Variant report

Variant	rs72673317
Chromosome Location	chr14:39579193-39579194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2C	chr14:39578934-39579441	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:39579058-39579458	GM12892	blood:	n/a	n/a
3	MEF2A	chr14:39578979-39579444	GM12878	blood:	n/a	n/a
4	ATF2	chr14:39578944-39579482	GM12878	blood:	n/a	n/a
5	NFIC	chr14:39578922-39579464	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:39579131-39579378	GM12891	blood:	n/a	n/a
7	MEF2A	chr14:39578913-39579321	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr14:39579062-39579408	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:39579096-39579408	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:39579045-39579564	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39570986..39573343-chr14:39579175..39581108,3	MCF-7	breast:
2	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
3	chr14:39579122..39580804-chr14:39643639..39645795,2	MCF-7	breast:
4	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
5	chr14:39578856..39580963-chr14:39581859..39584324,3	K562	blood:
6	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC23A-3	chr14:39579098-39579575	NONHSAT036513
2	lnc-SEC23A-3	chr14:39579098-39579575	NONHSAT036514

No data

Variant related genes	Relation type
GEMIN2	TF binding region
SEC23A	TF binding region
ENSG00000092208	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000100941	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.82[EUR][1000 genomes]
rs17108815	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469295	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45469795	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540035	0.98[EUR][1000 genomes]
rs55790340	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55987939	0.87[EUR][1000 genomes]
rs55997577	0.98[EUR][1000 genomes]
rs56032918	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes]
rs56074634	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087094	0.89[EUR][1000 genomes]
rs56103446	0.98[EUR][1000 genomes]
rs56125789	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56136756	0.89[EUR][1000 genomes]
rs56225465	0.93[EUR][1000 genomes]
rs56225696	0.87[EUR][1000 genomes]
rs56237815	0.89[EUR][1000 genomes]
rs56276842	0.87[EUR][1000 genomes]
rs56282196	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56328886	0.89[EUR][1000 genomes]
rs56333870	0.95[EUR][1000 genomes]
rs56334607	0.89[EUR][1000 genomes]
rs56335002	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341545	0.89[EUR][1000 genomes]
rs56404404	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57248532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59418195	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6571907	0.82[EUR][1000 genomes]
rs67808375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970726	0.83[EUR][1000 genomes]
rs7147914	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7148908	0.88[EUR][1000 genomes]
rs7150638	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161065	0.82[EUR][1000 genomes]
rs72669383	0.80[EUR][1000 genomes]
rs72669388	0.89[EUR][1000 genomes]
rs72669397	0.89[EUR][1000 genomes]
rs72669399	0.87[EUR][1000 genomes]
rs72669400	0.87[EUR][1000 genomes]
rs72671304	0.87[EUR][1000 genomes]
rs72671307	0.87[EUR][1000 genomes]
rs72671309	0.85[EUR][1000 genomes]
rs72671311	0.87[EUR][1000 genomes]
rs72671316	0.89[EUR][1000 genomes]
rs72671332	0.87[EUR][1000 genomes]
rs72671333	0.89[EUR][1000 genomes]
rs72671344	0.89[EUR][1000 genomes]
rs72671349	0.89[EUR][1000 genomes]
rs72671353	0.89[EUR][1000 genomes]
rs72671360	0.93[EUR][1000 genomes]
rs72671362	0.93[EUR][1000 genomes]
rs72671367	0.93[EUR][1000 genomes]
rs72671372	0.98[EUR][1000 genomes]
rs72671379	0.98[EUR][1000 genomes]
rs72671382	0.98[EUR][1000 genomes]
rs72671387	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72671398	0.98[EUR][1000 genomes]
rs72671400	0.98[EUR][1000 genomes]
rs72673307	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673314	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72673315	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673316	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673318	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673328	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673329	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673339	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673350	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv983817	chr14:39577051-39579335	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39573400-39582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:39573400-39583000	Weak transcription	HSMM	muscle
3	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
5	chr14:39574000-39582400	Weak transcription	A549	lung
6	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach
10	chr14:39574200-39582400	Weak transcription	Dnd41	blood
11	chr14:39574200-39583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:39574400-39582400	Weak transcription	Hela-S3	cervix
13	chr14:39574400-39582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:39577200-39582400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:39577200-39582800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:39577600-39582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:39578600-39579400	Active TSS	Ovary	ovary
18	chr14:39578600-39579800	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr14:39578800-39579800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:39579000-39579200	Active TSS	HepG2	liver
21	chr14:39579000-39579200	Active TSS	K562	blood
22	chr14:39579000-39579400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:39579000-39579600	Active TSS	Duodenum Mucosa	Duodenum
24	chr14:39579000-39579600	Flanking Active TSS	GM12878-XiMat	blood

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