Variant report

Variant	rs575256597
Chromosome Location	chr18:11856035-11856036
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	chr18:11849544-11856636	Hela-S3	cervix:	n/a	n/a
2	HNF4A	chr18:11855952-11856258	HepG2	liver:	n/a	chr18:11856126-11856134 chr18:11856119-11856134 chr18:11856121-11856133 chr18:11856127-11856142 chr18:11856128-11856136 chr18:11856127-11856141 chr18:11856125-11856143 chr18:11856121-11856133
3	POLR2A	chr18:11855986-11856331	HepG2	liver:	n/a	n/a
4	SPI1	chr18:11855988-11856127	K562	blood:	n/a	chr18:11856082-11856089
5	HNF4A	chr18:11855893-11856297	HepG2	liver:	n/a	chr18:11856126-11856134 chr18:11856119-11856134 chr18:11856121-11856133 chr18:11856127-11856142 chr18:11856128-11856136 chr18:11856127-11856141 chr18:11856125-11856143 chr18:11856121-11856133
6	POLR2A	chr18:11848810-11859649	IMR90	lung:	n/a	n/a
7	POLR2A	chr18:11854134-11856764	K562	blood:	n/a	n/a
8	POLR2A	chr18:11855995-11856598	HepG2	liver:	n/a	n/a
9	POLR2A	chr18:11849742-11860299	MCF10A-Er-Src	breast:	n/a	n/a
10	GABPA	chr18:11855982-11856173	HepG2	liver:	n/a	n/a
11	GABPA	chr18:11855997-11856266	A549	lung:	n/a	n/a
12	MYC	chr18:11856030-11856147	NB4	blood:	n/a	n/a
13	POLR2A	chr18:11856008-11856306	HepG2	liver:	n/a	n/a
14	MAX	chr18:11855997-11856085	NB4	blood:	n/a	n/a
15	POLR2A	chr18:11855957-11856665	A549	lung:	n/a	n/a
16	ARID3A	chr18:11856004-11856621	HepG2	liver:	n/a	n/a
17	HEY1	chr18:11855930-11856389	HepG2	liver:	n/a	n/a
18	HNF4G	chr18:11855977-11856276	HepG2	liver:	n/a	chr18:11856126-11856134 chr18:11856125-11856140 chr18:11856121-11856133 chr18:11856127-11856142 chr18:11856128-11856136 chr18:11856127-11856141 chr18:11856125-11856143 chr18:11856121-11856133
19	SPI1	chr18:11855971-11856341	HL-60	blood:	n/a	chr18:11856082-11856089
20	POLR2A	chr18:11849706-11860430	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:
2	chr18:11853727..11856399-chr18:11905762..11908760,2	K562	blood:

Variant related genes	Relation type
GNAL	TF binding region
ENSG00000267165	TF binding region
ENSG00000267165	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv3317298	chr18:11855697-11856801	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3317299	chr18:11855697-11856801	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852200-11856200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:11852200-11856200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:11852400-11856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:11852400-11857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:11852400-11860000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
7	chr18:11852600-11857000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:11852800-11856200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:11853400-11856200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:11853400-11856200	Weak transcription	Colonic Mucosa	Colon
11	chr18:11853400-11856200	Weak transcription	Pancreas	Pancrea
12	chr18:11853400-11856400	Weak transcription	NHDF-Ad	bronchial
13	chr18:11853400-11857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:11853400-11859200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:11853600-11856800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:11853600-11857000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:11853600-11857000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:11853600-11857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:11853600-11857000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:11853600-11857000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:11853600-11857400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:11853600-11857400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:11853600-11857400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:11853600-11857400	Weak transcription	Fetal Muscle Leg	muscle
25	chr18:11853600-11857600	Weak transcription	Fetal Thymus	thymus
26	chr18:11853600-11859200	Weak transcription	Right Ventricle	heart
27	chr18:11853600-11859600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:11853600-11883800	Weak transcription	Ovary	ovary
29	chr18:11853800-11856200	Weak transcription	Small Intestine	intestine
30	chr18:11853800-11856200	Weak transcription	HMEC	breast
31	chr18:11853800-11856200	Weak transcription	HUVEC	blood vessel
32	chr18:11853800-11856200	Weak transcription	NHLF	lung
33	chr18:11853800-11856400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:11853800-11856400	Weak transcription	HSMMtube	muscle
35	chr18:11853800-11857000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:11853800-11857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:11853800-11857000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr18:11853800-11857000	Weak transcription	Adipose Nuclei	Adipose
39	chr18:11853800-11857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:11853800-11857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:11853800-11857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:11853800-11857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:11853800-11857200	Weak transcription	Brain Anterior Caudate	brain
44	chr18:11853800-11857200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:11853800-11857200	Weak transcription	Fetal Kidney	kidney
46	chr18:11853800-11857200	Weak transcription	K562	blood
47	chr18:11853800-11857400	Weak transcription	Placenta	Placenta
48	chr18:11853800-11857400	Weak transcription	Right Atrium	heart
49	chr18:11853800-11861000	Weak transcription	Fetal Lung	lung
50	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain

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