Variant report

Variant	rs4243600
Chromosome Location	chr14:55910679-55910680
allele	A/G
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:0)
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	chr14:55910650-55910700	HUVEC	blood vessel:	n/a
2	chr14:55910650-55910700	HIPEpiC	eye:	n/a
3	chr14:55910650-55910700	ProgFib	skin:	n/a
4	chr14:55910650-55910700	BE2_C	brain:	n/a
5	chr14:55910650-55910700	HL-60	blood:	n/a
6	chr14:55910650-55910700	HCF	heart:	n/a
7	chr14:55910650-55910700	AoSMC	blood vessel:	n/a
8	chr14:55910650-55910700	H1-hESC	embryonic stem cell:	embryo
9	chr14:55910650-55910700	NH-A	brain:	n/a
10	chr14:55910650-55910700	MCF10A-Er-Src	breast:	n/a
11	chr14:55910650-55910700	AG09309	skin:	n/a
12	chr14:55910650-55910700	GM12892	blood:	n/a
13	chr14:55910650-55910700	Hepatocyte	liver:	n/a
14	chr14:55910650-55910700	AG04450	lung:	fetal
15	chr14:55910650-55910700	GM12878	blood:	n/a
16	chr14:55910650-55910700	HCPEpiC	choroid plexus:	n/a
17	chr14:55910650-55910700	CMK	blood:	n/a
18	chr14:55910650-55910700	Caco-2	colon:	n/a
19	chr14:55910650-55910700	NHDF-neo	bronchial:	n/a
20	chr14:55910650-55910700	RPTEC	kidney:	n/a
21	chr14:55910650-55910700	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:55910650-55910700	HRE	kidney:	n/a
23	chr14:55910650-55910700	K562	blood:	n/a
24	chr14:55910650-55910700	PFSK-1	brain:	n/a
25	chr14:55910650-55910700	HEEpiC	esophagus:	n/a
26	chr14:55910650-55910700	HRPEpiC	eye:	n/a
27	chr14:55910650-55910700	HAEpiC	amniotic membrane:	n/a
28	chr14:55910650-55910700	HCT-116	colon:	n/a
29	chr14:55910650-55910700	U87	brain:	n/a
30	chr14:55910650-55910700	AG04449	skin:	fetal
31	chr14:55910650-55910700	A549	lung:	n/a
32	chr14:55910650-55910700	NB4	blood:	n/a
33	chr14:55910650-55910700	HEK293	kidney:	embryo
34	chr14:55910650-55910700	BJ	skin:	n/a
35	chr14:55910650-55910700	HNPCEpiC	eye:	n/a
36	chr14:55910650-55910700	GM06990	blood:	n/a
37	chr14:55910650-55910700	AG10803	skin:	n/a
38	chr14:55910650-55910700	NHBE	bronchial:	n/a
39	chr14:55910650-55910700	T-47D	breast:	n/a
40	chr14:55910650-55910700	ECC-1	luminal epithelium:	n/a
41	chr14:55910650-55910700	SKMC	muscle:	n/a
42	chr14:55910650-55910700	SAEC	small airway:	n/a
43	chr14:55910650-55910700	AG09319	gingival:	n/a
44	chr14:55910650-55910700	SK-N-MC	brain:	n/a
45	chr14:55910650-55910700	GM12891	blood:	n/a
46	chr14:55910650-55910700	ovcar-3	ovarian:	n/a
47	chr14:55910650-55910700	NT2-D1	testis:	n/a
48	chr14:55910650-55910700	LNCaP	prostate:	n/a
49	chr14:55910650-55910700	HepG2	liver:	n/a
50	chr14:55910650-55910700	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
TBPL2	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10131672	0.82[ASN][1000 genomes]
rs10134905	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137395	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144034	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144130	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146713	0.98[ASN][1000 genomes]
rs10150596	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150617	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10782426	0.89[EUR][1000 genomes]
rs11158040	0.98[ASN][1000 genomes]
rs11627405	0.96[ASN][1000 genomes]
rs11627790	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11845228	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12431542	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886860	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887653	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887846	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12888181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888191	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12888234	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12888361	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893964	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1572613	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152975	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185036	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28478984	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34652660	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4898864	0.89[ASN][1000 genomes]
rs4898865	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4901562	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4901563	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901564	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901565	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4901566	0.98[ASN][1000 genomes]
rs4901567	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4901568	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901569	0.99[ASN][1000 genomes]
rs4901570	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56015424	0.87[EUR][1000 genomes]
rs61976569	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61976571	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573028	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573029	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573030	0.98[ASN][1000 genomes]
rs6573031	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573032	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573033	0.96[ASN][1000 genomes]
rs713477	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7142204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143800	0.97[ASN][1000 genomes]
rs7146080	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146170	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146269	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146306	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147415	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7147968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148481	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149317	0.81[ASN][1000 genomes]
rs7149622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717779	0.87[EUR][1000 genomes]
rs8009706	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010013	0.88[EUR][1000 genomes]
rs8014526	0.88[EUR][1000 genomes]
rs8014621	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019270	0.99[ASN][1000 genomes]
rs8020152	1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955256	0.96[ASN][1000 genomes]
rs955257	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9635231	0.85[EUR][1000 genomes]
rs998871	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55906400-55913400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55907200-55912800	Weak transcription	Fetal Heart	heart
3	chr14:55910400-55913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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