Variant report

Variant	rs3128647
Chromosome Location	chr1:225157578-225157579
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	chr1:225151942..225154325-chr1:225156559..225160933,3	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1078794	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1395115	0.83[AMR][1000 genomes]
rs1580956	0.83[AMR][1000 genomes]
rs2449262	0.83[AMR][1000 genomes]
rs2449264	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449265	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449267	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449268	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449270	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449271	0.83[AMR][1000 genomes]
rs2449272	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449275	0.83[AMR][1000 genomes]
rs2449277	0.83[AMR][1000 genomes]
rs2449278	0.83[AMR][1000 genomes]
rs2449283	0.83[AMR][1000 genomes]
rs2449284	0.83[AMR][1000 genomes]
rs2449286	0.83[AMR][1000 genomes]
rs2449288	0.83[AMR][1000 genomes]
rs2449289	0.83[AMR][1000 genomes]
rs2449290	0.83[AMR][1000 genomes]
rs2449294	0.83[AMR][1000 genomes]
rs2449302	0.83[AMR][1000 genomes]
rs2449312	0.83[AMR][1000 genomes]
rs2449314	0.83[AMR][1000 genomes]
rs2449317	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449319	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449321	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449323	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449324	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2456338	0.83[AMR][1000 genomes]
rs2456343	0.83[AMR][1000 genomes]
rs2456352	0.83[AMR][1000 genomes]
rs2489299	0.83[AMR][1000 genomes]
rs2489307	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489309	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489315	0.83[AMR][1000 genomes]
rs2489316	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489317	0.83[AMR][1000 genomes]
rs2489318	0.83[AMR][1000 genomes]
rs2489319	0.83[AMR][1000 genomes]
rs2489321	0.83[AMR][1000 genomes]
rs2489323	0.83[AMR][1000 genomes]
rs2489326	0.83[AMR][1000 genomes]
rs2489329	0.83[AMR][1000 genomes]
rs2489331	0.83[AMR][1000 genomes]
rs2489333	0.83[AMR][1000 genomes]
rs2489334	0.83[AMR][1000 genomes]
rs2489335	0.83[AMR][1000 genomes]
rs2489336	0.83[AMR][1000 genomes]
rs2489339	0.83[AMR][1000 genomes]
rs2489340	0.83[AMR][1000 genomes]
rs2489342	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489345	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489349	0.83[AMR][1000 genomes]
rs2489350	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489351	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489354	0.91[AMR][1000 genomes]
rs2489356	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489357	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489358	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2489360	0.83[AMR][1000 genomes]
rs2501065	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501067	0.88[AFR][1000 genomes]
rs2501069	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501074	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501076	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501077	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501079	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501104	0.83[AMR][1000 genomes]
rs2501113	0.83[AMR][1000 genomes]
rs2501117	0.83[AMR][1000 genomes]
rs2501121	0.83[AMR][1000 genomes]
rs2501122	0.83[AMR][1000 genomes]
rs2501124	0.83[AMR][1000 genomes]
rs2501128	0.83[AMR][1000 genomes]
rs2501136	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501137	0.80[AFR][1000 genomes]
rs2501142	0.83[AMR][1000 genomes]
rs2501144	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501148	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2501150	0.83[AMR][1000 genomes]
rs2501152	0.83[AMR][1000 genomes]
rs2501157	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2516334	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2929627	0.83[AMR][1000 genomes]
rs2929629	0.83[AMR][1000 genomes]
rs2929632	0.83[AMR][1000 genomes]
rs6426164	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6693680	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes]
rs9426103	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9426104	0.81[AFR][1000 genomes]
rs9426147	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9426156	0.83[AMR][1000 genomes]
rs9426159	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1804634	chr1:225137134-225206826	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225138800-225163800	Weak transcription	Hela-S3	cervix
2	chr1:225140000-225158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:225141400-225158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:225141400-225162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:225141600-225159000	Weak transcription	Ovary	ovary
6	chr1:225141800-225159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:225141800-225160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:225142800-225158400	Weak transcription	NH-A	brain
9	chr1:225142800-225162200	Weak transcription	Fetal Kidney	kidney
10	chr1:225142800-225164400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:225143400-225161800	Weak transcription	A549	lung
12	chr1:225145200-225160600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:225145600-225158800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:225147400-225157800	Weak transcription	HepG2	liver
15	chr1:225148400-225158200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:225148800-225158000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:225150400-225157600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:225150400-225160600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:225150400-225167200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:225150400-225171200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:225153200-225158000	Weak transcription	Liver	Liver
22	chr1:225153400-225160800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:225153600-225158600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:225154200-225157800	Weak transcription	HMEC	breast
25	chr1:225155200-225157600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:225155200-225157600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:225156600-225158200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:225157000-225158600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:225157200-225157600	Strong transcription	Pancreas	Pancrea
30	chr1:225157200-225158200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:225157200-225159400	Weak transcription	K562	blood
32	chr1:225157200-225172200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:225157400-225161800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:225157400-225163800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225157400-225165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links