Variant report

Variant	rs61343418
Chromosome Location	chr14:70234458-70234459
allele	G/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	TAF1	chr14:70233375-70234643	ECC-1	luminal epithelium:	n/a	n/a
2	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
3	TEAD4	chr14:70233502-70234875	K562	blood:	n/a	n/a
4	MAX	chr14:70233463-70234818	H1-hESC	embryonic stem cell:	n/a	chr14:70234517-70234527
5	MYC	chr14:70233369-70234875	NB4	blood:	n/a	chr14:70234517-70234527
6	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
7	SIN3AK20	chr14:70233436-70234768	HCT-116	colon:	n/a	n/a
8	SIN3A	chr14:70233666-70235126	GM12878	blood:	n/a	chr14:70234404-70234415
9	EGR1	chr14:70234320-70234745	K562	blood:	n/a	chr14:70234432-70234441 chr14:70234516-70234526
10	CREB1	chr14:70233445-70234777	HepG2	liver:	n/a	n/a
11	ELK1	chr14:70233468-70234569	GM12878	blood:	n/a	n/a
12	TEAD4	chr14:70233521-70234640	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
14	MYC	chr14:70234192-70234691	MCF-7	breast:	n/a	chr14:70234517-70234527
15	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
16	SIN3AK20	chr14:70234292-70234723	K562	blood:	n/a	n/a
17	JUND	chr14:70234224-70234634	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr14:70233407-70234982	GM12878	blood:	n/a	n/a
19	JUND	chr14:70234354-70234541	HepG2	liver:	n/a	n/a
20	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
21	TAF1	chr14:70233560-70234664	GM12892	blood:	n/a	n/a
22	EP300	chr14:70234250-70234612	T-47D	breast:	n/a	chr14:70234410-70234426
23	TAF1	chr14:70233471-70234786	ECC-1	luminal epithelium:	n/a	n/a
24	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
25	POLR2A	chr14:70233440-70234807	GM12878	blood:	n/a	n/a
26	MBD4	chr14:70233419-70234519	HepG2	liver:	n/a	n/a
27	NFYB	chr14:70234327-70234885	GM12878	blood:	n/a	chr14:70234784-70234797
28	PAX5	chr14:70234218-70234742	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:70233421-70234987	GM19193	blood:	n/a	n/a
31	TAF1	chr14:70233459-70234681	H1-neurons	neurons:	n/a	n/a
32	TAF1	chr14:70233476-70234791	MCF-7	breast:	n/a	n/a
33	TAF1	chr14:70233477-70234890	MCF-7	breast:	n/a	n/a
34	HEY1	chr14:70233452-70234932	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:70233459-70234908	HUVEC	blood vessel:	n/a	n/a
36	BACH1	chr14:70234396-70234740	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr14:70234357-70234598	MCF10A-Er-Src	breast:	n/a	chr14:70234517-70234527
38	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
39	BRCA1	chr14:70233565-70234665	GM12878	blood:	n/a	n/a
40	GATA1	chr14:70233466-70235211	PBDE	blood:	n/a	n/a
41	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
42	HEY1	chr14:70233437-70235979	K562	blood:	n/a	n/a
43	TEAD4	chr14:70233544-70234476	HepG2	liver:	n/a	n/a
44	RCOR1	chr14:70233296-70234854	GM12878	blood:	n/a	n/a
45	CREB1	chr14:70233402-70234781	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr14:70233158-70234924	Hela-S3	cervix:	n/a	n/a
47	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
48	TCF12	chr14:70233517-70234777	ECC-1	luminal epithelium:	n/a	chr14:70234756-70234765
49	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
50	POLR2A	chr14:70233423-70234783	SK-N-SH	brain:	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	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
4	chr10:75012057..75013090-chr14:70233796..70234856,3	Hela-S3	cervix:
5	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
6	chr14:70233607..70234603-chr20:62496350..62497153,2	Hela-S3	cervix:
7	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
8	chr14:70234259..70234848-chr16:66967859..66968665,2	Hela-S3	cervix:
9	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
10	chr14:70233896..70235406-chr20:60696525..60698329,2	MCF-7	breast:
11	chr14:70233834..70234634-chr7:5595667..5596496,2	NB4	blood:
12	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
13	chr14:70233880..70234560-chr2:109149866..109150829,2	Hela-S3	cervix:
14	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
15	chr14:70233883..70234516-chr14:75745155..75745696,2	Hela-S3	cervix:
16	chr10:103454537..103455188-chr14:70234056..70234968,2	HCT-116	colon:
17	chr14:70234045..70234856-chr19:3572340..3573053,2	Hela-S3	cervix:
18	chr1:236029915..236030447-chr14:70233796..70234711,2	Hela-S3	cervix:
19	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
20	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
21	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
22	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
23	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
24	chr14:70234049..70234581-chr17:46688359..46689314,2	Hela-S3	cervix:
25	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
26	chr14:70233812..70234811-chr6:30584689..30585592,2	Hela-S3	cervix:
27	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
28	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
29	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
30	chr10:95241567..95242547-chr14:70233878..70234588,2	Hela-S3	cervix:
31	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
32	chr11:10830166..10830873-chr14:70233647..70234607,2	Hela-S3	cervix:

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000149657	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000138119	Chromatin interaction
ENSG00000143669	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000107829	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000227540	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000214184	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000182180	Chromatin interaction
ENSG00000172831	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000064961	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000260027	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000166595	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1958085	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55663855	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58458032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401303	1.00[EUR][1000 genomes]
rs73283349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285211	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060546	1.00[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	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	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr14:70233000-70234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70233000-70234600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70233000-70234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:70233000-70234800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70233000-70234800	Active TSS	Brain Anterior Caudate	brain
8	chr14:70233000-70234800	Active TSS	Brain Hippocampus Middle	brain
9	chr14:70233000-70234800	Active TSS	GM12878-XiMat	blood
10	chr14:70233000-70234800	Active TSS	HSMM	muscle
11	chr14:70233000-70235000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:70233000-70235000	Active TSS	Colonic Mucosa	Colon
13	chr14:70233000-70235000	Active TSS	HSMMtube	muscle
14	chr14:70233200-70234600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:70233200-70234600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:70233200-70234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:70233200-70234600	Active TSS	A549	lung
18	chr14:70233200-70234800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:70233200-70234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:70233200-70234800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:70233200-70234800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:70233200-70234800	Active TSS	Brain Germinal Matrix	brain
23	chr14:70233200-70234800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:70233200-70234800	Active TSS	NHDF-Ad	bronchial
25	chr14:70233200-70235000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:70233200-70235000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:70233200-70235000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:70233200-70235000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr14:70233200-70235000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70233200-70235000	Active TSS	Brain Cingulate Gyrus	brain
31	chr14:70233200-70235000	Active TSS	Fetal Brain Male	brain
32	chr14:70233200-70235000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:70233200-70235000	Active TSS	Fetal Muscle Trunk	muscle
34	chr14:70233200-70235000	Active TSS	Left Ventricle	heart
35	chr14:70233200-70235200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:70233200-70235200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:70233200-70235200	Active TSS	Aorta	Aorta
38	chr14:70233200-70235200	Active TSS	Esophagus	oesophagus
39	chr14:70233200-70235200	Active TSS	Psoas Muscle	Psoas
40	chr14:70233200-70235200	Active TSS	Right Ventricle	heart
41	chr14:70233200-70235400	Active TSS	Right Atrium	heart
42	chr14:70233200-70236000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:70233200-70236200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:70233400-70234600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr14:70233400-70234800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:70233400-70234800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:70233400-70234800	Active TSS	Primary T cells from cord blood	blood
48	chr14:70233400-70234800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr14:70233400-70234800	Active TSS	Colon Smooth Muscle	Colon
50	chr14:70233400-70234800	Active TSS	Fetal Intestine Large	intestine

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