Variant report

Variant	rs6114094
Chromosome Location	chr20:23434267-23434268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23434244-23434294	HPAEpiC	pulmonary alveolar:	n/a
2	chr20:23434244-23434294	AG09319	gingival:	n/a
3	chr20:23434244-23434294	AG09309	skin:	n/a
4	chr20:23434244-23434294	GM12892	blood:	n/a
5	chr20:23434244-23434294	HAEpiC	amniotic membrane:	n/a
6	chr20:23434244-23434294	NHBE	bronchial:	n/a
7	chr20:23434244-23434294	ovcar-3	ovarian:	n/a
8	chr20:23434244-23434294	A549	lung:	n/a
9	chr20:23434244-23434294	K562	blood:	n/a
10	chr20:23434244-23434294	NT2-D1	testis:	n/a
11	chr20:23434244-23434294	NHDF-neo	bronchial:	n/a
12	chr20:23434244-23434294	HCT-116	colon:	n/a
13	chr20:23434244-23434294	HL-60	blood:	n/a
14	chr20:23434244-23434294	NB4	blood:	n/a
15	chr20:23434244-23434294	SKMC	muscle:	n/a
16	chr20:23434244-23434294	PANC-1	pancreas:	n/a
17	chr20:23434244-23434294	PrEC	prostate:	n/a
18	chr20:23434244-23434294	AoSMC	blood vessel:	n/a
19	chr20:23434244-23434294	SK-N-SH	brain:	n/a
20	chr20:23434244-23434294	BE2_C	brain:	n/a
21	chr20:23434244-23434294	RPTEC	kidney:	n/a
22	chr20:23434244-23434294	HUVEC	blood vessel:	n/a
23	chr20:23434244-23434294	U87	brain:	n/a
24	chr20:23434244-23434294	ECC-1	luminal epithelium:	n/a
25	chr20:23434244-23434294	Hepatocyte	liver:	n/a
26	chr20:23434244-23434294	GM12878	blood:	n/a
27	chr20:23434244-23434294	NH-A	brain:	n/a
28	chr20:23434244-23434294	H1-hESC	embryonic stem cell:	embryo
29	chr20:23434244-23434294	HRCEpiC	kidney:	n/a
30	chr20:23434244-23434294	SK-N-MC	brain:	n/a
31	chr20:23434244-23434294	T-47D	breast:	n/a
32	chr20:23434244-23434294	Caco-2	colon:	n/a
33	chr20:23434244-23434294	HCPEpiC	choroid plexus:	n/a
34	chr20:23434244-23434294	GM19239	blood:	n/a
35	chr20:23434244-23434294	HEEpiC	esophagus:	n/a
36	chr20:23434244-23434294	IMR90	lung:	fetal
37	chr20:23434244-23434294	BJ	skin:	n/a
38	chr20:23434244-23434294	CMK	blood:	n/a
39	chr20:23434244-23434294	AG04449	skin:	fetal
40	chr20:23434244-23434294	HIPEpiC	eye:	n/a
41	chr20:23434244-23434294	HCM	heart:	n/a
42	chr20:23434244-23434294	HCF	heart:	n/a
43	chr20:23434244-23434294	HMEC	breast:	n/a
44	chr20:23434244-23434294	ProgFib	skin:	n/a
45	chr20:23434244-23434294	HRPEpiC	eye:	n/a
46	chr20:23434244-23434294	SAEC	small airway:	n/a
47	chr20:23434244-23434294	GM06990	blood:	n/a
48	chr20:23434244-23434294	LNCaP	prostate:	n/a
49	chr20:23434244-23434294	HEK293	kidney:	embryo
50	chr20:23434244-23434294	MCF-7	breast:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:

No data

Variant related genes	Relation type
CST11	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1076776	0.81[ASN][1000 genomes]
rs12625160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12625164	0.84[JPT][hapmap]
rs12625999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12626013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17757228	0.89[JPT][hapmap]
rs17830281	0.89[JPT][hapmap]
rs17830565	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1936011	0.89[JPT][hapmap]
rs2073300	1.00[CEU][hapmap]
rs2207988	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2207989	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236021	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277765	0.81[ASN][1000 genomes]
rs2281428	0.89[JPT][hapmap]
rs2295238	0.89[JPT][hapmap]
rs28407103	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34449811	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34740966	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35810824	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36165478	0.81[ASN][1000 genomes]
rs3736755	0.89[JPT][hapmap]
rs3746733	0.89[JPT][hapmap]
rs3746737	0.80[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3761275	0.88[JPT][hapmap]
rs3827085	0.84[JPT][hapmap]
rs57021299	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59283536	0.88[ASN][1000 genomes]
rs6036411	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036422	0.88[ASN][1000 genomes]
rs6036423	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6036424	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6048803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048809	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048810	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048811	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048813	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048820	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048822	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs6048824	0.88[ASN][1000 genomes]
rs6048825	0.88[ASN][1000 genomes]
rs6048826	0.88[ASN][1000 genomes]
rs6048833	0.88[ASN][1000 genomes]
rs6048834	0.88[ASN][1000 genomes]
rs6048835	0.88[ASN][1000 genomes]
rs6083135	1.00[CEU][hapmap]
rs6083136	0.84[AMR][1000 genomes]
rs6106655	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6106656	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106667	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6106669	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs61080017	0.88[ASN][1000 genomes]
rs6114098	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6114100	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6114101	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6114126	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114135	0.88[ASN][1000 genomes]
rs6114136	0.81[ASN][1000 genomes]
rs6114137	0.81[ASN][1000 genomes]
rs6114138	0.87[ASN][1000 genomes]
rs6114139	0.88[ASN][1000 genomes]
rs6114141	1.00[CEU][hapmap];0.88[ASN][1000 genomes]
rs6114142	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6114144	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6132600	0.84[JPT][hapmap]
rs6132605	0.83[JPT][hapmap]
rs6132620	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132626	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132628	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132629	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6132630	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6132631	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6137907	0.89[JPT][hapmap]
rs6137910	0.89[JPT][hapmap]
rs6137913	0.89[JPT][hapmap]
rs6137915	0.89[JPT][hapmap]
rs6137917	0.84[JPT][hapmap]
rs6137919	0.88[JPT][hapmap]
rs6137920	0.95[JPT][hapmap]
rs6137927	0.89[JPT][hapmap]
rs6137929	0.89[JPT][hapmap]
rs6137930	0.89[JPT][hapmap]
rs6137931	0.89[JPT][hapmap]
rs6137936	0.89[JPT][hapmap]
rs6137938	0.89[JPT][hapmap]
rs6137939	0.89[JPT][hapmap]
rs6137945	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs6137947	0.89[JPT][hapmap]
rs6137951	0.83[ASN][1000 genomes]
rs6137957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137960	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137962	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137963	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137964	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137967	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6137971	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6137976	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137977	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137980	0.83[EUR][1000 genomes]
rs6137982	0.83[EUR][1000 genomes]
rs6137983	0.83[EUR][1000 genomes]
rs6137984	0.83[EUR][1000 genomes]
rs8183135	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv979404	chr20:23429655-23455778	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1057992	chr20:23430887-23565333	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv544215	chr20:23430887-23565333	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	esv3405547	chr20:23432652-23436950	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6114094	NXT1	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23430400-23436200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr20:23430600-23435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:23432000-23434600	Weak transcription	Pancreas	Pancrea
6	chr20:23432600-23446000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr20:23433800-23437000	Weak transcription	Fetal Stomach	stomach
8	chr20:23434000-23440400	Enhancers	Fetal Thymus	thymus
9	chr20:23434200-23434600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr20:23434200-23434600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23434200-23434600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:23434200-23434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:23434200-23435200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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