Variant report

Variant	rs548083852
Chromosome Location	chr14:77965362-77965363
allele	C/G
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	POLR2A	chr14:77964902-77965405	ECC-1	luminal epithelium:	n/a	n/a
2	RXRA	chr14:77965130-77965728	HepG2	liver:	n/a	n/a
3	MYBL2	chr14:77964827-77965529	HepG2	liver:	n/a	n/a
4	MAX	chr14:77964905-77965784	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
5	E2F6	chr14:77964526-77965842	H1-hESC	embryonic stem cell:	n/a	chr14:77965434-77965446
6	TAF1	chr14:77964894-77965636	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:77965090-77965643	HepG2	liver:	n/a	n/a
8	CEBPD	chr14:77965258-77965545	HepG2	liver:	n/a	n/a
9	REST	chr14:77964731-77965766	H1-neurons	neurons:	n/a	chr14:77965152-77965165
10	MAX	chr14:77964254-77965896	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
11	TEAD4	chr14:77965313-77965732	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:77964923-77965488	HepG2	liver:	n/a	n/a
13	YY1	chr14:77964593-77965776	HepG2	liver:	n/a	n/a
14	MXI1	chr14:77964937-77965772	HepG2	liver:	n/a	n/a
15	RXRA	chr14:77965231-77965572	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:77964840-77966187	HepG2	liver:	n/a	n/a
17	EP300	chr14:77965272-77965602	HepG2	liver:	n/a	chr14:77965482-77965491
18	ZBTB7A	chr14:77964997-77965705	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr14:77964874-77965461	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr14:77964946-77965714	HepG2	liver:	n/a	n/a
21	HEY1	chr14:77964808-77965870	HepG2	liver:	n/a	n/a
22	MAX	chr14:77964550-77965431	A549	lung:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
23	POLR2A	chr14:77964931-77965642	HepG2	liver:	n/a	n/a
24	MYC	chr14:77965062-77965362	HepG2	liver:	n/a	chr14:77965311-77965320
25	MAX	chr14:77964613-77965948	ECC-1	luminal epithelium:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
26	TCF7L2	chr14:77964968-77965711	MCF-7	breast:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
27	MXI1	chr14:77964820-77965839	IMR90	lung:	n/a	n/a
28	MAX	chr14:77964456-77965484	A549	lung:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
29	TCF7L2	chr14:77965293-77965602	HepG2	liver:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
30	POLR2A	chr14:77964922-77965714	HepG2	liver:	n/a	n/a
31	BACH1	chr14:77965341-77965392	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:77964869-77965651	H1-neurons	neurons:	n/a	n/a
33	BHLHE40	chr14:77964938-77965566	HepG2	liver:	n/a	n/a
34	NR2F2	chr14:77964963-77965818	MCF-7	breast:	n/a	n/a
35	TAF1	chr14:77964450-77965678	HepG2	liver:	n/a	n/a
36	MAX	chr14:77964303-77965937	H1-hESC	embryonic stem cell:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
37	E2F6	chr14:77964415-77965951	H1-hESC	embryonic stem cell:	n/a	chr14:77964513-77964523 chr14:77965434-77965446
38	HDAC2	chr14:77964842-77965901	MCF-7	breast:	n/a	chr14:77965614-77965623 chr14:77965311-77965320
39	RCOR1	chr14:77965003-77965395	HepG2	liver:	n/a	n/a
40	HEY1	chr14:77965236-77965795	HepG2	liver:	n/a	n/a
41	E2F6	chr14:77964730-77965409	A549	lung:	n/a	n/a
42	MAZ	chr14:77965279-77965613	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
43	TCF7L2	chr14:77964932-77965820	PANC-1	pancreas:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
44	POLR2A	chr14:77965057-77965372	MCF-7	breast:	n/a	n/a
45	MAX	chr14:77964646-77965909	ECC-1	luminal epithelium:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
46	MAX	chr14:77964336-77965893	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
47	HDAC2	chr14:77964455-77965573	HepG2	liver:	n/a	chr14:77965311-77965320
48	ZBTB7A	chr14:77965057-77965737	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr14:77964746-77965879	MCF-7	breast:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
50	MAX	chr14:77964426-77965866	H1-hESC	embryonic stem cell:	n/a	chr14:77965355-77965365 chr14:77965311-77965320

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:77965313-77965363	ProgFib	skin:	n/a
2	chr14:77965313-77965363	H1-hESC	embryonic stem cell:	embryo
3	chr14:77965313-77965363	HAEpiC	amniotic membrane:	n/a
4	chr14:77965313-77965363	GM12892	blood:	n/a
5	chr14:77965313-77965363	AG04450	lung:	fetal
6	chr14:77965313-77965363	Caco-2	colon:	n/a
7	chr14:77965313-77965363	PFSK-1	brain:	n/a
8	chr14:77965313-77965363	GM12878	blood:	n/a
9	chr14:77965313-77965363	SK-N-SH	brain:	n/a
10	chr14:77965313-77965363	MCF10A-Er-Src	breast:	n/a
11	chr14:77965313-77965363	HCF	heart:	n/a
12	chr14:77965313-77965363	HEK293	kidney:	embryo
13	chr14:77965313-77965363	GM12891	blood:	n/a
14	chr14:77965313-77965363	U87	brain:	n/a
15	chr14:77965313-77965363	ECC-1	luminal epithelium:	n/a
16	chr14:77965313-77965363	CMK	blood:	n/a
17	chr14:77965313-77965363	IMR90	lung:	fetal
18	chr14:77965313-77965363	BJ	skin:	n/a
19	chr14:77965313-77965363	T-47D	breast:	n/a
20	chr14:77965313-77965363	LNCaP	prostate:	n/a
21	chr14:77965313-77965363	Jurkat	blood:	n/a
22	chr14:77965313-77965363	HCM	heart:	n/a
23	chr14:77965313-77965363	AG09309	skin:	n/a
24	chr14:77965313-77965363	HEEpiC	esophagus:	n/a
25	chr14:77965313-77965363	HCT-116	colon:	n/a
26	chr14:77965313-77965363	MCF-7	breast:	n/a
27	chr14:77965313-77965363	BE2_C	brain:	n/a
28	chr14:77965313-77965363	NH-A	brain:	n/a
29	chr14:77965313-77965363	NHBE	bronchial:	n/a
30	chr14:77965313-77965363	Hela-S3	cervix:	n/a
31	chr14:77965313-77965363	HRCEpiC	kidney:	n/a
32	chr14:77965313-77965363	A549	lung:	n/a
33	chr14:77965313-77965363	Hepatocyte	liver:	n/a
34	chr14:77965313-77965363	NB4	blood:	n/a
35	chr14:77965313-77965363	PrEC	prostate:	n/a
36	chr14:77965313-77965363	NT2-D1	testis:	n/a
37	chr14:77965313-77965363	SK-N-SH_RA	brain:	n/a
38	chr14:77965313-77965363	HRPEpiC	eye:	n/a
39	chr14:77965313-77965363	AG09319	gingival:	n/a
40	chr14:77965313-77965363	RPTEC	kidney:	n/a
41	chr14:77965313-77965363	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:77965313-77965363	HCPEpiC	choroid plexus:	n/a
43	chr14:77965313-77965363	AG10803	skin:	n/a
44	chr14:77965313-77965363	HUVEC	blood vessel:	n/a
45	chr14:77965313-77965363	SK-N-MC	brain:	n/a
46	chr14:77965313-77965363	SKMC	muscle:	n/a
47	chr14:77965313-77965363	HRE	kidney:	n/a
48	chr14:77965313-77965363	GM06990	blood:	n/a
49	chr14:77965313-77965363	HIPEpiC	eye:	n/a
50	chr14:77965313-77965363	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77924491..77927029-chr14:77963244..77966693,3	MCF-7	breast:
2	chr14:77929404..77931486-chr14:77963841..77966397,2	MCF-7	breast:

Variant related genes	Relation type
ISM2	TF binding region
ISM2	CpG island
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3341035	chr14:77964024-77966572	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77964200-77965600	Bivalent/Poised TSS	NHEK	skin
2	chr14:77964200-77965800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:77964200-77965800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:77964200-77965800	Enhancers	Liver	Liver
5	chr14:77964200-77966000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:77964200-77966000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:77964200-77966000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:77964200-77966000	Bivalent/Poised TSS	HepG2	liver
9	chr14:77964200-77966600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr14:77964200-77966600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:77964400-77965400	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr14:77964400-77965400	Flanking Active TSS	Lung	lung
13	chr14:77964400-77965600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:77964400-77965600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr14:77964400-77965800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:77964400-77965800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77964400-77965800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:77964400-77965800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:77964400-77965800	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:77964400-77965800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr14:77964400-77965800	Flanking Active TSS	Right Ventricle	heart
27	chr14:77964400-77965800	Bivalent/Poised TSS	HSMM	muscle
28	chr14:77964400-77966000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:77964400-77966400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:77964600-77965400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:77964600-77965400	Bivalent Enhancer	Fetal Heart	heart
32	chr14:77964600-77965600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr14:77964600-77965600	Active TSS	Aorta	Aorta
34	chr14:77964600-77965600	Flanking Active TSS	Spleen	Spleen
35	chr14:77964600-77965600	Bivalent/Poised TSS	A549	lung
36	chr14:77964600-77965800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:77964600-77965800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:77964600-77965800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:77964600-77965800	Flanking Active TSS	Gastric	stomach
41	chr14:77964600-77965800	Flanking Active TSS	Pancreas	Pancrea
42	chr14:77964600-77965800	Bivalent/Poised TSS	HSMMtube	muscle
43	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr14:77964600-77966000	Bivalent Enhancer	Fetal Lung	lung
45	chr14:77964600-77966200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:77964600-77966400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
47	chr14:77964800-77965400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:77964800-77965400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr14:77964800-77965400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:77964800-77965400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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