Variant report

Variant	rs530176678
Chromosome Location	chr18:28680415-28680416
allele	G/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	chr18:28679636-28682676	K562	blood:	n/a	n/a
2	BHLHE40	chr18:28679783-28680484	K562	blood:	n/a	n/a
3	POLR2A	chr18:28679933-28682875	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr18:28680222-28680516	K562	blood:	n/a	n/a
5	POLR2A	chr18:28680220-28682702	K562	blood:	n/a	n/a
6	POLR2A	chr18:28680128-28680486	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr18:28679911-28682852	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:28680300-28683139	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr18:28680002-28683936	K562	blood:	n/a	n/a
10	REST	chr18:28679865-28682873	H1-neurons	neurons:	n/a	chr18:28682133-28682146
11	KAP1	chr18:28679534-28680579	HEK293	kidney:	n/a	n/a
12	POLR2A	chr18:28680252-28682692	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:
2	chr18:28663717..28665312-chr18:28679601..28681471,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3384119	chr18:28679654-28682652	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:28649200-28680800	Weak transcription	Gastric	stomach
3	chr18:28678800-28680600	Enhancers	Brain Substantia Nigra	brain
4	chr18:28678800-28682400	Active TSS	Duodenum Mucosa	Duodenum
5	chr18:28679200-28682800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:28679600-28680600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:28679800-28680600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:28679800-28680600	Flanking Active TSS	HMEC	breast
9	chr18:28679800-28680600	Flanking Active TSS	NHEK	skin
10	chr18:28679800-28680800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr18:28679800-28680800	Bivalent/Poised TSS	Fetal Brain Male	brain
12	chr18:28679800-28681000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr18:28679800-28681200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr18:28679800-28682400	Active TSS	Esophagus	oesophagus
15	chr18:28679800-28682800	Active TSS	Rectal Smooth Muscle	rectum
16	chr18:28680000-28680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:28680000-28680600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr18:28680000-28680600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr18:28680000-28680600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr18:28680000-28680800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
21	chr18:28680000-28680800	Active TSS	Brain Hippocampus Middle	brain
22	chr18:28680000-28682600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:28680000-28682600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr18:28680000-28682800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr18:28680000-28682800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:28680200-28680800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:28680200-28680800	Weak transcription	Lung	lung
28	chr18:28680200-28681000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr18:28680200-28681200	Active TSS	Right Atrium	heart
30	chr18:28680200-28682000	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr18:28680200-28682400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:28680200-28682400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr18:28680200-28682600	Active TSS	Colon Smooth Muscle	Colon
34	chr18:28680200-28682600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr18:28680200-28682600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr18:28680200-28682800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr18:28680200-28682800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr18:28680200-28682800	Active TSS	Colonic Mucosa	Colon
39	chr18:28680200-28683000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr18:28680400-28680600	Active TSS	Primary hematopoietic stem cells	blood
41	chr18:28680400-28680600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:28680400-28680600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:28680400-28680600	Enhancers	Liver	Liver
44	chr18:28680400-28680600	Flanking Active TSS	Fetal Heart	heart
45	chr18:28680400-28680600	Weak transcription	Left Ventricle	heart
46	chr18:28680400-28680600	Active TSS	HepG2	liver
47	chr18:28680400-28680600	Active TSS	K562	blood
48	chr18:28680400-28680800	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr18:28680400-28680800	Active TSS	Fetal Intestine Small	intestine
50	chr18:28680400-28681200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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