Variant report

Variant	rs35319231
Chromosome Location	chr14:38080474-38080475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs12147674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12878124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12878633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12878710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12878846	1.00[AFR][1000 genomes]
rs12879149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12879319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12882123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12882687	1.00[AFR][1000 genomes]
rs12882773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12887471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12887601	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12887758	1.00[AFR][1000 genomes]
rs12888451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12889687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12889859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12890074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12890845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12891108	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12893402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12894394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12896790	1.00[AFR][1000 genomes]
rs12897309	1.00[AFR][1000 genomes]
rs17179274	1.00[AFR][1000 genomes]
rs17179609	1.00[AFR][1000 genomes]
rs17768440	1.00[AFR][1000 genomes]
rs17768654	1.00[AFR][1000 genomes]
rs177874	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs177879	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs177880	0.95[EUR][1000 genomes]
rs177881	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs177883	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs177884	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs177889	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs177900	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1957587	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs33984772	1.00[AFR][1000 genomes]
rs34025516	1.00[AFR][1000 genomes]
rs34030694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34043056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34069628	1.00[AFR][1000 genomes]
rs34184341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34242177	1.00[AFR][1000 genomes]
rs34256053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34265999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34273412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34304321	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34306117	1.00[AFR][1000 genomes]
rs34338696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34434018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34450997	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34469876	1.00[AFR][1000 genomes]
rs34472406	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34477874	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34496783	1.00[AFR][1000 genomes]
rs34516219	1.00[AFR][1000 genomes]
rs34543736	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34548330	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34565474	0.85[EUR][1000 genomes]
rs34567961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34586390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34680819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34740378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34747911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34813864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34830744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34886614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35030337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35074434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35082276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35110244	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35111962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35141852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35143297	0.84[EUR][1000 genomes]
rs35169093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35190835	1.00[AFR][1000 genomes]
rs35294705	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35310265	1.00[AFR][1000 genomes]
rs35330350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35333548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35347282	1.00[AFR][1000 genomes]
rs35350493	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35383091	1.00[AFR][1000 genomes]
rs35393462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35413274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35421306	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35427651	1.00[AFR][1000 genomes]
rs35435404	1.00[AFR][1000 genomes]
rs35438963	1.00[AFR][1000 genomes]
rs35441075	1.00[AFR][1000 genomes]
rs35454200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35470726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35505269	1.00[AFR][1000 genomes]
rs35536208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35610918	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35692567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35699962	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35706871	1.00[AFR][1000 genomes]
rs35748911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35791659	1.00[AFR][1000 genomes]
rs35802121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35852338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35891950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35926829	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35926928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35942161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36004540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36044547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36074427	1.00[AFR][1000 genomes]
rs36189403	1.00[AFR][1000 genomes]
rs36194865	1.00[AFR][1000 genomes]
rs4294721	0.87[EUR][1000 genomes]
rs4901143	0.95[EUR][1000 genomes]
rs55734217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55972477	1.00[AFR][1000 genomes]
rs56223359	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56271359	0.85[EUR][1000 genomes]
rs71405800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71407703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71407705	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71407716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71407717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407719	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407720	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407721	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407722	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71407723	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71407724	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71407725	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs71407726	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71407727	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs71407728	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407729	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71407730	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407731	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71407732	1.00[AFR][1000 genomes]
rs71407733	1.00[AFR][1000 genomes]
rs71407734	1.00[AFR][1000 genomes]
rs71407741	1.00[AFR][1000 genomes]
rs8017711	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv1054995	chr14:38078027-38138176	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38078800-38080800	Strong transcription	HepG2	liver
2	chr14:38079800-38080600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr14:38080000-38080800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:38080000-38080800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:38080000-38081000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:38080200-38080600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:38080200-38080600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:38080200-38080600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:38080200-38080600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:38080200-38080600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr14:38080200-38080600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr14:38080200-38080600	Bivalent/Poised TSS	NH-A	brain
13	chr14:38080200-38080800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:38080200-38080800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:38080200-38080800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:38080200-38080800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:38080200-38080800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:38080200-38080800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr14:38080200-38080800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr14:38080200-38080800	Bivalent/Poised TSS	NHEK	skin
21	chr14:38080200-38081000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:38080200-38081000	ZNF genes & repeats	Gastric	stomach
23	chr14:38080200-38081200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr14:38080200-38081400	Weak transcription	Liver	Liver
25	chr14:38080200-38084400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:38080400-38080600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:38080400-38080600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:38080400-38080600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:38080400-38080600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr14:38080400-38080600	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr14:38080400-38080600	Bivalent/Poised TSS	HUVEC	blood vessel
32	chr14:38080400-38080800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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