Variant report

Variant	rs2470884
Chromosome Location	chr3:98623095-98623096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:98622941-98623547	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
DCBLD2	TF binding region
RNU6-1263P	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10935512	0.86[AFR][1000 genomes]
rs12330381	0.87[ASN][1000 genomes]
rs13094707	0.87[ASN][1000 genomes]
rs13318536	0.87[ASN][1000 genomes]
rs13318960	0.80[ASN][1000 genomes]
rs13327449	0.80[ASN][1000 genomes]
rs13327485	0.80[ASN][1000 genomes]
rs1351496	0.95[AFR][1000 genomes]
rs1383908	0.98[AFR][1000 genomes]
rs1440157	0.98[AFR][1000 genomes]
rs1531736	0.95[AFR][1000 genomes]
rs1600788	0.97[AFR][1000 genomes]
rs1818053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1972432	0.95[AFR][1000 genomes]
rs2128053	0.98[AFR][1000 genomes]
rs2133575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173598	0.98[AFR][1000 genomes]
rs2439230	0.86[AFR][1000 genomes]
rs2439234	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2439235	0.86[AFR][1000 genomes]
rs2448985	0.84[AFR][1000 genomes]
rs2454672	0.94[AFR][1000 genomes]
rs2454681	0.95[AFR][1000 genomes]
rs2454683	0.98[AFR][1000 genomes]
rs2454687	1.00[ASN][1000 genomes]
rs2454690	0.85[AFR][1000 genomes]
rs2470820	0.82[AFR][1000 genomes]
rs2470828	0.81[AFR][1000 genomes]
rs2470839	0.82[AFR][1000 genomes]
rs2470856	0.95[AFR][1000 genomes]
rs2470858	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2470866	0.85[AFR][1000 genomes]
rs2470868	0.98[AFR][1000 genomes]
rs2470874	0.88[AFR][1000 genomes]
rs2470883	0.98[AFR][1000 genomes]
rs28528154	0.80[ASN][1000 genomes]
rs28637457	0.87[ASN][1000 genomes]
rs28650813	0.80[ASN][1000 genomes]
rs28821579	0.87[ASN][1000 genomes]
rs28883308	0.80[ASN][1000 genomes]
rs2929491	0.82[AFR][1000 genomes]
rs34693680	0.87[ASN][1000 genomes]
rs4273318	0.98[AFR][1000 genomes]
rs4857107	0.92[AFR][1000 genomes]
rs5013928	0.98[AFR][1000 genomes]
rs6795351	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7373983	0.84[AFR][1000 genomes]
rs7621508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626395	0.88[AFR][1000 genomes]
rs7630797	0.92[AFR][1000 genomes]
rs828611	1.00[AMR][1000 genomes]
rs828622	0.81[AFR][1000 genomes]
rs866873	0.81[AFR][1000 genomes]
rs9289696	0.87[ASN][1000 genomes]
rs9289700	0.87[ASN][1000 genomes]
rs9819279	0.87[ASN][1000 genomes]
rs9819309	0.87[ASN][1000 genomes]
rs9828045	0.87[ASN][1000 genomes]
rs9842226	0.87[ASN][1000 genomes]
rs9848335	0.87[ASN][1000 genomes]
rs9850469	0.87[ASN][1000 genomes]
rs9852889	0.87[ASN][1000 genomes]
rs9859042	0.87[ASN][1000 genomes]
rs9864010	0.87[ASN][1000 genomes]
rs9872073	0.80[ASN][1000 genomes]
rs9872301	0.80[ASN][1000 genomes]
rs9879302	0.87[ASN][1000 genomes]
rs996199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	chr3:98621400-98625000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:98621600-98625000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:98621600-98625200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:98621600-98625400	Weak transcription	Psoas Muscle	Psoas
5	chr3:98621800-98623200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:98621800-98625000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:98621800-98625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:98621800-98625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:98621800-98625000	Weak transcription	Fetal Brain Male	brain
10	chr3:98621800-98625000	Weak transcription	Hela-S3	cervix
11	chr3:98621800-98625000	Weak transcription	HSMMtube	muscle
12	chr3:98622000-98624000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:98622000-98624000	Enhancers	NH-A	brain
14	chr3:98622000-98625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:98622000-98625000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:98622000-98625200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:98622200-98623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:98622200-98623200	Weak transcription	Fetal Heart	heart
19	chr3:98622200-98623600	Enhancers	NHEK	skin
20	chr3:98622200-98624000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:98622200-98625000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:98622200-98625000	Weak transcription	Fetal Lung	lung
23	chr3:98622200-98625000	Weak transcription	HMEC	breast
24	chr3:98622200-98625000	Weak transcription	HSMM	muscle
25	chr3:98622200-98625200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:98622600-98623800	Flanking Active TSS	A549	lung
27	chr3:98622800-98623400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:98622800-98623400	Enhancers	Osteobl	bone
29	chr3:98622800-98624400	Enhancers	NHLF	lung
30	chr3:98623000-98623200	Enhancers	HUVEC	blood vessel
31	chr3:98623000-98623200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr3:98623000-98628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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