Variant report

Variant	rs121993
Chromosome Location	chr3:42776601-42776602
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	chr3:42727358..42730131-chr3:42775132..42777505,2	MCF-7	breast:
2	chr3:42681634..42683694-chr3:42776062..42778558,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs123506	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs123509	1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs339661	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs339662	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs339682	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs339683	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs339685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs339686	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:42769800-42787600	Weak transcription	Gastric	stomach
3	chr3:42772600-42777600	Weak transcription	Left Ventricle	heart
4	chr3:42772600-42778200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:42773000-42778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:42773200-42776800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:42773800-42776800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:42773800-42777600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:42774000-42777400	Weak transcription	Right Ventricle	heart
10	chr3:42774200-42777800	Weak transcription	Right Atrium	heart
11	chr3:42774200-42778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:42774200-42778200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:42774600-42780800	Weak transcription	Psoas Muscle	Psoas
14	chr3:42774800-42777400	Weak transcription	Fetal Heart	heart
15	chr3:42774800-42778200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:42775000-42777400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:42775000-42777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:42775200-42776800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:42775200-42777400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:42775200-42778000	Enhancers	Brain Angular Gyrus	brain
21	chr3:42775200-42778200	Enhancers	Brain Substantia Nigra	brain
22	chr3:42775400-42777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:42775600-42777600	Enhancers	Brain Hippocampus Middle	brain
24	chr3:42775600-42778000	Enhancers	Brain Anterior Caudate	brain
25	chr3:42775600-42778200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:42775600-42778400	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:42775600-42781000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:42775800-42780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:42776000-42776800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:42776000-42777200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:42776400-42777200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:42776400-42777400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:42776400-42777800	Weak transcription	Spleen	Spleen
34	chr3:42776400-42778000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:42776600-42777000	Weak transcription	HepG2	liver
36	chr3:42776600-42777200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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