Variant report

Variant	rs8017188
Chromosome Location	chr14:41098993-41098994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12883353	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12885164	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885322	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12892192	0.82[EUR][1000 genomes]
rs4625633	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7159010	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901664	chr14:40663978-41432350	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv901669	chr14:40832004-41432350	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv564463	chr14:40931087-41207433	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1054806	chr14:40936163-41211004	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1045757	chr14:40956143-41190589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1041122	chr14:40956143-41869421	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv832777	chr14:40957165-41154628	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv564464	chr14:40957542-41871875	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1044695	chr14:40959813-41234793	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv542051	chr14:40959813-41234793	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv534448	chr14:40960013-41634431	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv994955	chr14:41018728-41234652	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv901680	chr14:41023693-41115280	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1040945	chr14:41043918-41161543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv2760338	chr14:41043930-41173768	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv901681	chr14:41066674-41122838	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1046784	chr14:41081450-41225537	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv901682	chr14:41082183-41122838	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv901683	chr14:41082183-41178758	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv901684	chr14:41082183-41277956	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv1041446	chr14:41089513-41282762	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv542052	chr14:41089513-41282762	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv1052990	chr14:41089513-41575560	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv456217	chr14:41093228-41118098	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv564465	chr14:41093228-41118098	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv901685	chr14:41093228-41178758	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	nsv564466	chr14:41097663-41178758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv901686	chr14:41097663-41178758	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv901687	chr14:41097663-41194262	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
30	nsv901688	chr14:41097663-41277956	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
31	nsv901689	chr14:41097663-41296578	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41098200-41099400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:41098200-41099600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:41098200-41100400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:41098400-41099000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:41098400-41099400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:41098400-41099600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:41098400-41099800	Active TSS	K562	blood
8	chr14:41098400-41100400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:41098400-41100600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:41098600-41099400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:41098600-41099600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:41098600-41099800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:41098600-41099800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:41098600-41100400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:41098800-41099000	Enhancers	Placenta	Placenta
18	chr14:41098800-41099400	Active TSS	Right Ventricle	heart
19	chr14:41098800-41099400	Active TSS	Thymus	Thymus

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