Variant report

Variant	rs221416
Chromosome Location	chr14:80045666-80045667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10133983	1.00[YRI][hapmap]
rs10136332	0.89[YRI][hapmap]
rs12433645	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1364603	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs170248	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs170255	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs17109661	0.88[YRI][hapmap]
rs172712	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs178348	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17836224	0.81[CEU][hapmap];0.87[CHB][hapmap];0.83[EUR][1000 genomes]
rs17836226	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1834242	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs188780	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs190092	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1991158	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2008380	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221418	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221420	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs221421	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs221423	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs221427	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221428	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs221429	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs221430	0.83[ASW][hapmap];0.88[CEU][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs221431	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs221432	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221434	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221435	0.88[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221518	0.86[EUR][1000 genomes]
rs2543570	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2543572	0.80[EUR][1000 genomes]
rs2543574	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2543576	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2543577	0.91[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2543579	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2543580	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2543581	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2543582	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2552407	0.85[EUR][1000 genomes]
rs2552416	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2552419	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7140480	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009763	0.83[EUR][1000 genomes]
rs8013736	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80039800-80046200	Weak transcription	HSMMtube	muscle
3	chr14:80040000-80049400	Weak transcription	HSMM	muscle
4	chr14:80041800-80046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:80043200-80047000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:80043400-80046800	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:80044800-80047600	Weak transcription	A549	lung
10	chr14:80045000-80046600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:80045000-80047400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:80045000-80052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:80045000-80052200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:80045200-80046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:80045200-80046800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:80045200-80046800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:80045200-80046800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:80045200-80046800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:80045200-80046800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:80045200-80046800	Weak transcription	NH-A	brain
21	chr14:80045200-80047400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:80045200-80048400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:80045200-80048400	Weak transcription	Osteobl	bone
24	chr14:80045200-80049400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:80045200-80050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:80045400-80045800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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