Variant report

Variant	rs72673316
Chromosome Location	chr14:39576659-39576660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:39576564-39577217	SK-N-SH	brain:	n/a	chr14:39576932-39576951
2	SMC3	chr14:39576610-39577121	SK-N-SH	brain:	n/a	chr14:39576933-39576947
3	CTCF	chr14:39576417-39577386	A549	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
4	CTCF	chr14:39576582-39577150	HepG2	liver:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
5	RAD21	chr14:39576603-39577213	MCF-7	breast:	n/a	chr14:39576932-39576951
6	RAD21	chr14:39576509-39577318	HepG2	liver:	n/a	chr14:39576932-39576951
7	CTCF	chr14:39576588-39577204	HCT-116	colon:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
8	TEAD4	chr14:39576234-39577308	HepG2	liver:	n/a	n/a
9	RAD21	chr14:39576605-39577243	A549	lung:	n/a	chr14:39576932-39576951
10	FOXA1	chr14:39576641-39577087	HepG2	liver:	n/a	n/a
11	CTCF	chr14:39576602-39577186	K562	blood:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
12	CTCF	chr14:39576636-39577217	MCF-7	breast:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948
13	RAD21	chr14:39576565-39577215	HCT-116	colon:	n/a	chr14:39576932-39576951
14	CTCF	chr14:39576631-39577137	IMR90	lung:	n/a	chr14:39576931-39576949 chr14:39576933-39576954 chr14:39576934-39576947 chr14:39576932-39576948

No.	Distal block	Cell Line	Cell type
1	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
2	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
3	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:
4	chr14:39576445..39577337-chr14:39837299..39838237,4	MCF-7	breast:
5	chr14:39576496..39577290-chr14:39837297..39837967,2	K562	blood:
6	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:

Variant related genes	Relation type
ENSG00000258591	TF binding region
SEC23A	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483540	0.82[EUR][1000 genomes]
rs17108815	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469295	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45469795	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540035	0.98[EUR][1000 genomes]
rs55790340	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55987939	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55997577	0.98[EUR][1000 genomes]
rs56032918	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes]
rs56074634	0.82[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[AFR][1000 genomes];0.84[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	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56282196	0.85[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	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341545	0.89[EUR][1000 genomes]
rs56404404	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57248532	0.88[EUR][1000 genomes]
rs59418195	0.82[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	0.85[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	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72671382	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72671387	0.98[EUR][1000 genomes]
rs72671398	0.98[EUR][1000 genomes]
rs72671400	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72673307	0.88[EUR][1000 genomes]
rs72673314	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72673315	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673318	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673328	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673329	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673339	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673350	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39573200-39577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:39573400-39578800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:39573400-39579000	Weak transcription	K562	blood
4	chr14:39573400-39582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:39573400-39583000	Weak transcription	HSMM	muscle
6	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
8	chr14:39574000-39582400	Weak transcription	A549	lung
9	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach
13	chr14:39574200-39576800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:39574200-39582400	Weak transcription	Dnd41	blood
15	chr14:39574200-39583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:39574400-39576800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:39574400-39576800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:39574400-39578400	Weak transcription	GM12878-XiMat	blood
19	chr14:39574400-39582400	Weak transcription	Hela-S3	cervix
20	chr14:39574400-39582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:39576400-39577200	Enhancers	Fetal Intestine Large	intestine
22	chr14:39576400-39578000	Enhancers	HepG2	liver
23	chr14:39576600-39577200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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