Variant report

Variant	rs536454862
Chromosome Location	chr4:79697083-79697084
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	POLR2A	chr4:79696680-79697774	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
3	MAZ	chr4:79696696-79697686	Hela-S3	cervix:	n/a	chr4:79697385-79697395
4	POLR2A	chr4:79695584-79697705	K562	blood:	n/a	n/a
5	USF2	chr4:79696379-79697277	Hela-S3	cervix:	n/a	chr4:79697101-79697112
6	USF1	chr4:79696622-79697372	SK-N-SH	brain:	n/a	n/a
7	YY1	chr4:79696671-79697207	H1-hESC	embryonic stem cell:	n/a	chr4:79697134-79697143 chr4:79697134-79697148
8	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
9	POLR2A	chr4:79696418-79697732	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr4:79696916-79697195	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:79696503-79697734	HCT-116	colon:	n/a	n/a
12	GABPA	chr4:79696665-79697369	SK-N-SH	brain:	n/a	chr4:79697150-79697159 chr4:79697148-79697162 chr4:79697148-79697159 chr4:79697145-79697159
13	MYC	chr4:79697062-79697177	MCF-7	breast:	n/a	n/a
14	USF1	chr4:79696754-79697309	A549	lung:	n/a	n/a
15	MAX	chr4:79696366-79697766	A549	lung:	n/a	chr4:79697385-79697395
16	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
17	POLR2A	chr4:79696412-79697683	ECC-1	luminal epithelium:	n/a	n/a
18	HDAC2	chr4:79696759-79697454	HepG2	liver:	n/a	n/a
19	TBP	chr4:79696121-79697135	Hela-S3	cervix:	n/a	n/a
20	MAX	chr4:79696704-79697390	MCF-7	breast:	n/a	n/a
21	TAF1	chr4:79696429-79697734	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:79696849-79697759	HUVEC	blood vessel:	n/a	n/a
23	ZBTB7A	chr4:79696902-79697178	HepG2	liver:	n/a	n/a
24	RELA	chr4:79695491-79697309	GM19099	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
25	USF1	chr4:79696678-79697289	HCT-116	colon:	n/a	n/a
26	MAX	chr4:79696786-79697535	SK-N-SH	brain:	n/a	chr4:79697385-79697395
27	E2F6	chr4:79696582-79697251	H1-hESC	embryonic stem cell:	n/a	chr4:79696890-79696907 chr4:79697134-79697143 chr4:79697149-79697158
28	TEAD4	chr4:79696442-79697153	K562	blood:	n/a	n/a
29	STAT1	chr4:79696735-79697556	GM12878	blood:	n/a	n/a
30	MAX	chr4:79696456-79697931	HepG2	liver:	n/a	chr4:79697385-79697395
31	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
32	MAX	chr4:79696389-79697807	HCT-116	colon:	n/a	chr4:79697385-79697395
33	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
34	TBP	chr4:79696443-79698343	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZBTB7A	chr4:79696655-79697405	K562	blood:	n/a	n/a
36	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
37	ZMIZ1	chr4:79696451-79697703	K562	blood:	n/a	n/a
38	YY1	chr4:79696861-79697417	ECC-1	luminal epithelium:	n/a	chr4:79697134-79697143 chr4:79697134-79697148
39	CREB1	chr4:79696466-79697748	HepG2	liver:	n/a	n/a
40	MYC	chr4:79696324-79697719	K562	blood:	n/a	chr4:79697385-79697395
41	CTCF	chr4:79697080-79697230	AG04449	skin:	n/a	n/a
42	CEBPD	chr4:79696855-79697699	HepG2	liver:	n/a	n/a
43	CREB1	chr4:79696958-79697235	A549	lung:	n/a	n/a
44	POLR2A	chr4:79696569-79697723	HCT-116	colon:	n/a	n/a
45	POLR2A	chr4:79696676-79697771	GM10847	blood:	n/a	n/a
46	USF1	chr4:79696965-79697210	HepG2	liver:	n/a	n/a
47	CREB1	chr4:79696550-79697705	GM12878	blood:	n/a	n/a
48	NANOG	chr4:79696895-79697210	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr4:79696686-79697418	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:79696630-79697434	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
5	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
6	chr12:6309195..6310003-chr4:79696831..79697536,2	Hela-S3	cervix:
7	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
8	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
9	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
10	chr4:79696772..79697553-chr6:43737917..43738589,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000112715	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000138772	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000251019	Chromatin interaction
ENSG00000010278	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3368249	chr4:79696578-79699076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:79696000-79697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:79696000-79698000	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
8	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:79696200-79697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:79696200-79698000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:79696200-79698200	Active TSS	Brain Anterior Caudate	brain
13	chr4:79696200-79698200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr4:79696200-79698200	Active TSS	Colonic Mucosa	Colon
15	chr4:79696200-79698200	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:79696200-79698400	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:79696200-79698400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:79696200-79698600	Active TSS	Ovary	ovary
19	chr4:79696200-79698800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:79696200-79698800	Active TSS	Aorta	Aorta
23	chr4:79696200-79698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:79696200-79698800	Active TSS	A549	lung
25	chr4:79696200-79699000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:79696200-79699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr4:79696200-79699200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr4:79696200-79699200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:79696200-79699200	Active TSS	Fetal Kidney	kidney
30	chr4:79696200-79699200	Active TSS	Fetal Muscle Trunk	muscle
31	chr4:79696200-79699200	Active TSS	Fetal Stomach	stomach
32	chr4:79696200-79699200	Active TSS	Psoas Muscle	Psoas
33	chr4:79696200-79699600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:79696200-79699600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:79696200-79699600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:79696200-79699800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:79696200-79699800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:79696200-79699800	Active TSS	Thymus	Thymus
39	chr4:79696200-79699800	Active TSS	NHDF-Ad	bronchial
40	chr4:79696200-79700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:79696200-79700800	Active TSS	Rectal Smooth Muscle	rectum
42	chr4:79696400-79697200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr4:79696400-79698200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:79696400-79698200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:79696400-79698200	Active TSS	Brain Substantia Nigra	brain
46	chr4:79696400-79698400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:79696400-79698400	Active TSS	Colon Smooth Muscle	Colon
48	chr4:79696400-79698400	Active TSS	Fetal Lung	lung
49	chr4:79696400-79698600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:79696400-79698600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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