Variant report

Variant	rs541619777
Chromosome Location	chr14:69951085-69951086
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	ZBTB7A	chr14:69950544-69951924	ECC-1	luminal epithelium:	n/a	chr14:69951500-69951509
2	TEAD4	chr14:69950721-69951295	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr14:69950805-69951265	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr14:69950865-69951399	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr14:69950937-69951341	MCF-7	breast:	n/a	n/a
7	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
8	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:69951004-69951294	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr14:69950372-69951792	ECC-1	luminal epithelium:	n/a	n/a
11	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
13	NR2F2	chr14:69950492-69952129	MCF-7	breast:	n/a	n/a
14	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
15	POLR2A	chr14:69950357-69951674	ECC-1	luminal epithelium:	n/a	n/a
16	SIN3A	chr14:69950441-69951712	H1-hESC	embryonic stem cell:	n/a	chr14:69951658-69951671 chr14:69951364-69951377 chr14:69950533-69950546
17	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
18	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr14:69950878-69951153	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr14:69950892-69951540	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr14:69950922-69951147	MCF-7	breast:	n/a	n/a
22	MAX	chr14:69950476-69951987	MCF-7	breast:	n/a	n/a
23	TEAD4	chr14:69950247-69951558	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr14:69950939-69951211	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr14:69950177-69951768	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
26	HDAC2	chr14:69950530-69951309	MCF-7	breast:	n/a	n/a
27	EP300	chr14:69950338-69951140	ECC-1	luminal epithelium:	n/a	chr14:69950814-69950823
28	GABPA	chr14:69950401-69951292	MCF-7	breast:	n/a	chr14:69951187-69951196 chr14:69951282-69951291
29	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
30	ELF1	chr14:69950424-69951973	MCF-7	breast:	n/a	chr14:69951225-69951237 chr14:69951656-69951668 chr14:69950813-69950825 chr14:69950812-69950821 chr14:69950815-69950824
31	TAF1	chr14:69950807-69951664	ECC-1	luminal epithelium:	n/a	n/a
32	E2F6	chr14:69950615-69951619	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
33	FOXM1	chr14:69950246-69951225	ECC-1	luminal epithelium:	n/a	n/a
34	MXI1	chr14:69950949-69951090	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:69950886-69951309	MCF-7	breast:	n/a	n/a
36	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
37	USF2	chr14:69950984-69951448	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F6	chr14:69950805-69951967	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
39	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:69950411-69951334	ECC-1	luminal epithelium:	n/a	n/a
41	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
42	CHD2	chr14:69950982-69951100	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69946123..69947705-chr14:69948349..69951147,2	MCF-7	breast:
2	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
3	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
4	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHD1	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000267909	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3357015	chr14:69950224-69952772	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
4	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
5	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
6	chr14:69950400-69951200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr14:69950400-69951600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:69950400-69951600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr14:69950400-69951600	Flanking Bivalent TSS/Enh	Ovary	ovary
12	chr14:69950400-69951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:69950400-69951800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
16	chr14:69950400-69951800	Bivalent Enhancer	Fetal Brain Male	brain
17	chr14:69950400-69952000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:69950400-69952000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr14:69950400-69952000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:69950400-69952000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:69950400-69952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:69950400-69952000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr14:69950400-69952200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:69950400-69952200	Bivalent Enhancer	Spleen	Spleen
28	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr14:69950600-69951200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr14:69950600-69951200	Flanking Active TSS	Pancreas	Pancrea
36	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
37	chr14:69950600-69951200	Flanking Active TSS	Right Ventricle	heart
38	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr14:69950600-69951200	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr14:69950600-69951400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:69950600-69951400	Bivalent/Poised TSS	Esophagus	oesophagus
43	chr14:69950600-69951400	Flanking Active TSS	Gastric	stomach
44	chr14:69950600-69951400	Active TSS	Left Ventricle	heart
45	chr14:69950600-69951400	Active TSS	Psoas Muscle	Psoas
46	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:69950600-69951600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr14:69950600-69951800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:69950600-69951800	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links