Variant report

Variant	rs564050752
Chromosome Location	chr18:30352489-30352490
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	chr18:30352426-30353447	HepG2	liver:	n/a	n/a
2	TCF12	chr18:30352479-30353487	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr18:30352083-30352506	HepG2	liver:	n/a	n/a
4	TCF12	chr18:30352475-30353245	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr18:30351164-30352556	HEK293	kidney:	n/a	n/a
6	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: 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	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:52 , 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	chr18:30349400-30352600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr18:30349600-30352600	Bivalent/Poised TSS	Psoas Muscle	Psoas
8	chr18:30350200-30352600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr18:30350200-30352800	Active TSS	Fetal Kidney	kidney
10	chr18:30350600-30352600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr18:30350600-30352600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:30351000-30352600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:30351200-30352600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr18:30351200-30352600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:30351200-30352600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:30351200-30352800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:30351400-30352600	Active TSS	Brain Substantia Nigra	brain
18	chr18:30351400-30353200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr18:30351400-30353400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr18:30351600-30352600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:30351600-30352600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:30351600-30352600	Active TSS	Colon Smooth Muscle	Colon
23	chr18:30351600-30352600	Active TSS	Right Atrium	heart
24	chr18:30351600-30352800	Active TSS	Brain Cingulate Gyrus	brain
25	chr18:30351600-30353000	Active TSS	Brain Angular Gyrus	brain
26	chr18:30351600-30353200	Active TSS	Brain Anterior Caudate	brain
27	chr18:30351800-30352800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr18:30352000-30352800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
29	chr18:30352000-30353200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr18:30352200-30352600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr18:30352200-30352600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr18:30352200-30352600	Flanking Active TSS	Fetal Brain Female	brain
33	chr18:30352200-30352800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr18:30352200-30352800	Bivalent/Poised TSS	Fetal Heart	heart
35	chr18:30352200-30353000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr18:30352200-30353200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr18:30352400-30352600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr18:30352400-30352600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:30352400-30352600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr18:30352400-30352600	Enhancers	Fetal Brain Male	brain
41	chr18:30352400-30352800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:30352400-30352800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:30352400-30352800	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr18:30352400-30352800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr18:30352400-30352800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr18:30352400-30353000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr18:30352400-30353000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:30352400-30353000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr18:30352400-30353000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr18:30352400-30353000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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