Variant report

Variant	rs570988488
Chromosome Location	chr14:69619755-69619756
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	EP300	chr14:69619656-69620042	SK-N-SH_RA	brain:	n/a	chr14:69619977-69619993
2	POLR2A	chr14:69619512-69620416	U87	brain:	n/a	n/a
3	ELF1	chr14:69619730-69620208	HepG2	liver:	n/a	chr14:69619950-69619963 chr14:69619951-69619960
4	POLR2A	chr14:69619246-69620290	K562	blood:	n/a	n/a
5	RCOR1	chr14:69619545-69620172	Hela-S3	cervix:	n/a	n/a
6	MAX	chr14:69619626-69620195	SK-N-SH	brain:	n/a	n/a
7	CCNT2	chr14:69619500-69620423	K562	blood:	n/a	chr14:69620011-69620020
8	POLR2A	chr14:69619497-69620252	GM10847	blood:	n/a	n/a
9	POLR2A	chr14:69619737-69620181	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr14:69619497-69620276	MCF10A-Er-Src	breast:	n/a	n/a
11	SP1	chr14:69619590-69620670	A549	lung:	n/a	chr14:69619871-69619882 chr14:69619969-69619982 chr14:69620010-69620024 chr14:69619896-69619907 chr14:69619911-69619922 chr14:69620011-69620020 chr14:69620009-69620021 chr14:69620010-69620019 chr14:69619897-69619911 chr14:69620442-69620456 chr14:69620009-69620021 chr14:69620305-69620317
12	ETS1	chr14:69619675-69620093	K562	blood:	n/a	chr14:69619969-69619985 chr14:69619949-69619960
13	POLR2A	chr14:69619426-69620224	GM12878	blood:	n/a	n/a
14	YY1	chr14:69619442-69620335	GM12878	blood:	n/a	chr14:69619976-69619990 chr14:69620303-69620317 chr14:69619496-69619513
15	PBX3	chr14:69619559-69620257	SK-N-SH	brain:	n/a	n/a
16	SIN3AK20	chr14:69619444-69620585	MCF-7	breast:	n/a	n/a
17	FOXP2	chr14:69619662-69620059	SK-N-MC	brain:	n/a	n/a
18	YY1	chr14:69619043-69620125	SK-N-SH_RA	brain:	n/a	chr14:69619976-69619990 chr14:69619496-69619513
19	REST	chr14:69619727-69620242	SK-N-SH	brain:	n/a	chr14:69620148-69620158 chr14:69620155-69620173 chr14:69619897-69619910 chr14:69620154-69620174 chr14:69620023-69620033
20	SIN3AK20	chr14:69619299-69620284	PANC-1	pancreas:	n/a	n/a
21	TBL1XR1	chr14:69619750-69620136	K562	blood:	n/a	n/a
22	MAX	chr14:69619460-69620137	ECC-1	luminal epithelium:	n/a	n/a
23	PAX5	chr14:69619661-69620399	GM12892	blood:	n/a	n/a
24	IRF1	chr14:69619723-69620039	K562	blood:	n/a	n/a
25	POLR2A	chr14:69619469-69620285	GM12878	blood:	n/a	n/a
26	USF1	chr14:69619675-69620158	ECC-1	luminal epithelium:	n/a	n/a
27	MEF2A	chr14:69619732-69620211	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:69619146-69620287	GM12891	blood:	n/a	n/a
29	SIN3AK20	chr14:69619733-69620053	PFSK-1	brain:	n/a	n/a
30	TAF1	chr14:69619728-69620441	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr14:69617883-69620693	H1-neurons	neurons:	n/a	chr14:69619084-69619097 chr14:69620148-69620158 chr14:69618975-69618985 chr14:69618961-69618971 chr14:69619125-69619133 chr14:69620155-69620173 chr14:69618873-69618887 chr14:69619897-69619910 chr14:69620238-69620248 chr14:69620154-69620174 chr14:69620023-69620033 chr14:69619260-69619268
32	ZBTB7A	chr14:69618061-69620626	ECC-1	luminal epithelium:	n/a	chr14:69618429-69618438 chr14:69620440-69620447
33	SP1	chr14:69619658-69620112	GM12878	blood:	n/a	chr14:69619871-69619882 chr14:69619969-69619982 chr14:69620010-69620024 chr14:69619896-69619907 chr14:69619911-69619922 chr14:69620011-69620020 chr14:69620009-69620021 chr14:69620010-69620019 chr14:69619897-69619911 chr14:69620009-69620021
34	TEAD4	chr14:69619723-69620130	K562	blood:	n/a	n/a
35	POLR2A	chr14:69619406-69620385	GM12892	blood:	n/a	n/a
36	JUND	chr14:69619666-69620121	K562	blood:	n/a	n/a
37	YY1	chr14:69619402-69620234	H1-hESC	embryonic stem cell:	n/a	chr14:69619976-69619990 chr14:69619496-69619513
38	ETS1	chr14:69619721-69620186	GM12878	blood:	n/a	chr14:69619969-69619985 chr14:69619949-69619960
39	YY1	chr14:69619369-69620418	K562	blood:	n/a	chr14:69619976-69619990 chr14:69620303-69620317 chr14:69619496-69619513
40	TEAD4	chr14:69619747-69620375	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:69618961-69620518	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr14:69618009-69620586	MCF-7	breast:	n/a	chr14:69618579-69618589 chr14:69620306-69620316
43	EP300	chr14:69619028-69620418	ECC-1	luminal epithelium:	n/a	chr14:69619977-69619993
44	POLR2A	chr14:69619465-69620531	GM18951	blood:	n/a	n/a
45	TAF1	chr14:69619653-69620044	SK-N-SH	brain:	n/a	n/a
46	FOSL2	chr14:69619725-69620117	HepG2	liver:	n/a	n/a
47	SRF	chr14:69619675-69619966	GM12878	blood:	n/a	n/a
48	TAF1	chr14:69619740-69620002	GM12891	blood:	n/a	n/a
49	HEY1	chr14:69619422-69620623	HepG2	liver:	n/a	chr14:69620152-69620167 chr14:69619974-69619989
50	ATF2	chr14:69619614-69620078	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69618202..69621032-chr14:69863576..69866501,3	MCF-7	breast:
2	chr14:69614281..69621283-chr14:69656459..69660724,14	MCF-7	breast:
3	chr14:69618346..69620839-chr14:69725644..69728530,2	K562	blood:
4	chr14:69616829..69621784-chr14:69657152..69660113,5	K562	blood:
5	chr14:69618275..69624022-chr14:69655650..69660294,14	MCF-7	breast:
6	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:

Variant related genes	Relation type
DCAF5	TF binding region
ENSG00000081177	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000258520	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000258957	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000100626	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	esv3362083	chr14:69618574-69620972	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr14:69616400-69621600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:69617400-69620200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:69617400-69620600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:69617600-69620400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:69617600-69620400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:69617600-69620600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:69617600-69620600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:69617600-69620600	Active TSS	Brain Hippocampus Middle	brain
9	chr14:69617600-69621000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69617600-69621000	Active TSS	Right Atrium	heart
11	chr14:69617600-69621200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:69617800-69620400	Active TSS	HSMM	muscle
13	chr14:69617800-69620400	Active TSS	K562	blood
14	chr14:69617800-69620600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr14:69617800-69620600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:69617800-69620600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69617800-69620600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:69617800-69620600	Active TSS	Brain Angular Gyrus	brain
19	chr14:69617800-69620600	Active TSS	Brain Cingulate Gyrus	brain
20	chr14:69617800-69620600	Active TSS	Fetal Intestine Small	intestine
21	chr14:69617800-69620600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr14:69617800-69620600	Active TSS	GM12878-XiMat	blood
23	chr14:69617800-69620800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:69617800-69620800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:69617800-69620800	Active TSS	Aorta	Aorta
26	chr14:69617800-69620800	Active TSS	Fetal Intestine Large	intestine
27	chr14:69617800-69620800	Active TSS	Ovary	ovary
28	chr14:69617800-69621000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:69617800-69621000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:69618000-69620400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:69618000-69620400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr14:69618000-69620400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:69618000-69620400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:69618000-69620400	Active TSS	HepG2	liver
35	chr14:69618000-69620600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:69618000-69620600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:69618000-69620600	Active TSS	A549	lung
38	chr14:69618000-69620800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:69618000-69620800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:69618000-69620800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:69618000-69620800	Active TSS	Gastric	stomach
42	chr14:69618000-69620800	Active TSS	Left Ventricle	heart
43	chr14:69618000-69620800	Active TSS	Lung	lung
44	chr14:69618000-69620800	Active TSS	Pancreas	Pancrea
45	chr14:69618000-69621000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69618000-69621000	Active TSS	Colon Smooth Muscle	Colon
47	chr14:69618000-69621000	Active TSS	Psoas Muscle	Psoas
48	chr14:69618200-69619800	Active TSS	Fetal Brain Male	brain
49	chr14:69618200-69620000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:69618200-69620000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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