Variant report

Variant	rs58026456
Chromosome Location	chr1:47697400-47697401
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	POLR2A	chr1:47697016-47697559	SK-N-MC	brain:	n/a	n/a
2	PML	chr1:47696744-47698521	K562	blood:	n/a	n/a
3	MAFK	chr1:47697057-47697578	K562	blood:	n/a	n/a
4	ZMIZ1	chr1:47696433-47698351	K562	blood:	n/a	n/a
5	MAZ	chr1:47696025-47698451	K562	blood:	n/a	chr1:47697793-47697803 chr1:47697635-47697645 chr1:47696587-47696597
6	TBL1XR1	chr1:47696042-47699626	K562	blood:	n/a	n/a
7	BACH1	chr1:47697362-47697814	K562	blood:	n/a	n/a
8	USF1	chr1:47697015-47697458	SK-N-SH	brain:	n/a	n/a
9	BACH1	chr1:47696054-47698375	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr1:47696143-47698399	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:47697045-47698251	K562	blood:	n/a	chr1:47697460-47697475
12	POLR2A	chr1:47696994-47697761	HUVEC	blood vessel:	n/a	n/a
13	NR2F2	chr1:47696055-47699387	K562	blood:	n/a	n/a
14	JUN	chr1:47694131-47700215	K562	blood:	n/a	chr1:47697692-47697701
15	E2F6	chr1:47697295-47697738	K562	blood:	n/a	chr1:47697644-47697654 chr1:47697647-47697657
16	POLR2A	chr1:47696465-47698369	K562	blood:	n/a	n/a
17	TAL1	chr1:47696633-47698446	K562	blood:	n/a	chr1:47698026-47698044
18	HDAC2	chr1:47696887-47697769	K562	blood:	n/a	chr1:47697610-47697624 chr1:47697550-47697564
19	YY1	chr1:47696447-47698333	K562	blood:	n/a	chr1:47697661-47697670 chr1:47697638-47697649 chr1:47697646-47697660 chr1:47696692-47696703 chr1:47698080-47698090 chr1:47697653-47697667 chr1:47697650-47697661 chr1:47697659-47697670
20	POLR2A	chr1:47696832-47698430	K562	blood:	n/a	n/a
21	POLR2A	chr1:47696992-47697601	GM12878	blood:	n/a	n/a
22	GABPA	chr1:47696991-47698266	K562	blood:	n/a	n/a
23	PML	chr1:47696663-47698379	K562	blood:	n/a	n/a
24	MAX	chr1:47696434-47698286	K562	blood:	n/a	chr1:47697793-47697803 chr1:47697635-47697645 chr1:47696587-47696597
25	TRIM28	chr1:47696914-47698452	K562	blood:	n/a	n/a
26	POLR2A	chr1:47696089-47698429	K562	blood:	n/a	n/a
27	CUX1	chr1:47697114-47698435	K562	blood:	n/a	n/a
28	ELF1	chr1:47697342-47697887	K562	blood:	n/a	chr1:47697656-47697668 chr1:47697763-47697774
29	EP300	chr1:47696449-47698580	K562	blood:	n/a	chr1:47696694-47696703 chr1:47697551-47697565
30	JUN	chr1:47697119-47698292	K562	blood:	n/a	chr1:47697692-47697701
31	EP300	chr1:47697083-47697442	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:47693272-47698475	K562	blood:	n/a	n/a
33	CEBPB	chr1:47697311-47697784	A549	lung:	n/a	chr1:47697593-47697606 chr1:47697595-47697604 chr1:47697595-47697604 chr1:47697595-47697604
34	TEAD4	chr1:47696902-47698782	K562	blood:	n/a	n/a
35	SIN3A	chr1:47697138-47697497	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:47695211-47698382	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr1:47695954-47698389	K562	blood:	n/a	n/a
38	CEBPB	chr1:47697360-47697797	ECC-1	luminal epithelium:	n/a	chr1:47697593-47697606 chr1:47697595-47697604 chr1:47697595-47697604 chr1:47697595-47697604
39	BHLHE40	chr1:47697345-47697550	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:47696006-47698386	K562	blood:	n/a	n/a
41	POLR2A	chr1:47693945-47698523	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr1:47694104-47698334	K562	blood:	n/a	n/a
43	TCF12	chr1:47696961-47697623	H1-hESC	embryonic stem cell:	n/a	n/a
44	GATA1	chr1:47691744-47699667	K562	blood:	n/a	chr1:47698033-47698046 chr1:47698035-47698045 chr1:47698037-47698044 chr1:47698026-47698043 chr1:47698035-47698044 chr1:47698037-47698047
45	MYC	chr1:47696520-47698451	K562	blood:	n/a	chr1:47697793-47697803 chr1:47697635-47697645 chr1:47696587-47696597
46	ZNF384	chr1:47697019-47697512	K562	blood:	n/a	n/a
47	POLR2A	chr1:47694301-47698516	K562	blood:	n/a	n/a
48	TAF7	chr1:47697376-47697594	K562	blood:	n/a	n/a
49	CCNT2	chr1:47696493-47698508	K562	blood:	n/a	chr1:47698450-47698459 chr1:47698026-47698046
50	POLR2A	chr1:47696544-47698361	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47696558..47698524-chr1:47778724..47781604,2	K562	blood:
2	chr1:47695487..47699315-chr1:47745491..47748993,3	K562	blood:
3	chr1:47069954..47072526-chr1:47696601..47699407,3	K562	blood:
4	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
5	chr1:47695872..47699054-chr1:47778639..47781604,5	K562	blood:
6	chr1:47696333..47699229-chr1:47798340..47801363,4	K562	blood:

Variant related genes	Relation type
TAL1	TF binding region
ENSG00000079277	Chromatin interaction
ENSG00000162368	Chromatin interaction
ENSG00000123473	Chromatin interaction

rs_ID	r²[population]
rs12095281	1.00[AMR][1000 genomes]
rs74074030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:47693600-47697600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr1:47694200-47697600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:47694400-47698600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:47694600-47698200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47695000-47697400	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr1:47695400-47697400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:47695600-47697400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr1:47695600-47698200	Active TSS	HUVEC	blood vessel
10	chr1:47696200-47697600	Bivalent Enhancer	Fetal Thymus	thymus
11	chr1:47696200-47697800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
12	chr1:47696200-47698400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr1:47696200-47698800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:47696400-47697400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:47696400-47697400	Bivalent Enhancer	Small Intestine	intestine
16	chr1:47696400-47697600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:47696400-47697800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr1:47696400-47697800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr1:47696400-47697800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr1:47696400-47697800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr1:47696400-47698200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:47696600-47697600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:47696600-47697600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr1:47696600-47697600	Flanking Active TSS	Pancreas	Pancrea
25	chr1:47696600-47697600	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr1:47696600-47697800	Flanking Bivalent TSS/Enh	Placenta	Placenta
27	chr1:47696600-47697800	Enhancers	Gastric	stomach
28	chr1:47696600-47698000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:47696600-47698200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr1:47696600-47698400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:47696800-47697400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr1:47696800-47697600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:47696800-47697800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
34	chr1:47696800-47697800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr1:47697000-47697400	Bivalent/Poised TSS	Fetal Lung	lung
36	chr1:47697000-47697400	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
42	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Liver	Liver
43	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
44	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
45	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
47	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr1:47697000-47697600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr1:47697000-47697600	Flanking Active TSS	Spleen	Spleen
50	chr1:47697000-47697800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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