Variant report

Variant	rs541322899
Chromosome Location	chr14:77965035-77965036
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	MAX	chr14:77964951-77965203	K562	blood:	n/a	n/a
3	MAX	chr14:77964829-77965246	GM12878	blood:	n/a	n/a
4	MYBL2	chr14:77964827-77965529	HepG2	liver:	n/a	n/a
5	MAX	chr14:77964905-77965784	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
6	E2F6	chr14:77964526-77965842	H1-hESC	embryonic stem cell:	n/a	chr14:77965434-77965446
7	TBP	chr14:77964953-77965205	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:77965000-77965150	AG04449	skin:	n/a	n/a
9	TAF1	chr14:77964894-77965636	HepG2	liver:	n/a	n/a
10	REST	chr14:77964731-77965766	H1-neurons	neurons:	n/a	chr14:77965152-77965165
11	MAX	chr14:77964254-77965896	HepG2	liver:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
12	POLR2A	chr14:77965028-77965038	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:77964994-77965221	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr14:77965000-77965150	GM12864	blood:	n/a	n/a
15	ZEB1	chr14:77964673-77965273	GM12878	blood:	n/a	n/a
16	GABPA	chr14:77964619-77965205	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:77964904-77965151	A549	lung:	n/a	n/a
18	POLR2A	chr14:77964923-77965488	HepG2	liver:	n/a	n/a
19	YY1	chr14:77964593-77965776	HepG2	liver:	n/a	n/a
20	MXI1	chr14:77964937-77965772	HepG2	liver:	n/a	n/a
21	CTCF	chr14:77965018-77965221	K562	blood:	n/a	n/a
22	POLR2A	chr14:77964840-77966187	HepG2	liver:	n/a	n/a
23	CTCF	chr14:77965010-77965179	MCF-7	breast:	n/a	n/a
24	UBTF	chr14:77964992-77965192	K562	blood:	n/a	n/a
25	CTCF	chr14:77965024-77965142	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:77965000-77965150	GM12865	blood:	n/a	n/a
27	MAX	chr14:77964896-77965319	SK-N-SH	brain:	n/a	n/a
28	ZBTB7A	chr14:77964997-77965705	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:77964874-77965461	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr14:77964946-77965714	HepG2	liver:	n/a	n/a
31	HEY1	chr14:77964808-77965870	HepG2	liver:	n/a	n/a
32	MAX	chr14:77964550-77965431	A549	lung:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
33	POLR2A	chr14:77964931-77965642	HepG2	liver:	n/a	n/a
34	MYC	chr14:77964939-77965346	MCF-7	breast:	n/a	chr14:77965311-77965320
35	MAX	chr14:77964613-77965948	ECC-1	luminal epithelium:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
36	TCF7L2	chr14:77964968-77965711	MCF-7	breast:	n/a	chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965415-77965431 chr14:77965416-77965430 chr14:77965419-77965428
37	MXI1	chr14:77964820-77965839	IMR90	lung:	n/a	n/a
38	E2F6	chr14:77964874-77965258	K562	blood:	n/a	n/a
39	MAX	chr14:77964456-77965484	A549	lung:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
40	POLR2A	chr14:77964922-77965714	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:77964869-77965651	H1-neurons	neurons:	n/a	n/a
42	CTCF	chr14:77965000-77965150	SK-N-SH_RA	brain:	n/a	n/a
43	MAX	chr14:77964805-77965334	K562	blood:	n/a	chr14:77965311-77965320
44	TBP	chr14:77964971-77965196	HepG2	liver:	n/a	n/a
45	BHLHE40	chr14:77964938-77965566	HepG2	liver:	n/a	n/a
46	NR2F2	chr14:77964963-77965818	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:77964972-77965224	SK-N-MC	brain:	n/a	n/a
48	TAF1	chr14:77964450-77965678	HepG2	liver:	n/a	n/a
49	MAX	chr14:77964303-77965937	H1-hESC	embryonic stem cell:	n/a	chr14:77965355-77965365 chr14:77965311-77965320
50	E2F6	chr14:77964415-77965951	H1-hESC	embryonic stem cell:	n/a	chr14:77964513-77964523 chr14:77965434-77965446

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: 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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77964200-77965200	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr14:77964200-77965600	Bivalent/Poised TSS	NHEK	skin
3	chr14:77964200-77965800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:77964200-77965800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:77964200-77965800	Enhancers	Liver	Liver
6	chr14:77964200-77966000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:77964200-77966000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:77964200-77966000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:77964200-77966000	Bivalent/Poised TSS	HepG2	liver
10	chr14:77964200-77966600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr14:77964200-77966600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:77964400-77965200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr14:77964400-77965200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr14:77964400-77965200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr14:77964400-77965400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr14:77964400-77965400	Flanking Active TSS	Lung	lung
17	chr14:77964400-77965600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:77964400-77965600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr14:77964400-77965800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:77964400-77965800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:77964400-77965800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:77964400-77965800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:77964400-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:77964400-77965800	Bivalent Enhancer	Fetal Brain Male	brain
29	chr14:77964400-77965800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:77964400-77965800	Flanking Active TSS	Right Ventricle	heart
31	chr14:77964400-77965800	Bivalent/Poised TSS	HSMM	muscle
32	chr14:77964400-77966000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:77964400-77966400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:77964600-77965200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr14:77964600-77965200	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr14:77964600-77965400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:77964600-77965400	Bivalent Enhancer	Fetal Heart	heart
38	chr14:77964600-77965600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr14:77964600-77965600	Active TSS	Aorta	Aorta
40	chr14:77964600-77965600	Flanking Active TSS	Spleen	Spleen
41	chr14:77964600-77965600	Bivalent/Poised TSS	A549	lung
42	chr14:77964600-77965800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:77964600-77965800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:77964600-77965800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:77964600-77965800	Flanking Active TSS	Gastric	stomach
47	chr14:77964600-77965800	Flanking Active TSS	Pancreas	Pancrea
48	chr14:77964600-77965800	Bivalent/Poised TSS	HSMMtube	muscle
49	chr14:77964600-77965800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr14:77964600-77966000	Bivalent Enhancer	Fetal Lung	lung

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