Variant report

Variant	rs139057948
Chromosome Location	chr14:71067350-71067351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr14:71067169-71067527	HL-60	blood:	n/a	n/a
2	GABPA	chr14:71067240-71067488	Hela-S3	cervix:	n/a	n/a
3	ELF1	chr14:71067218-71067573	K562	blood:	n/a	n/a
4	POLR2A	chr14:71067270-71067678	A549	lung:	n/a	n/a
5	EGR1	chr14:71067307-71067875	K562	blood:	n/a	chr14:71067468-71067482 chr14:71067495-71067509
6	YY1	chr14:71066893-71067593	GM12892	blood:	n/a	n/a
7	GABPA	chr14:71067130-71067527	Hela-S3	cervix:	n/a	n/a
8	YY1	chr14:71067164-71067503	HCT-116	colon:	n/a	n/a
9	FOXA1	chr14:71067202-71067498	T-47D	breast:	n/a	n/a
10	MAZ	chr14:71067132-71067991	Hela-S3	cervix:	n/a	chr14:71067753-71067762
11	POLR2A	chr14:71067001-71067487	PFSK-1	brain:	n/a	n/a
12	MYC	chr14:71067243-71067557	MCF10A-Er-Src	breast:	n/a	n/a
13	SRF	chr14:71067222-71067467	GM12878	blood:	n/a	n/a
14	GABPA	chr14:71067225-71067557	HepG2	liver:	n/a	n/a
15	ETS1	chr14:71067195-71067464	A549	lung:	n/a	chr14:71067414-71067424
16	MAX	chr14:71067128-71067885	MCF-7	breast:	n/a	chr14:71067753-71067762
17	CHD2	chr14:71067184-71067595	Hela-S3	cervix:	n/a	n/a
18	SP4	chr14:71067143-71067477	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:71067341-71067444	Spleen_OC	spleen:	n/a	chr14:71067411-71067424
20	YY1	chr14:71067038-71067532	GM12891	blood:	n/a	n/a
21	TBL1XR1	chr14:71067187-71067449	K562	blood:	n/a	n/a
22	YY1	chr14:71067137-71067478	K562	blood:	n/a	n/a
23	JUND	chr14:71067107-71067743	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr14:71067249-71067472	K562	blood:	n/a	n/a
25	ELK4	chr14:71067042-71067465	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr14:71067200-71067556	GM12878	blood:	n/a	n/a
27	SIX5	chr14:71067208-71067467	GM12878	blood:	n/a	n/a
28	ATF1	chr14:71067205-71067572	K562	blood:	n/a	n/a
29	ELF1	chr14:71067112-71067523	GM12878	blood:	n/a	n/a
30	TAF1	chr14:71067201-71067471	GM12892	blood:	n/a	n/a
31	TBP	chr14:71067133-71067546	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr14:71067167-71067451	GM12891	blood:	n/a	n/a
33	POLR2A	chr14:71067158-71067819	K562	blood:	n/a	n/a
34	WRNIP1	chr14:71066787-71067385	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:71066955-71067495	SK-N-MC	brain:	n/a	n/a
36	PML	chr14:71067098-71067465	K562	blood:	n/a	n/a
37	YY1	chr14:71066914-71067475	GM12878	blood:	n/a	n/a
38	BRCA1	chr14:71067103-71067551	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr14:71066685-71067608	A549	lung:	n/a	n/a
40	BHLHE40	chr14:71067226-71067807	GM12878	blood:	n/a	n/a
41	POLR2A	chr14:71066959-71067912	U87	brain:	n/a	n/a
42	POLR2A	chr14:71067187-71067674	GM12878	blood:	n/a	n/a
43	TAF1	chr14:71067002-71067517	H1-neurons	neurons:	n/a	n/a
44	SIN3AK20	chr14:71067110-71067526	SK-N-SH	brain:	n/a	n/a
45	MTA3	chr14:71066968-71067551	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:71067002-71067757	H1-neurons	neurons:	n/a	n/a
47	CREB1	chr14:71067003-71067707	GM12878	blood:	n/a	n/a
48	TBP	chr14:71067127-71067451	GM12878	blood:	n/a	n/a
49	ELF1	chr14:71067080-71067707	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr14:71067111-71067482	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71067346-71067396	K562	blood:	n/a
2	chr14:71067346-71067396	SK-N-SH_RA	brain:	n/a
3	chr14:71067346-71067396	AG10803	skin:	n/a
4	chr14:71067346-71067396	HRPEpiC	eye:	n/a
5	chr14:71067346-71067396	HepG2	liver:	n/a
6	chr14:71067346-71067396	HIPEpiC	eye:	n/a
7	chr14:71067346-71067396	RPTEC	kidney:	n/a
8	chr14:71067346-71067396	IMR90	lung:	fetal
9	chr14:71067346-71067396	H1-hESC	embryonic stem cell:	embryo
10	chr14:71067346-71067396	Caco-2	colon:	n/a
11	chr14:71067346-71067396	HEEpiC	esophagus:	n/a
12	chr14:71067346-71067396	AoSMC	blood vessel:	n/a
13	chr14:71067346-71067396	HMEC	breast:	n/a
14	chr14:71067346-71067396	AG04450	lung:	fetal
15	chr14:71067346-71067396	NHDF-neo	bronchial:	n/a
16	chr14:71067346-71067396	HL-60	blood:	n/a
17	chr14:71067346-71067396	HAEpiC	amniotic membrane:	n/a
18	chr14:71067346-71067396	HRE	kidney:	n/a
19	chr14:71067346-71067396	U87	brain:	n/a
20	chr14:71067346-71067396	PANC-1	pancreas:	n/a
21	chr14:71067346-71067396	NHBE	bronchial:	n/a
22	chr14:71067346-71067396	HCT-116	colon:	n/a
23	chr14:71067346-71067396	AG04449	skin:	fetal
24	chr14:71067346-71067396	NH-A	brain:	n/a
25	chr14:71067346-71067396	CMK	blood:	n/a
26	chr14:71067346-71067396	Jurkat	blood:	n/a
27	chr14:71067346-71067396	AG09319	gingival:	n/a
28	chr14:71067346-71067396	NB4	blood:	n/a
29	chr14:71067346-71067396	LNCaP	prostate:	n/a
30	chr14:71067346-71067396	ProgFib	skin:	n/a
31	chr14:71067346-71067396	HRCEpiC	kidney:	n/a
32	chr14:71067346-71067396	AG09309	skin:	n/a
33	chr14:71067346-71067396	ovcar-3	ovarian:	n/a
34	chr14:71067346-71067396	HNPCEpiC	eye:	n/a
35	chr14:71067346-71067396	BE2_C	brain:	n/a
36	chr14:71067346-71067396	HUVEC	blood vessel:	n/a
37	chr14:71067346-71067396	BJ	skin:	n/a
38	chr14:71067346-71067396	GM06990	blood:	n/a
39	chr14:71067346-71067396	PFSK-1	brain:	n/a
40	chr14:71067346-71067396	A549	lung:	n/a
41	chr14:71067346-71067396	GM12892	blood:	n/a
42	chr14:71067346-71067396	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:71067346-71067396	T-47D	breast:	n/a
44	chr14:71067346-71067396	HCF	heart:	n/a
45	chr14:71067346-71067396	GM12878	blood:	n/a
46	chr14:71067346-71067396	Hela-S3	cervix:	n/a
47	chr14:71067346-71067396	SKMC	muscle:	n/a
48	chr14:71067346-71067396	PrEC	prostate:	n/a
49	chr14:71067346-71067396	MCF10A-Er-Src	breast:	n/a
50	chr14:71067346-71067396	GM19239	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71067301..71068269-chrX:47076747..47077411,2	Hela-S3	cervix:
2	chr14:71060891..71063654-chr14:71065972..71067588,2	MCF-7	breast:
3	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
4	chr14:71067268..71068123-chr15:65596906..65597786,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MED6	TF binding region
MED6	CpG island
ENSG00000200156	Chromatin interaction
ENSG00000258951	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000102225	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445059	chr14:71066799-71068647	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 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	chr14:71065600-71068400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71066000-71068200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:71066000-71068200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:71066000-71068400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:71066000-71068600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:71066200-71068000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:71066200-71068200	Active TSS	K562	blood
8	chr14:71066200-71068400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:71066400-71067800	Active TSS	Esophagus	oesophagus
10	chr14:71066400-71067800	Active TSS	Fetal Thymus	thymus
11	chr14:71066400-71067800	Active TSS	Lung	lung
12	chr14:71066400-71068000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:71066400-71068000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:71066400-71068000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:71066400-71068000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:71066400-71068000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:71066400-71068000	Active TSS	Aorta	Aorta
18	chr14:71066400-71068000	Active TSS	Fetal Intestine Small	intestine
19	chr14:71066400-71068000	Active TSS	Fetal Kidney	kidney
20	chr14:71066400-71068000	Active TSS	Fetal Muscle Trunk	muscle
21	chr14:71066400-71068000	Active TSS	Psoas Muscle	Psoas
22	chr14:71066400-71068000	Active TSS	A549	lung
23	chr14:71066400-71068000	Active TSS	NH-A	brain
24	chr14:71066400-71068200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71066400-71068200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:71066400-71068200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:71066400-71068200	Active TSS	Right Atrium	heart
28	chr14:71066400-71068200	Active TSS	HSMMtube	muscle
29	chr14:71066400-71068400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:71066600-71067400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:71066600-71067800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:71066600-71067800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:71066600-71067800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:71066600-71067800	Active TSS	Brain Hippocampus Middle	brain
35	chr14:71066600-71067800	Active TSS	Hela-S3	cervix
36	chr14:71066600-71067800	Active TSS	NHEK	skin
37	chr14:71066600-71068000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:71066600-71068000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:71066600-71068000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:71066600-71068000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:71066600-71068000	Active TSS	Fetal Intestine Large	intestine
42	chr14:71066600-71068000	Active TSS	Left Ventricle	heart
43	chr14:71066600-71068000	Active TSS	Ovary	ovary
44	chr14:71066600-71068000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:71066600-71068000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr14:71066600-71068000	Active TSS	Stomach Smooth Muscle	stomach
47	chr14:71066600-71068000	Active TSS	GM12878-XiMat	blood
48	chr14:71066600-71068000	Active TSS	HMEC	breast
49	chr14:71066600-71068000	Active TSS	NHDF-Ad	bronchial
50	chr14:71066600-71068200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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