Variant report

Variant	rs2709824
Chromosome Location	chr4:152339123-152339124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152337823..152339848-chr4:152340887..152343384,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10024847	0.90[EUR][1000 genomes]
rs11099817	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11722000	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723262	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11724195	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726570	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11729586	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732407	0.96[CEU][hapmap];0.94[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11732639	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11732819	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11735121	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11930988	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11935848	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11936442	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947054	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12186219	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12651135	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1596289	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1596291	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2709810	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2709811	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2709840	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2709843	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2709845	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2724546	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724549	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2724557	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724559	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724561	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2724562	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724566	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724570	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2724573	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2724579	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28502777	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28712546	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4077562	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4309821	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4566638	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4569735	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4640653	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4696098	0.83[CHB][hapmap]
rs4696099	0.81[CHB][hapmap]
rs4696264	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4696265	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4696266	0.81[CEU][hapmap]
rs4696268	0.82[CHB][hapmap]
rs55641422	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62327190	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327192	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327193	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327194	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327195	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327198	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62327258	0.81[AFR][1000 genomes]
rs62329061	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6816471	0.83[CHB][hapmap]
rs6836249	0.82[CHB][hapmap]
rs72725968	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72725974	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7435623	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665216	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7665950	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7674244	0.82[CHB][hapmap]
rs7679642	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7679829	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7683134	0.83[CHB][hapmap]
rs7695412	0.81[CHB][hapmap]
rs7695866	0.83[CHB][hapmap]
rs875667	0.83[CHB][hapmap]

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	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv432643	chr4:152335395-152417635	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152331600-152339200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:152332000-152340400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:152332000-152347600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:152334000-152340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:152336000-152339400	Enhancers	HUVEC	blood vessel
6	chr4:152336200-152340600	Enhancers	HSMM	muscle
7	chr4:152336400-152340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:152336600-152340000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:152336600-152340400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:152336600-152340400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:152336600-152340400	Enhancers	Hela-S3	cervix
12	chr4:152336600-152340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:152336600-152340600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:152336800-152339400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:152337200-152339200	Weak transcription	Osteobl	bone
16	chr4:152337400-152339400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:152337400-152339400	Weak transcription	HSMMtube	muscle
18	chr4:152337600-152339400	Weak transcription	NHLF	lung
19	chr4:152337800-152339200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:152337800-152340800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:152338000-152339200	Enhancers	Pancreas	Pancrea
22	chr4:152338000-152339400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:152338000-152340000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:152338200-152340400	Enhancers	HepG2	liver
25	chr4:152338200-152340600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:152338400-152339600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:152338400-152339800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:152338400-152339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:152338400-152340400	Enhancers	NH-A	brain
30	chr4:152338400-152340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:152338400-152341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:152338400-152362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:152338600-152339600	Weak transcription	Fetal Intestine Small	intestine
34	chr4:152338600-152339600	Weak transcription	Stomach Mucosa	stomach
35	chr4:152338600-152339800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:152338600-152340200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:152338600-152340600	Weak transcription	Psoas Muscle	Psoas
38	chr4:152338600-152342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:152338600-152342400	Enhancers	HMEC	breast
40	chr4:152338800-152339800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:152338800-152340600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:152339000-152339800	Enhancers	Left Ventricle	heart
43	chr4:152339000-152339800	Enhancers	NHEK	skin
44	chr4:152339000-152340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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