Variant report

Variant	rs72673315
Chromosome Location	chr14:39574138-39574139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39573913-39574428	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:39574122-39574294	HepG2	liver:	n/a	n/a
3	HEY1	chr14:39573603-39574507	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39573626-39574455	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:39573924-39574403	K562	blood:	n/a	n/a
6	POLR2A	chr14:39573561-39574514	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:39573751-39574332	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
2	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
3	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
4	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
5	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
6	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000258591	TF binding region
ENSG00000258591	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000165355	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[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs45469295	0.91[EUR][1000 genomes]
rs45469795	1.00[EUR][1000 genomes]
rs45540035	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	1.00[EUR][1000 genomes]
rs55880223	0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.91[EUR][1000 genomes]
rs55987939	0.87[EUR][1000 genomes]
rs55997577	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032918	0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56087094	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.93[EUR][1000 genomes]
rs56225696	0.87[EUR][1000 genomes]
rs56237815	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.87[EUR][1000 genomes]
rs56282196	0.91[EUR][1000 genomes]
rs56328886	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56341545	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.91[EUR][1000 genomes]
rs57248532	0.88[EUR][1000 genomes]
rs59418195	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6571907	0.82[EUR][1000 genomes]
rs67808375	1.00[EUR][1000 genomes]
rs67970726	0.83[EUR][1000 genomes]
rs7147914	0.91[EUR][1000 genomes]
rs7148908	0.88[EUR][1000 genomes]
rs7150638	0.92[EUR][1000 genomes]
rs7161065	0.82[EUR][1000 genomes]
rs72669383	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.87[EUR][1000 genomes]
rs72669400	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.87[EUR][1000 genomes]
rs72671307	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.85[EUR][1000 genomes]
rs72671311	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673317	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673318	0.98[EUR][1000 genomes]
rs72673328	0.96[EUR][1000 genomes]
rs72673329	0.96[EUR][1000 genomes]
rs72673339	0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.91[EUR][1000 genomes]
rs72673350	0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][1000 genomes];1.00[ASN][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:50 , 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	chr14:39573400-39574200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:39573400-39574200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr14:39573400-39574200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:39573400-39574200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:39573400-39574200	Enhancers	Colon Smooth Muscle	Colon
7	chr14:39573400-39574200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:39573400-39574200	Enhancers	Fetal Heart	heart
9	chr14:39573400-39574200	Enhancers	Fetal Intestine Large	intestine
10	chr14:39573400-39574200	Enhancers	Fetal Intestine Small	intestine
11	chr14:39573400-39574200	Enhancers	Fetal Muscle Leg	muscle
12	chr14:39573400-39574200	Enhancers	Fetal Stomach	stomach
13	chr14:39573400-39574200	Enhancers	Fetal Thymus	thymus
14	chr14:39573400-39574200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:39573400-39574200	Weak transcription	Small Intestine	intestine
16	chr14:39573400-39574200	Enhancers	Stomach Smooth Muscle	stomach
17	chr14:39573400-39574200	Enhancers	HMEC	breast
18	chr14:39573400-39574400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:39573400-39574400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:39573400-39578800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:39573400-39579000	Weak transcription	K562	blood
22	chr14:39573400-39582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:39573400-39583000	Weak transcription	HSMM	muscle
24	chr14:39573600-39574200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:39573600-39574200	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:39573600-39574200	Enhancers	NHEK	skin
27	chr14:39573600-39574200	Flanking Active TSS	NHLF	lung
28	chr14:39573800-39574200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:39573800-39574200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:39573800-39574400	Enhancers	Hela-S3	cervix
31	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
33	chr14:39574000-39574200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:39574000-39574200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:39574000-39574200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:39574000-39574200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:39574000-39574200	Enhancers	Aorta	Aorta
38	chr14:39574000-39574200	Enhancers	Esophagus	oesophagus
39	chr14:39574000-39574200	Enhancers	Dnd41	blood
40	chr14:39574000-39574200	Enhancers	NHDF-Ad	bronchial
41	chr14:39574000-39574400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:39574000-39574400	Enhancers	GM12878-XiMat	blood
43	chr14:39574000-39574400	Enhancers	HepG2	liver
44	chr14:39574000-39575000	Enhancers	Right Ventricle	heart
45	chr14:39574000-39576600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:39574000-39582400	Weak transcription	A549	lung
47	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach

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