Variant report

Variant	rs1991158
Chromosome Location	chr14:80018353-80018354
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	chr14:80018191..80021124-chr14:80031002..80033246,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10133983	1.00[YRI][hapmap]
rs10136332	0.89[YRI][hapmap]
rs12433645	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1364603	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs170248	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs170255	0.88[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17109661	0.88[YRI][hapmap]
rs172712	0.84[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs178348	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17836224	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs17836226	0.83[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs1834242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188780	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs190092	0.83[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2008380	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221416	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]
rs221418	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221420	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221421	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs221423	1.00[ASW][hapmap];0.92[CEU][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221427	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs221428	0.88[CEU][hapmap]
rs221429	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs221430	0.83[ASW][hapmap];0.85[CEU][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs221431	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs221432	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs221434	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs221435	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs221518	0.80[EUR][1000 genomes]
rs2543570	0.85[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2543574	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2543576	0.88[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2543577	0.91[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2543579	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2543580	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2543581	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2543582	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2552407	0.80[EUR][1000 genomes]
rs2552416	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2552419	0.88[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140480	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013736	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80010800-80019000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:80011000-80018800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
5	chr14:80015800-80021000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:80016000-80019200	Weak transcription	NH-A	brain
7	chr14:80016400-80019400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:80017600-80020000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:80017600-80020200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:80017800-80018400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:80017800-80019400	Weak transcription	Fetal Kidney	kidney
12	chr14:80018000-80018400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:80018000-80018400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:80018000-80018400	Enhancers	HSMM	muscle
15	chr14:80018000-80019800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:80018000-80020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:80018000-80020000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:80018000-80020000	Enhancers	Fetal Intestine Large	intestine
19	chr14:80018000-80020400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:80018000-80020600	Enhancers	Hela-S3	cervix
21	chr14:80018200-80018800	Weak transcription	HSMMtube	muscle
22	chr14:80018200-80019400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:80018200-80020400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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