Variant report

Variant	rs56853180
Chromosome Location	chr14:77965643-77965644
allele	A/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	RXRA	chr14:77965130-77965728	HepG2	liver:	n/a	n/a
2	RFX5	chr14:77965568-77965660	HepG2	liver:	n/a	n/a
3	ZEB1	chr14:77965413-77965685	GM12878	blood:	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	FOXA1	chr14:77965090-77965643	HepG2	liver:	n/a	n/a
7	REST	chr14:77964731-77965766	H1-neurons	neurons:	n/a	chr14:77965152-77965165
8	MAX	chr14:77964254-77965896	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
9	TEAD4	chr14:77965313-77965732	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr14:77964593-77965776	HepG2	liver:	n/a	n/a
11	MXI1	chr14:77964937-77965772	HepG2	liver:	n/a	n/a
12	MBD4	chr14:77965519-77965833	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:77964840-77966187	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr14:77964997-77965705	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:77964946-77965714	HepG2	liver:	n/a	n/a
16	HEY1	chr14:77964808-77965870	HepG2	liver:	n/a	n/a
17	SIN3A	chr14:77965363-77965679	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr14:77964613-77965948	ECC-1	luminal epithelium:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
19	TCF7L2	chr14:77964968-77965711	MCF-7	breast:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
20	MXI1	chr14:77964820-77965839	IMR90	lung:	n/a	n/a
21	POLR2A	chr14:77964922-77965714	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:77964869-77965651	H1-neurons	neurons:	n/a	n/a
23	NR2F2	chr14:77964963-77965818	MCF-7	breast:	n/a	n/a
24	TAF1	chr14:77964450-77965678	HepG2	liver:	n/a	n/a
25	MAX	chr14:77964303-77965937	H1-hESC	embryonic stem cell:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
26	E2F6	chr14:77964415-77965951	H1-hESC	embryonic stem cell:	n/a	chr14:77964513-77964523 chr14:77965434-77965446
27	HDAC2	chr14:77964842-77965901	MCF-7	breast:	n/a	chr14:77965614-77965623 chr14:77965311-77965320
28	HEY1	chr14:77965236-77965795	HepG2	liver:	n/a	n/a
29	TCF7L2	chr14:77964932-77965820	PANC-1	pancreas:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
30	EP300	chr14:77965489-77965680	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:77965545-77965702	MCF-7	breast:	n/a	n/a
32	MAX	chr14:77964646-77965909	ECC-1	luminal epithelium:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
33	ZNF263	chr14:77965522-77965758	HEK293-T-REx	kidney:	n/a	chr14:77965707-77965716
34	MAX	chr14:77964336-77965893	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
35	ZBTB7A	chr14:77965057-77965737	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr14:77964746-77965879	MCF-7	breast:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
37	MAX	chr14:77964426-77965866	H1-hESC	embryonic stem cell:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
38	TCF7L2	chr14:77964724-77965883	HEK293	kidney:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
39	ELF1	chr14:77964675-77965824	GM12878	blood:	n/a	n/a
40	RUNX3	chr14:77965567-77965792	GM12878	blood:	n/a	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
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34418677	1.00[AMR][1000 genomes]
rs8018812	1.00[AMR][1000 genomes]

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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77964200-77965800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:77964200-77965800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:77964200-77965800	Enhancers	Liver	Liver
4	chr14:77964200-77966000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:77964200-77966000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:77964200-77966000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:77964200-77966000	Bivalent/Poised TSS	HepG2	liver
8	chr14:77964200-77966600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr14:77964200-77966600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:77964400-77965800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:77964400-77965800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:77964400-77965800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:77964400-77965800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:77964400-77965800	Bivalent Enhancer	Fetal Brain Male	brain
20	chr14:77964400-77965800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr14:77964400-77965800	Flanking Active TSS	Right Ventricle	heart
22	chr14:77964400-77965800	Bivalent/Poised TSS	HSMM	muscle
23	chr14:77964400-77966000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:77964400-77966400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:77964600-77965800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:77964600-77965800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:77964600-77965800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:77964600-77965800	Flanking Active TSS	Gastric	stomach
30	chr14:77964600-77965800	Flanking Active TSS	Pancreas	Pancrea
31	chr14:77964600-77965800	Bivalent/Poised TSS	HSMMtube	muscle
32	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr14:77964600-77966000	Bivalent Enhancer	Fetal Lung	lung
34	chr14:77964600-77966200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr14:77964600-77966400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr14:77964800-77965800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr14:77964800-77965800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:77964800-77965800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:77964800-77965800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:77964800-77965800	Active TSS	Brain Anterior Caudate	brain
41	chr14:77964800-77965800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr14:77964800-77965800	Bivalent/Poised TSS	NHLF	lung
43	chr14:77964800-77966200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr14:77964800-77966200	Bivalent Enhancer	Fetal Thymus	thymus
45	chr14:77965000-77965800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:77965000-77965800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr14:77965000-77965800	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr14:77965000-77965800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:77965200-77965800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr14:77965200-77965800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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