Variant report

Variant	rs2470854
Chromosome Location	chr3:98704236-98704237
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	chr3:98704040..98705831-chr3:98708883..98710475,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs1123293	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12054181	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383902	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1383903	0.83[AMR][1000 genomes]
rs1383904	0.81[AMR][1000 genomes]
rs1383905	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481634	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481635	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481636	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481637	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1524227	0.80[AMR][1000 genomes]
rs1524228	0.80[AMR][1000 genomes]
rs1524229	0.80[AMR][1000 genomes]
rs1580372	0.80[AMR][1000 genomes]
rs1580374	0.81[AMR][1000 genomes]
rs1580376	0.81[AMR][1000 genomes]
rs1585984	0.81[AMR][1000 genomes]
rs1585985	0.81[AMR][1000 genomes]
rs1585986	0.80[AMR][1000 genomes]
rs1905015	0.81[AMR][1000 genomes]
rs1905016	0.81[AMR][1000 genomes]
rs1905017	0.81[AMR][1000 genomes]
rs1905018	0.81[AMR][1000 genomes]
rs1905019	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1905020	0.81[AMR][1000 genomes]
rs1905021	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1967009	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2062059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062060	0.81[AMR][1000 genomes]
rs2062061	0.81[AMR][1000 genomes]
rs2128048	0.81[AMR][1000 genomes]
rs2128049	0.81[AMR][1000 genomes]
rs2128050	0.80[AMR][1000 genomes]
rs2128051	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2128054	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2246861	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2249740	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2262598	0.81[AMR][1000 genomes]
rs2262599	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2262603	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2448988	0.80[AMR][1000 genomes]
rs2448989	0.80[AMR][1000 genomes]
rs2448990	0.80[AMR][1000 genomes]
rs2448991	0.80[AMR][1000 genomes]
rs2448992	0.80[AMR][1000 genomes]
rs2449001	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2449008	0.81[AMR][1000 genomes]
rs2449009	0.81[AMR][1000 genomes]
rs2449011	0.81[AMR][1000 genomes]
rs2449012	0.81[AMR][1000 genomes]
rs2449014	0.81[AMR][1000 genomes]
rs2449016	0.81[AMR][1000 genomes]
rs2449017	0.81[AMR][1000 genomes]
rs2449019	0.81[AMR][1000 genomes]
rs2449020	0.81[AMR][1000 genomes]
rs2449021	0.81[AMR][1000 genomes]
rs2449022	0.81[AMR][1000 genomes]
rs2449023	0.81[AMR][1000 genomes]
rs2449026	0.80[AMR][1000 genomes]
rs2449027	0.80[AMR][1000 genomes]
rs2449028	0.81[AMR][1000 genomes]
rs2449029	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449030	0.81[AMR][1000 genomes]
rs2449031	0.80[AMR][1000 genomes]
rs2449034	0.80[AMR][1000 genomes]
rs2449035	0.81[AMR][1000 genomes]
rs2449036	0.81[AMR][1000 genomes]
rs2449038	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2449039	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2449040	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2449041	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2449042	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2449055	0.80[AMR][1000 genomes]
rs2449058	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2449061	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2449062	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2449063	0.80[AMR][1000 genomes]
rs2449064	0.80[AMR][1000 genomes]
rs2449065	0.80[AMR][1000 genomes]
rs2449066	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2449067	0.80[AMR][1000 genomes]
rs2454686	0.83[ASN][1000 genomes]
rs2462197	0.80[AMR][1000 genomes]
rs2462198	0.80[AMR][1000 genomes]
rs2462199	0.80[AMR][1000 genomes]
rs2462200	0.80[AMR][1000 genomes]
rs2462219	0.81[AMR][1000 genomes]
rs2462220	0.81[AMR][1000 genomes]
rs2462221	0.81[AMR][1000 genomes]
rs2462222	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2462227	0.80[AMR][1000 genomes]
rs2462230	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2462231	0.80[AMR][1000 genomes]
rs2462232	0.80[AMR][1000 genomes]
rs2462233	0.80[AMR][1000 genomes]
rs2462234	0.80[AMR][1000 genomes]
rs2462235	0.80[AMR][1000 genomes]
rs2462236	0.80[AMR][1000 genomes]
rs2462237	0.80[AMR][1000 genomes]
rs2462238	0.80[AMR][1000 genomes]
rs2462239	0.80[AMR][1000 genomes]
rs2462240	0.80[AMR][1000 genomes]
rs2462242	0.80[AMR][1000 genomes]
rs2462244	0.80[AMR][1000 genomes]
rs2470750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470751	0.81[AMR][1000 genomes]
rs2470752	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470753	0.81[AMR][1000 genomes]
rs2470754	0.81[AMR][1000 genomes]
rs2470755	0.81[AMR][1000 genomes]
rs2470756	0.81[AMR][1000 genomes]
rs2470757	0.80[AMR][1000 genomes]
rs2470759	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2470760	0.80[AMR][1000 genomes]
rs2470762	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2470764	0.80[AMR][1000 genomes]
rs2470765	0.80[AMR][1000 genomes]
rs2470769	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470774	0.81[AMR][1000 genomes]
rs2470776	0.81[AMR][1000 genomes]
rs2470777	0.80[AMR][1000 genomes]
rs2470778	0.80[AMR][1000 genomes]
rs2470779	0.81[AMR][1000 genomes]
rs2470780	0.80[AMR][1000 genomes]
rs2470781	0.80[AMR][1000 genomes]
rs2470782	0.80[AMR][1000 genomes]
rs2470783	0.81[AMR][1000 genomes]
rs2470785	0.81[AMR][1000 genomes]
rs2470787	0.81[AMR][1000 genomes]
rs2470788	0.80[AMR][1000 genomes]
rs2470790	0.81[AMR][1000 genomes]
rs2470793	0.80[AMR][1000 genomes]
rs2470796	0.81[AMR][1000 genomes]
rs2470797	0.81[AMR][1000 genomes]
rs2470798	0.80[AMR][1000 genomes]
rs2470808	0.81[AMR][1000 genomes]
rs2470815	0.81[AMR][1000 genomes]
rs2470816	0.81[AMR][1000 genomes]
rs2470818	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470819	0.81[AMR][1000 genomes]
rs2470821	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470822	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470823	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470824	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470825	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470826	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2470829	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470830	0.81[AMR][1000 genomes]
rs2470831	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470832	0.81[AMR][1000 genomes]
rs2470833	0.81[AMR][1000 genomes]
rs2470836	0.81[AMR][1000 genomes]
rs2470840	0.81[AMR][1000 genomes]
rs2470842	0.81[AMR][1000 genomes]
rs2470843	0.81[AMR][1000 genomes]
rs2470844	0.81[AMR][1000 genomes]
rs2470845	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2470846	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470849	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2470851	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2470876	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28608112	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2929489	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2929490	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4241476	0.80[AMR][1000 genomes]
rs4241477	0.80[AMR][1000 genomes]
rs4450736	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276887	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6440280	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6440349	0.80[AMR][1000 genomes]
rs7631624	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7633464	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7648770	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs951093	0.80[AMR][1000 genomes]
rs9820384	0.81[ASN][1000 genomes]
rs9821965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835142	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9843864	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9849048	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9852950	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98697200-98705000	Weak transcription	HSMMtube	muscle
2	chr3:98700000-98705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:98700800-98704800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:98701000-98705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:98701600-98704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:98701600-98706200	Enhancers	NHDF-Ad	bronchial
7	chr3:98702000-98705400	Flanking Active TSS	A549	lung
8	chr3:98702200-98704400	Enhancers	NHLF	lung
9	chr3:98702200-98705600	Enhancers	Osteobl	bone
10	chr3:98702400-98705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:98702600-98705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:98702600-98705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:98702600-98705800	Enhancers	NHEK	skin
14	chr3:98703200-98704400	Enhancers	NH-A	brain
15	chr3:98703200-98704600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:98703200-98704600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:98703200-98704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:98703400-98704400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:98703600-98705000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:98703600-98705600	Enhancers	HMEC	breast
21	chr3:98703800-98705800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:98704000-98704400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:98704000-98705000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:98704000-98705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:98704000-98705000	Enhancers	HSMM	muscle
26	chr3:98704000-98705600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:98704200-98704600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:98704200-98704600	Enhancers	HUVEC	blood vessel
29	chr3:98704200-98705000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:98704200-98705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:98704200-98705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:98704200-98705600	Enhancers	HUES48 Cell Line	embryonic stem cell

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