Variant report

Variant	rs545926529
Chromosome Location	chr1:212003215-212003216
allele	-/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	CHD1	chr1:212002968-212003440	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA2	chr1:212002662-212003228	SH-SY5Y	brain:	n/a	n/a
3	RAD21	chr1:212002254-212004585	SK-N-SH	brain:	n/a	chr1:212003385-212003394
4	POLR2A	chr1:212002725-212003479	H1-neurons	neurons:	n/a	n/a
5	RUNX3	chr1:212003161-212003802	GM12878	blood:	n/a	chr1:212003463-212003480
6	MAZ	chr1:212002157-212004773	IMR90	lung:	n/a	chr1:212003407-212003416
7	CEBPB	chr1:212002694-212003457	A549	lung:	n/a	n/a
8	ZNF263	chr1:212002491-212004292	HEK293-T-REx	kidney:	n/a	chr1:212002836-212002845
9	RUNX3	chr1:212003058-212003611	GM12878	blood:	n/a	chr1:212003463-212003480
10	MYC	chr1:212002614-212003258	A549	lung:	n/a	n/a
11	SPI1	chr1:212003215-212003368	GM12878	blood:	n/a	chr1:212003297-212003304 chr1:212003264-212003271 chr1:212003293-212003306
12	SMC3	chr1:212002335-212004768	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr1:212002151-212004682	SK-N-SH	brain:	n/a	n/a
14	MYC	chr1:212002754-212004303	K562	blood:	n/a	chr1:212003407-212003416
15	SPI1	chr1:212003070-212003551	HL-60	blood:	n/a	chr1:212003297-212003304 chr1:212003264-212003271 chr1:212003293-212003306
16	POLR2A	chr1:212002692-212003221	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr1:212002726-212004394	HepG2	liver:	n/a	n/a
18	MAZ	chr1:212003165-212004710	GM12878	blood:	n/a	chr1:212003407-212003416
19	MTA3	chr1:212002625-212003806	GM12878	blood:	n/a	n/a
20	MYC	chr1:212003205-212004261	NB4	blood:	n/a	chr1:212003407-212003416
21	NR2F2	chr1:212002500-212003506	K562	blood:	n/a	n/a
22	REST	chr1:212002187-212003260	A549	lung:	n/a	chr1:212002784-212002804 chr1:212002784-212002804
23	ZNF384	chr1:212003035-212003413	GM12878	blood:	n/a	n/a
24	REST	chr1:212002635-212004770	H1-neurons	neurons:	n/a	chr1:212002784-212002804 chr1:212002784-212002804 chr1:212003437-212003450 chr1:212004281-212004301 chr1:212004156-212004169 chr1:212004276-212004289
25	CUX1	chr1:212002567-212003349	K562	blood:	n/a	n/a
26	TCF12	chr1:212003135-212004596	A549	lung:	n/a	n/a
27	UBTF	chr1:212002578-212004415	K562	blood:	n/a	n/a
28	UBTF	chr1:212002619-212004424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTL-2	chr1:212003188-212003260	ENSG00000229258.1

Variant related genes	Relation type
ENSG00000229258	TF binding region
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3325021	chr1:212002754-212005502	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211999400-212004400	Active TSS	Fetal Intestine Small	intestine
2	chr1:212000200-212004600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:212000800-212003400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:212000800-212004400	Active TSS	Brain Hippocampus Middle	brain
5	chr1:212001200-212004600	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:212001200-212004800	Active TSS	Brain Angular Gyrus	brain
7	chr1:212001600-212004400	Active TSS	Brain Substantia Nigra	brain
8	chr1:212001600-212004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:212002000-212004600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:212002000-212004800	Active TSS	Right Atrium	heart
11	chr1:212002200-212003400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:212002200-212003400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:212002400-212003400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:212002400-212003400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:212002400-212003400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:212002400-212003400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:212002400-212003400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr1:212002400-212003400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr1:212002400-212003400	Flanking Active TSS	Dnd41	blood
20	chr1:212002400-212003400	Flanking Active TSS	Hela-S3	cervix
21	chr1:212002400-212003400	Flanking Active TSS	HUVEC	blood vessel
22	chr1:212002400-212003800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:212002400-212004200	Active TSS	Thymus	Thymus
24	chr1:212002400-212004400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:212002400-212004400	Active TSS	Fetal Kidney	kidney
26	chr1:212002400-212004600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:212002400-212004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:212002400-212004600	Active TSS	Aorta	Aorta
29	chr1:212002400-212004600	Active TSS	Right Ventricle	heart
30	chr1:212002400-212004800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:212002400-212004800	Active TSS	HSMM	muscle
32	chr1:212002600-212003400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:212002600-212003400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:212002600-212003400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:212002600-212003600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:212002600-212003600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:212002600-212004400	Active TSS	Liver	Liver
38	chr1:212002600-212004400	Active TSS	Fetal Intestine Large	intestine
39	chr1:212002600-212004400	Active TSS	A549	lung
40	chr1:212002600-212004600	Active TSS	Ovary	ovary
41	chr1:212002600-212004600	Active TSS	Pancreas	Pancrea
42	chr1:212002600-212004600	Active TSS	Psoas Muscle	Psoas
43	chr1:212002600-212004600	Active TSS	NHLF	lung
44	chr1:212002600-212004800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:212002600-212004800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:212002600-212004800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:212002600-212004800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:212002600-212004800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:212002600-212004800	Active TSS	Brain Anterior Caudate	brain
50	chr1:212002600-212004800	Active TSS	Colon Smooth Muscle	Colon

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