Variant report

Variant	rs72725731
Chromosome Location	chr14:70234717-70234718
allele	C/T
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	YY1	chr14:70233472-70234782	SK-N-SH_RA	brain:	n/a	chr14:70234600-70234611 chr14:70233823-70233833 chr14:70234390-70234412 chr14:70234425-70234439 chr14:70234393-70234401 chr14:70234514-70234528 chr14:70234390-70234400 chr14:70234390-70234400 chr14:70233823-70233845
2	TEAD4	chr14:70233502-70234875	K562	blood:	n/a	n/a
3	MAX	chr14:70233463-70234818	H1-hESC	embryonic stem cell:	n/a	chr14:70234517-70234527
4	MYC	chr14:70233369-70234875	NB4	blood:	n/a	chr14:70234517-70234527
5	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
6	SIN3AK20	chr14:70233436-70234768	HCT-116	colon:	n/a	n/a
7	SIN3A	chr14:70233666-70235126	GM12878	blood:	n/a	chr14:70234404-70234415
8	EGR1	chr14:70234320-70234745	K562	blood:	n/a	chr14:70234432-70234441 chr14:70234516-70234526
9	CREB1	chr14:70233445-70234777	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
11	ELF1	chr14:70233175-70234820	HCT-116	colon:	n/a	chr14:70234514-70234526 chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
12	SIN3AK20	chr14:70234292-70234723	K562	blood:	n/a	n/a
13	NFIC	chr14:70233407-70234982	GM12878	blood:	n/a	n/a
14	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
15	EBF1	chr14:70234487-70234759	GM12878	blood:	n/a	n/a
16	TAF1	chr14:70233471-70234786	ECC-1	luminal epithelium:	n/a	n/a
17	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
18	POLR2A	chr14:70233440-70234807	GM12878	blood:	n/a	n/a
19	NFYB	chr14:70234327-70234885	GM12878	blood:	n/a	chr14:70234784-70234797
20	PAX5	chr14:70234218-70234742	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:70233421-70234987	GM19193	blood:	n/a	n/a
23	TAF1	chr14:70233476-70234791	MCF-7	breast:	n/a	n/a
24	TAF1	chr14:70233477-70234890	MCF-7	breast:	n/a	n/a
25	HEY1	chr14:70233452-70234932	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:70233459-70234908	HUVEC	blood vessel:	n/a	n/a
27	BACH1	chr14:70234396-70234740	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
29	GATA1	chr14:70233466-70235211	PBDE	blood:	n/a	n/a
30	YY1	chr14:70233620-70234780	NT2-D1	testis:	n/a	chr14:70234600-70234611 chr14:70233823-70233833 chr14:70234390-70234412 chr14:70234425-70234439 chr14:70234393-70234401 chr14:70234514-70234528 chr14:70234390-70234400 chr14:70234390-70234400 chr14:70233823-70233845
31	HEY1	chr14:70233437-70235979	K562	blood:	n/a	n/a
32	RCOR1	chr14:70233296-70234854	GM12878	blood:	n/a	n/a
33	CREB1	chr14:70233402-70234781	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:70233158-70234924	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
36	TCF12	chr14:70233517-70234777	ECC-1	luminal epithelium:	n/a	chr14:70234756-70234765
37	YY1	chr14:70233504-70234788	K562	blood:	n/a	chr14:70234600-70234611 chr14:70233823-70233833 chr14:70234390-70234412 chr14:70234425-70234439 chr14:70234393-70234401 chr14:70234514-70234528 chr14:70234390-70234400 chr14:70234390-70234400 chr14:70233823-70233845
38	POLR2A	chr14:70233423-70234783	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr14:70233224-70234993	K562	blood:	n/a	n/a
40	CEBPB	chr14:70234346-70234724	Hela-S3	cervix:	n/a	n/a
41	SP1	chr14:70233315-70234804	A549	lung:	n/a	chr14:70233661-70233675 chr14:70233667-70233677
42	TBL1XR1	chr14:70233333-70235272	GM12878	blood:	n/a	n/a
43	TBP	chr14:70233417-70234774	K562	blood:	n/a	n/a
44	YY1	chr14:70233428-70234746	H1-hESC	embryonic stem cell:	n/a	chr14:70234600-70234611 chr14:70233823-70233833 chr14:70234390-70234412 chr14:70234425-70234439 chr14:70234393-70234401 chr14:70234514-70234528 chr14:70234390-70234400 chr14:70234390-70234400 chr14:70233823-70233845
45	MAX	chr14:70234178-70234794	H1-hESC	embryonic stem cell:	n/a	chr14:70234517-70234527
46	ELF1	chr14:70233490-70234902	MCF-7	breast:	n/a	chr14:70234514-70234526 chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
47	POLR2A	chr14:70233370-70234809	GM12892	blood:	n/a	n/a
48	MAX	chr14:70233208-70234966	MCF-7	breast:	n/a	chr14:70234517-70234527
49	MAFK	chr14:70233769-70234812	K562	blood:	n/a	chr14:70234345-70234360
50	JUND	chr14:70233569-70234743	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
2	chr14:70233420..70235715-chr14:70270936..70274519,3	MCF-7	breast:
3	chr10:75012057..75013090-chr14:70233796..70234856,3	Hela-S3	cervix:
4	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
5	chr14:70234259..70234848-chr16:66967859..66968665,2	Hela-S3	cervix:
6	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
7	chr14:70233896..70235406-chr20:60696525..60698329,2	MCF-7	breast:
8	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
9	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
10	chr10:103454537..103455188-chr14:70234056..70234968,2	HCT-116	colon:
11	chr14:70234045..70234856-chr19:3572340..3573053,2	Hela-S3	cervix:
12	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
13	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
14	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
15	chr14:70233812..70234811-chr6:30584689..30585592,2	Hela-S3	cervix:
16	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
17	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
18	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000133997	Chromatin interaction
ENSG00000172831	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000149657	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000182180	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000064961	Chromatin interaction
ENSG00000107829	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000227540	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000166595	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000221060	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55672158	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72723898	1.00[AFR][1000 genomes]
rs72727904	1.00[AFR][1000 genomes]
rs72727917	1.00[AFR][1000 genomes];1.00[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3425903	chr14:70232649-70235147	Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:70233000-70234800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:70233000-70234800	Active TSS	Brain Anterior Caudate	brain
4	chr14:70233000-70234800	Active TSS	Brain Hippocampus Middle	brain
5	chr14:70233000-70234800	Active TSS	GM12878-XiMat	blood
6	chr14:70233000-70234800	Active TSS	HSMM	muscle
7	chr14:70233000-70235000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:70233000-70235000	Active TSS	Colonic Mucosa	Colon
9	chr14:70233000-70235000	Active TSS	HSMMtube	muscle
10	chr14:70233200-70234800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:70233200-70234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:70233200-70234800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:70233200-70234800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:70233200-70234800	Active TSS	Brain Germinal Matrix	brain
15	chr14:70233200-70234800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:70233200-70234800	Active TSS	NHDF-Ad	bronchial
17	chr14:70233200-70235000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:70233200-70235000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:70233200-70235000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70233200-70235000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:70233200-70235000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:70233200-70235000	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:70233200-70235000	Active TSS	Fetal Brain Male	brain
24	chr14:70233200-70235000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:70233200-70235000	Active TSS	Fetal Muscle Trunk	muscle
26	chr14:70233200-70235000	Active TSS	Left Ventricle	heart
27	chr14:70233200-70235200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:70233200-70235200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:70233200-70235200	Active TSS	Aorta	Aorta
30	chr14:70233200-70235200	Active TSS	Esophagus	oesophagus
31	chr14:70233200-70235200	Active TSS	Psoas Muscle	Psoas
32	chr14:70233200-70235200	Active TSS	Right Ventricle	heart
33	chr14:70233200-70235400	Active TSS	Right Atrium	heart
34	chr14:70233200-70236000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:70233200-70236200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:70233400-70234800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:70233400-70234800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:70233400-70234800	Active TSS	Primary T cells from cord blood	blood
39	chr14:70233400-70234800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:70233400-70234800	Active TSS	Colon Smooth Muscle	Colon
41	chr14:70233400-70234800	Active TSS	Fetal Intestine Large	intestine
42	chr14:70233400-70234800	Active TSS	Fetal Intestine Small	intestine
43	chr14:70233400-70234800	Active TSS	Fetal Stomach	stomach
44	chr14:70233400-70234800	Active TSS	Fetal Thymus	thymus
45	chr14:70233400-70234800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr14:70233400-70234800	Active TSS	Small Intestine	intestine
47	chr14:70233400-70234800	Active TSS	Thymus	Thymus
48	chr14:70233400-70234800	Active TSS	K562	blood
49	chr14:70233400-70235000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr14:70233400-70235000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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