000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:126634000-126636200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126634200-126635000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:126634200-126635800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:126634200-126635800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:126634200-126636200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:126634200-126641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:126634400-126634600	Enhancers	Brain Anterior Caudate	brain
32	chr5:126634400-126634800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:126634400-126634800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:126634400-126637400	Enhancers	Brain Hippocampus Middle	brain
35	chr5:126634400-126641000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:126634400-126641800	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:126634400-126648400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links