Variant report

Variant	rs7235260
Chromosome Location	chr18:30352363-30352364
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	TAF1	chr18:30350663-30352389	ECC-1	luminal epithelium:	n/a	n/a
2	TBP	chr18:30351895-30352378	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr18:30351777-30352364	HepG2	liver:	n/a	n/a
4	POLR2A	chr18:30351854-30352405	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3A	chr18:30351947-30352386	H1-hESC	embryonic stem cell:	n/a	chr18:30352279-30352292
6	POLR2A	chr18:30352083-30352506	HepG2	liver:	n/a	n/a
7	POLR2A	chr18:30350612-30352461	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr18:30351164-30352556	HEK293	kidney:	n/a	n/a
9	ZBTB7A	chr18:30351199-30352562	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
KLHL14	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28385394	1.00[AFR][1000 genomes]

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	esv3448189	chr18:30350054-30353852	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3362586	chr18:30350779-30353327	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3342953	chr18:30350854-30353352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30348800-30353600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr18:30349200-30352600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:30349200-30353600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:30349400-30352400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr18:30349400-30352600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:30349600-30352400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr18:30349600-30352400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr18:30349600-30352600	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr18:30349800-30352400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:30350200-30352400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:30350200-30352400	Active TSS	HepG2	liver
14	chr18:30350200-30352600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr18:30350200-30352800	Active TSS	Fetal Kidney	kidney
16	chr18:30350600-30352600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr18:30350600-30352600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:30350800-30352400	Active TSS	Aorta	Aorta
19	chr18:30351000-30352400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr18:30351000-30352400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:30351000-30352400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:30351000-30352400	Enhancers	Lung	lung
23	chr18:30351000-30352600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:30351200-30352400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:30351200-30352400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:30351200-30352400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
27	chr18:30351200-30352400	Bivalent/Poised TSS	Esophagus	oesophagus
28	chr18:30351200-30352400	Active TSS	Gastric	stomach
29	chr18:30351200-30352400	Bivalent/Poised TSS	Left Ventricle	heart
30	chr18:30351200-30352600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr18:30351200-30352600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:30351200-30352600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:30351200-30352800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:30351400-30352400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:30351400-30352400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:30351400-30352400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr18:30351400-30352600	Active TSS	Brain Substantia Nigra	brain
38	chr18:30351400-30353200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr18:30351400-30353400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr18:30351600-30352400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:30351600-30352400	Active TSS	Brain Hippocampus Middle	brain
42	chr18:30351600-30352600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:30351600-30352600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:30351600-30352600	Active TSS	Colon Smooth Muscle	Colon
45	chr18:30351600-30352600	Active TSS	Right Atrium	heart
46	chr18:30351600-30352800	Active TSS	Brain Cingulate Gyrus	brain
47	chr18:30351600-30353000	Active TSS	Brain Angular Gyrus	brain
48	chr18:30351600-30353200	Active TSS	Brain Anterior Caudate	brain
49	chr18:30351800-30352400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:30351800-30352800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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