Variant report

Variant	rs4912270
Chromosome Location	chr1:58086456-58086457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10889060	0.92[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1524709	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs4497237	0.84[CHB][hapmap]
rs4523535	0.84[CHB][hapmap]
rs6587787	0.92[CHB][hapmap]
rs6702155	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7527814	0.84[CHB][hapmap]
rs7531119	0.92[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs947245	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv523574	chr1:58018103-58087789	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv871684	chr1:58021206-58096379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58066000-58089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:58066400-58089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:58081200-58090600	Enhancers	Fetal Heart	heart
4	chr1:58081600-58089800	Enhancers	Fetal Muscle Leg	muscle
5	chr1:58083400-58088800	Weak transcription	HSMMtube	muscle
6	chr1:58084800-58086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:58085200-58086600	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:58085400-58086800	Enhancers	Right Ventricle	heart
9	chr1:58085400-58093600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:58085600-58086800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:58085800-58087000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:58085800-58087400	Enhancers	Ovary	ovary
13	chr1:58086000-58086600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:58086000-58087000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:58086200-58086600	Enhancers	Fetal Brain Female	brain
16	chr1:58086200-58086800	Enhancers	Left Ventricle	heart
17	chr1:58086200-58087000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:58086200-58089800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:58086400-58086600	Enhancers	Spleen	Spleen
20	chr1:58086400-58086800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:58086400-58086800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:58086400-58086800	Enhancers	Right Atrium	heart
23	chr1:58086400-58086800	Enhancers	HepG2	liver
24	chr1:58086400-58087000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:58086400-58088200	Weak transcription	Fetal Lung	lung
26	chr1:58086400-58089600	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links