Variant report

Variant	rs12074229
Chromosome Location	chr1:210474602-210474603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210472726..210476795-chr1:210544838..210548404,4	MCF-7	breast:
2	chr1:210472681..210476140-chr1:210544335..210548471,5	K562	blood:
3	chr1:210465950..210468476-chr1:210473987..210476235,2	MCF-7	breast:
4	chr1:210468377..210470093-chr1:210472227..210474687,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-1	chr1:210474468-210474672	l_177_chr1:210465241-210473338_heart

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12030512	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12030856	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034871	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040684	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138216	0.89[EUR][1000 genomes]
rs1338290	0.97[EUR][1000 genomes]
rs4844989	0.85[EUR][1000 genomes]
rs4844996	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs583148	0.95[EUR][1000 genomes]
rs58366398	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587203	0.95[EUR][1000 genomes]
rs588197	0.95[EUR][1000 genomes]
rs590380	0.95[EUR][1000 genomes]
rs60154123	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs608791	0.95[EUR][1000 genomes]
rs650854	0.95[EUR][1000 genomes]
rs652241	0.95[EUR][1000 genomes]
rs652256	0.95[EUR][1000 genomes]
rs689248	0.95[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210466800-210477400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:210468200-210475000	Weak transcription	Ovary	ovary
3	chr1:210469400-210475200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:210469600-210475000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:210472200-210475000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:210472200-210475200	Enhancers	NHEK	skin
7	chr1:210472400-210475400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:210472400-210477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:210472600-210475200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:210473000-210475000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:210473000-210475000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:210473400-210474800	Enhancers	Esophagus	oesophagus
13	chr1:210473600-210475600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:210473800-210475800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:210474000-210474800	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:210474000-210475600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:210474000-210476400	Enhancers	Adipose Nuclei	Adipose
18	chr1:210474000-210476400	Enhancers	Fetal Heart	heart
19	chr1:210474200-210474800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:210474200-210475000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:210474200-210475200	Enhancers	Brain Angular Gyrus	brain
22	chr1:210474200-210475400	Enhancers	Brain Substantia Nigra	brain
23	chr1:210474200-210475600	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:210474200-210475600	Enhancers	Stomach Mucosa	stomach
25	chr1:210474200-210475800	Enhancers	NHDF-Ad	bronchial
26	chr1:210474200-210476000	Enhancers	HSMMtube	muscle
27	chr1:210474200-210476200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:210474200-210476200	Enhancers	Psoas Muscle	Psoas
29	chr1:210474200-210476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:210474200-210477600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:210474400-210474800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:210474400-210474800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:210474400-210475200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:210474400-210475400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr1:210474400-210476000	Enhancers	Brain Anterior Caudate	brain
36	chr1:210474400-210476000	Enhancers	Brain Germinal Matrix	brain
37	chr1:210474600-210475000	Enhancers	Brain Hippocampus Middle	brain
38	chr1:210474600-210476000	Enhancers	Fetal Stomach	stomach

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