Variant report

Variant	rs72730319
Chromosome Location	chr4:150998937-150998938
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	MXI1	chr4:150998899-151001409	IMR90	lung:	n/a	n/a
2	SIN3A	chr4:150998911-150999667	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr4:150998921-151002713	IMR90	lung:	n/a	n/a
4	MAZ	chr4:150998696-151000849	IMR90	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
5	POLR2A	chr4:150998925-151000206	U87	brain:	n/a	n/a
6	POLR2A	chr4:150998923-151000091	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr4:150998885-151000619	SK-N-SH	brain:	n/a	n/a
8	REST	chr4:150998686-151001103	H1-neurons	neurons:	n/a	chr4:150999721-150999734 chr4:151000038-151000056 chr4:151000742-151000755
9	POLR2A	chr4:150998907-151000689	Hela-S3	cervix:	n/a	n/a
10	MAX	chr4:150998846-150999025	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr4:150998554-151000713	HEK293-T-REx	kidney:	n/a	chr4:150999749-150999758

Variant related genes	Relation type
DCLK2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3325727	chr4:150998027-151001275	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3379698	chr4:150998652-151001000	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150994000-150999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:150998400-150999000	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr4:150998400-150999000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr4:150998400-150999200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:150998400-150999400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:150998400-151000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:150998400-151001800	Active TSS	Fetal Kidney	kidney
8	chr4:150998400-151002400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr4:150998600-150999000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:150998600-150999000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:150998600-150999000	Flanking Active TSS	Fetal Brain Female	brain
12	chr4:150998600-150999000	Flanking Active TSS	A549	lung
13	chr4:150998600-150999200	Flanking Active TSS	Fetal Brain Male	brain
14	chr4:150998600-150999200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr4:150998600-151000400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr4:150998600-151002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:150998800-150999000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr4:150998800-150999000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:150998800-150999000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr4:150998800-150999000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:150998800-150999000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr4:150998800-150999000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:150998800-150999000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr4:150998800-150999000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:150998800-150999000	Enhancers	Adipose Nuclei	Adipose
26	chr4:150998800-150999000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr4:150998800-150999000	Flanking Active TSS	Left Ventricle	heart
28	chr4:150998800-150999000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr4:150998800-150999000	Enhancers	Hela-S3	cervix
30	chr4:150998800-150999000	Flanking Active TSS	HSMM	muscle
31	chr4:150998800-150999000	Flanking Active TSS	HSMMtube	muscle
32	chr4:150998800-150999200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:150998800-150999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:150998800-150999200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr4:150998800-150999200	Flanking Active TSS	Fetal Heart	heart
36	chr4:150998800-150999200	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr4:150998800-150999200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr4:150998800-150999200	Flanking Active TSS	HUVEC	blood vessel
39	chr4:150998800-150999400	Enhancers	Primary B cells from peripheral blood	blood
40	chr4:150998800-150999400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:150998800-150999400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr4:150998800-150999400	Flanking Active TSS	NH-A	brain
45	chr4:150998800-150999600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr4:150998800-150999800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:150998800-151000000	Active TSS	Fetal Muscle Trunk	muscle
48	chr4:150998800-151000200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:150998800-151000200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr4:150998800-151000400	Active TSS	Duodenum Smooth Muscle	Duodenum

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