Variant report

Variant	rs12095538
Chromosome Location	chr1:114653921-114653922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114649451..114652163-chr1:114653443..114655264,2	K562	blood:
2	chr1:114653590..114655647-chr1:114659608..114662763,3	MCF-7	breast:
3	chr1:114500099..114501893-chr1:114653415..114654957,2	MCF-7	breast:
4	chr1:114653542..114655254-chr1:114680664..114683283,2	K562	blood:
5	chr1:114653835..114656090-chr1:114660410..114662840,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1872478	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2629812	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs498302	0.96[EUR][1000 genomes]
rs588983	0.88[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs659646	0.87[EUR][1000 genomes]
rs676715	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs676743	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs677635	0.85[ASN][1000 genomes]
rs677674	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964592	0.85[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs964593	0.87[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
4	chr1:114648000-114655600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:114648600-114654800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:114648600-114655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:114648800-114661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:114649200-114655400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:114649400-114661000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:114649600-114655600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:114650200-114654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:114650400-114656200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:114650800-114666000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:114651000-114655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:114651400-114655600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:114651600-114656800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:114651800-114655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:114652000-114654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:114652000-114654400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:114652000-114655400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:114652000-114660600	Weak transcription	Fetal Lung	lung
22	chr1:114652200-114656800	Weak transcription	NH-A	brain
23	chr1:114652400-114655400	Weak transcription	Adipose Nuclei	Adipose
24	chr1:114652400-114655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:114652800-114654400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:114652800-114654600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:114652800-114654600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:114652800-114654600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:114653200-114654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:114653200-114654600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:114653200-114654800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:114653400-114654800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:114653600-114655000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:114653800-114654200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links