Variant report

Variant	rs2236983
Chromosome Location	chr3:50490244-50490245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11130250	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12490042	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12492113	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs13087550	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13099869	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027854	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236950	0.81[AMR][1000 genomes]
rs2236953	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236955	0.85[AMR][1000 genomes]
rs2236956	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2236958	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2236961	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236962	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236963	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236964	0.82[EUR][1000 genomes]
rs2236965	0.82[EUR][1000 genomes]
rs2236967	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236968	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236971	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236973	0.82[EUR][1000 genomes]
rs2236975	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236979	0.80[AMR][1000 genomes]
rs2236981	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236984	0.80[AMR][1000 genomes]
rs2236988	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2282754	0.81[AMR][1000 genomes]
rs2282756	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282758	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298955	0.85[AMR][1000 genomes]
rs4688719	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4688720	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6446206	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6787890	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6788459	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71326932	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743756	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs743757	0.82[EUR][1000 genomes]
rs743857	0.80[AMR][1000 genomes]
rs762895	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs762897	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs762898	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180034	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs916217	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs929047	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
5	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
7	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3445182	chr3:50458687-50496660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50482200-50493400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:50484000-50500800	Weak transcription	Pancreas	Pancrea
3	chr3:50487600-50493600	Weak transcription	Colonic Mucosa	Colon
4	chr3:50487600-50493800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:50488200-50491200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:50488200-50492200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:50488400-50490400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:50488400-50490600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:50488400-50491200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:50488400-50491200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:50488400-50491200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:50488400-50491200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:50488400-50491600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:50488400-50491800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:50488400-50492000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:50488400-50492400	Weak transcription	Gastric	stomach
17	chr3:50488400-50493400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:50488600-50491200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:50488600-50491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:50488600-50491600	Weak transcription	Fetal Stomach	stomach
21	chr3:50488600-50491800	Weak transcription	Fetal Lung	lung
22	chr3:50488600-50492200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:50488600-50494200	Weak transcription	Right Atrium	heart
24	chr3:50488600-50511200	Weak transcription	Lung	lung
25	chr3:50489200-50491400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:50489600-50491800	Weak transcription	Brain Anterior Caudate	brain

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