Variant report

Variant	rs552129248
Chromosome Location	chr1:212003050-212003051
allele	C/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	E2F6	chr1:212002709-212003143	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:212002681-212003054	K562	blood:	n/a	n/a
3	MAX	chr1:212002688-212003068	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr1:212002968-212003440	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA2	chr1:212002662-212003228	SH-SY5Y	brain:	n/a	n/a
6	TBP	chr1:212002768-212003101	K562	blood:	n/a	n/a
7	CTCF	chr1:212003040-212003190	HEEpiC	esophagus:	n/a	n/a
8	RAD21	chr1:212002254-212004585	SK-N-SH	brain:	n/a	chr1:212003385-212003394
9	TEAD4	chr1:212002488-212003093	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:212002725-212003479	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr1:212002822-212003086	A549	lung:	n/a	n/a
12	WRNIP1	chr1:212002693-212003120	GM12878	blood:	n/a	n/a
13	CEBPB	chr1:212002704-212003108	K562	blood:	n/a	n/a
14	CEBPB	chr1:212002643-212003091	A549	lung:	n/a	n/a
15	MAZ	chr1:212002157-212004773	IMR90	lung:	n/a	chr1:212003407-212003416
16	CEBPB	chr1:212002694-212003457	A549	lung:	n/a	n/a
17	ZNF263	chr1:212002491-212004292	HEK293-T-REx	kidney:	n/a	chr1:212002836-212002845
18	CEBPB	chr1:212002700-212003078	HepG2	liver:	n/a	n/a
19	MYC	chr1:212002614-212003258	A549	lung:	n/a	n/a
20	MAX	chr1:212002781-212003064	H1-hESC	embryonic stem cell:	n/a	n/a
21	SMC3	chr1:212002335-212004768	SK-N-SH	brain:	n/a	n/a
22	MXI1	chr1:212002151-212004682	SK-N-SH	brain:	n/a	n/a
23	MAX	chr1:212002702-212003131	K562	blood:	n/a	n/a
24	CEBPB	chr1:212002711-212003077	IMR90	lung:	n/a	n/a
25	MYC	chr1:212002754-212004303	K562	blood:	n/a	chr1:212003407-212003416
26	CEBPB	chr1:212002694-212003061	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:212002726-212003192	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:212002692-212003221	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr1:212002743-212003162	HepG2	liver:	n/a	n/a
30	MYBL2	chr1:212002589-212003069	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:212002650-212003100	K562	blood:	n/a	n/a
32	POLR2A	chr1:212002726-212004394	HepG2	liver:	n/a	n/a
33	MAX	chr1:212002731-212003073	K562	blood:	n/a	n/a
34	HDAC2	chr1:212002686-212003058	HepG2	liver:	n/a	chr1:212002854-212002862
35	CEBPB	chr1:212002692-212003085	HepG2	liver:	n/a	n/a
36	HCFC1	chr1:212002780-212003116	K562	blood:	n/a	n/a
37	BACH1	chr1:212002956-212003106	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr1:212002643-212003105	HepG2	liver:	n/a	n/a
39	MTA3	chr1:212002625-212003806	GM12878	blood:	n/a	n/a
40	NR2F2	chr1:212002500-212003506	K562	blood:	n/a	n/a
41	REST	chr1:212002187-212003260	A549	lung:	n/a	chr1:212002784-212002804 chr1:212002784-212002804
42	MXI1	chr1:212002998-212003198	GM12878	blood:	n/a	n/a
43	ZNF384	chr1:212003035-212003413	GM12878	blood:	n/a	n/a
44	CTCF	chr1:212002920-212003070	GM06990	blood:	n/a	n/a
45	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
46	POLR2A	chr1:212002899-212003130	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:212002559-212003165	A549	lung:	n/a	n/a
48	HEY1	chr1:212002783-212003084	HepG2	liver:	n/a	n/a
49	CUX1	chr1:212002567-212003349	K562	blood:	n/a	n/a
50	TBP	chr1:212002759-212003110	HepG2	liver:	n/a	n/a

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

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	chr1:212000800-212003200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:212000800-212003400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:212000800-212004400	Active TSS	Brain Hippocampus Middle	brain
6	chr1:212001200-212004600	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:212001200-212004800	Active TSS	Brain Angular Gyrus	brain
8	chr1:212001600-212004400	Active TSS	Brain Substantia Nigra	brain
9	chr1:212001600-212004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:212002000-212004600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:212002000-212004800	Active TSS	Right Atrium	heart
12	chr1:212002200-212003200	Flanking Active TSS	Fetal Brain Male	brain
13	chr1:212002200-212003400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:212002200-212003400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr1:212002400-212003200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr1:212002400-212003200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:212002400-212003200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:212002400-212003200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr1:212002400-212003200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr1:212002400-212003200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:212002400-212003200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:212002400-212003200	Flanking Active TSS	HMEC	breast
26	chr1:212002400-212003200	Flanking Active TSS	K562	blood
27	chr1:212002400-212003400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:212002400-212003400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:212002400-212003400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:212002400-212003400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr1:212002400-212003400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:212002400-212003400	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr1:212002400-212003400	Flanking Active TSS	Dnd41	blood
34	chr1:212002400-212003400	Flanking Active TSS	Hela-S3	cervix
35	chr1:212002400-212003400	Flanking Active TSS	HUVEC	blood vessel
36	chr1:212002400-212003800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:212002400-212004200	Active TSS	Thymus	Thymus
38	chr1:212002400-212004400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:212002400-212004400	Active TSS	Fetal Kidney	kidney
40	chr1:212002400-212004600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:212002400-212004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:212002400-212004600	Active TSS	Aorta	Aorta
43	chr1:212002400-212004600	Active TSS	Right Ventricle	heart
44	chr1:212002400-212004800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:212002400-212004800	Active TSS	HSMM	muscle
46	chr1:212002600-212003200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:212002600-212003200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:212002600-212003200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:212002600-212003200	Flanking Active TSS	Fetal Heart	heart
50	chr1:212002600-212003200	Flanking Active TSS	Fetal Stomach	stomach

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