Variant report

Variant	rs539131534
Chromosome Location	chr14:70233783-70233784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:505)
CpG islands
(count:61)
Chromatin interactive
region (count:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	ELF1	chr14:70233498-70234083	HepG2	liver:	n/a	chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
3	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
4	TEAD4	chr14:70233502-70234875	K562	blood:	n/a	n/a
5	MAX	chr14:70233463-70234818	H1-hESC	embryonic stem cell:	n/a	chr14:70234517-70234527
6	EP300	chr14:70233547-70234099	T-47D	breast:	n/a	chr14:70233802-70233809
7	USF1	chr14:70233654-70234051	A549	lung:	n/a	n/a
8	ETS1	chr14:70233500-70234399	GM12878	blood:	n/a	chr14:70233801-70233810 chr14:70233802-70233812 chr14:70233801-70233810
9	MYC	chr14:70233588-70234134	MCF-7	breast:	n/a	n/a
10	MYC	chr14:70233369-70234875	NB4	blood:	n/a	chr14:70234517-70234527
11	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
12	EBF1	chr14:70233406-70233986	GM12878	blood:	n/a	n/a
13	HNF4A	chr14:70233523-70234150	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr14:70233436-70234768	HCT-116	colon:	n/a	n/a
15	SIN3A	chr14:70233666-70235126	GM12878	blood:	n/a	chr14:70234404-70234415
16	ZNF384	chr14:70233241-70234027	K562	blood:	n/a	n/a
17	CREB1	chr14:70233445-70234777	HepG2	liver:	n/a	n/a
18	ELK1	chr14:70233468-70234569	GM12878	blood:	n/a	n/a
19	TEAD4	chr14:70233521-70234640	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
21	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
22	SIX5	chr14:70233279-70234302	A549	lung:	n/a	n/a
23	CREB1	chr14:70233413-70234152	K562	blood:	n/a	n/a
24	GABPA	chr14:70233615-70233952	Hela-S3	cervix:	n/a	n/a
25	MYC	chr14:70233601-70234118	MCF-7	breast:	n/a	n/a
26	NFIC	chr14:70233407-70234982	GM12878	blood:	n/a	n/a
27	REST	chr14:70233713-70234053	Hela-S3	cervix:	n/a	n/a
28	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
29	YY1	chr14:70233645-70234012	HCT-116	colon:	n/a	chr14:70233823-70233833 chr14:70233823-70233845
30	TAF1	chr14:70233560-70234664	GM12892	blood:	n/a	n/a
31	TAF1	chr14:70233471-70234786	ECC-1	luminal epithelium:	n/a	n/a
32	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
33	POLR2A	chr14:70233440-70234807	GM12878	blood:	n/a	n/a
34	MBD4	chr14:70233419-70234519	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:70233282-70236036	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:70233421-70234987	GM19193	blood:	n/a	n/a
37	TAF1	chr14:70233459-70234681	H1-neurons	neurons:	n/a	n/a
38	TAF1	chr14:70233476-70234791	MCF-7	breast:	n/a	n/a
39	CEBPD	chr14:70233516-70234150	HepG2	liver:	n/a	n/a
40	TAF1	chr14:70233477-70234890	MCF-7	breast:	n/a	n/a
41	MAX	chr14:70233555-70234012	HepG2	liver:	n/a	n/a
42	HEY1	chr14:70233452-70234932	HepG2	liver:	n/a	n/a
43	ATF2	chr14:70233558-70234125	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:70233459-70234908	HUVEC	blood vessel:	n/a	n/a
45	FOS	chr14:70233549-70233899	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr14:70233443-70234008	A549	lung:	n/a	chr14:70233950-70233957
47	ETS1	chr14:70233701-70234005	K562	blood:	n/a	chr14:70233801-70233810 chr14:70233802-70233812 chr14:70233801-70233810
48	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
49	SP1	chr14:70233489-70234078	GM12878	blood:	n/a	chr14:70233661-70233675 chr14:70233667-70233677
50	BRCA1	chr14:70233565-70234665	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70233737-70233787	AG09319	gingival:	n/a
2	chr14:70233737-70233787	HMEC	breast:	n/a
3	chr14:70233737-70233787	GM19239	blood:	n/a
4	chr14:70233737-70233787	SK-N-MC	brain:	n/a
5	chr14:70233737-70233787	Hepatocyte	liver:	n/a
6	chr14:70233737-70233787	ovcar-3	ovarian:	n/a
7	chr14:70233737-70233787	HL-60	blood:	n/a
8	chr14:70233737-70233787	HCF	heart:	n/a
9	chr14:70233737-70233787	NT2-D1	testis:	n/a
10	chr14:70233737-70233787	AG09309	skin:	n/a
11	chr14:70233737-70233787	GM12892	blood:	n/a
12	chr14:70233737-70233787	T-47D	breast:	n/a
13	chr14:70233737-70233787	NHBE	bronchial:	n/a
14	chr14:70233737-70233787	NH-A	brain:	n/a
15	chr14:70233737-70233787	GM12878	blood:	n/a
16	chr14:70233737-70233787	SK-N-SH	brain:	n/a
17	chr14:70233737-70233787	SKMC	muscle:	n/a
18	chr14:70233737-70233787	NB4	blood:	n/a
19	chr14:70233737-70233787	HCM	heart:	n/a
20	chr14:70233737-70233787	SK-N-SH_RA	brain:	n/a
21	chr14:70233737-70233787	HCPEpiC	choroid plexus:	n/a
22	chr14:70233737-70233787	ProgFib	skin:	n/a
23	chr14:70233737-70233787	AG10803	skin:	n/a
24	chr14:70233737-70233787	SAEC	small airway:	n/a
25	chr14:70233737-70233787	AoSMC	blood vessel:	n/a
26	chr14:70233737-70233787	HRE	kidney:	n/a
27	chr14:70233737-70233787	HCT-116	colon:	n/a
28	chr14:70233737-70233787	HRCEpiC	kidney:	n/a
29	chr14:70233737-70233787	PANC-1	pancreas:	n/a
30	chr14:70233737-70233787	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:70233737-70233787	LNCaP	prostate:	n/a
32	chr14:70233737-70233787	HAEpiC	amniotic membrane:	n/a
33	chr14:70233737-70233787	ECC-1	luminal epithelium:	n/a
34	chr14:70233737-70233787	GM06990	blood:	n/a
35	chr14:70233737-70233787	Caco-2	colon:	n/a
36	chr14:70233737-70233787	Jurkat	blood:	n/a
37	chr14:70233737-70233787	BJ	skin:	n/a
38	chr14:70233737-70233787	HRPEpiC	eye:	n/a
39	chr14:70233737-70233787	HEEpiC	esophagus:	n/a
40	chr14:70233737-70233787	AG04450	lung:	fetal
41	chr14:70233737-70233787	AG04449	skin:	fetal
42	chr14:70233737-70233787	IMR90	lung:	fetal
43	chr14:70233737-70233787	K562	blood:	n/a
44	chr14:70233737-70233787	RPTEC	kidney:	n/a
45	chr14:70233737-70233787	GM12891	blood:	n/a
46	chr14:70233737-70233787	CMK	blood:	n/a
47	chr14:70233737-70233787	U87	brain:	n/a
48	chr14:70233737-70233787	BE2_C	brain:	n/a
49	chr14:70233737-70233787	PrEC	prostate:	n/a
50	chr14:70233737-70233787	PFSK-1	brain:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149859447..149860157-chr14:70233392..70234268,2	Hela-S3	cervix:
2	chr14:70233418..70234082-chr7:117823597..117824354,2	Hela-S3	cervix:
3	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
4	chr1:110880575..110881337-chr14:70233712..70234375,2	Hela-S3	cervix:
5	chr14:70233420..70235715-chr14:70270936..70274519,3	MCF-7	breast:
6	chr14:70233722..70234362-chr9:38068862..38069516,2	Hela-S3	cervix:
7	chr14:70233601..70234234-chr18:157797..158549,2	Hela-S3	cervix:
8	chr14:70233425..70234321-chr16:4474694..4475687,2	Hela-S3	cervix:
9	chr14:70233225..70234196-chr7:91569475..91570354,2	NB4	blood:
10	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
11	chr14:70233506..70234030-chr7:16685746..16686707,2	Hela-S3	cervix:
12	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
13	chr14:70233460..70234283-chr8:101322288..101322904,2	Hela-S3	cervix:
14	chr1:16840420..16841033-chr14:70233408..70233938,2	Hela-S3	cervix:
15	chr14:70233607..70234603-chr20:62496350..62497153,2	Hela-S3	cervix:
16	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
17	chr14:70233270..70234247-chr5:140044089..140044815,2	NB4	blood:
18	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
19	chr1:27319886..27320740-chr14:70233328..70234203,2	HCT-116	colon:
20	chr12:124457291..124457854-chr14:70233492..70234347,2	Hela-S3	cervix:
21	chr11:93474275..93475209-chr14:70233722..70234456,2	Hela-S3	cervix:
22	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
23	chr14:70233401..70234259-chr9:19380030..19380759,2	NB4	blood:
24	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
25	chr14:70233478..70234112-chr21:46237606..46238371,2	Hela-S3	cervix:
26	chr14:70233607..70234383-chr2:64880490..64881331,2	Hela-S3	cervix:
27	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
28	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
29	chr14:70077972..70078597-chr14:70233346..70233919,2	HCT-116	colon:
30	chr14:70233609..70234255-chrX:53448743..53449304,2	Hela-S3	cervix:
31	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
32	chr1:27022189..27022928-chr14:70233571..70234313,2	HCT-116	colon:
33	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
34	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
35	chr14:70233253..70234211-chr3:132440841..132441369,2	Hela-S3	cervix:
36	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
37	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
38	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
39	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
40	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
41	chr11:10830166..10830873-chr14:70233647..70234607,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A1-1	chr14:70233000-70234430	NONHSAT037537

No data

Variant related genes	Relation type
SRSF5	TF binding region
SRSF5	CpG island
ENSG00000221060	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000253368	Chromatin interaction
ENSG00000162775	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000101557	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000034677	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000262246	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000117713	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000128534	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000107338	Chromatin interaction
ENSG00000179833	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000120314	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000072501	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000127914	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	chr14:70232600-70233800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:70232800-70233800	Weak transcription	Spleen	Spleen
5	chr14:70233000-70233800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:70233000-70234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70233000-70234600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:70233000-70234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:70233000-70234800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:70233000-70234800	Active TSS	Brain Anterior Caudate	brain
14	chr14:70233000-70234800	Active TSS	Brain Hippocampus Middle	brain
15	chr14:70233000-70234800	Active TSS	GM12878-XiMat	blood
16	chr14:70233000-70234800	Active TSS	HSMM	muscle
17	chr14:70233000-70235000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:70233000-70235000	Active TSS	Colonic Mucosa	Colon
19	chr14:70233000-70235000	Active TSS	HSMMtube	muscle
20	chr14:70233200-70233800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:70233200-70233800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:70233200-70233800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:70233200-70233800	Flanking Active TSS	Placenta	Placenta
24	chr14:70233200-70234000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:70233200-70234600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:70233200-70234600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:70233200-70234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:70233200-70234600	Active TSS	A549	lung
29	chr14:70233200-70234800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:70233200-70234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:70233200-70234800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:70233200-70234800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:70233200-70234800	Active TSS	Brain Germinal Matrix	brain
34	chr14:70233200-70234800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:70233200-70234800	Active TSS	NHDF-Ad	bronchial
36	chr14:70233200-70235000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr14:70233200-70235000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:70233200-70235000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:70233200-70235000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr14:70233200-70235000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:70233200-70235000	Active TSS	Brain Cingulate Gyrus	brain
42	chr14:70233200-70235000	Active TSS	Fetal Brain Male	brain
43	chr14:70233200-70235000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:70233200-70235000	Active TSS	Fetal Muscle Trunk	muscle
45	chr14:70233200-70235000	Active TSS	Left Ventricle	heart
46	chr14:70233200-70235200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:70233200-70235200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:70233200-70235200	Active TSS	Aorta	Aorta
49	chr14:70233200-70235200	Active TSS	Esophagus	oesophagus
50	chr14:70233200-70235200	Active TSS	Psoas Muscle	Psoas

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