Variant report

Variant	rs2181222
Chromosome Location	chr1:47690992-47690993
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47677228-47691056	K562	blood:	n/a	n/a
2	GATA2	chr1:47690369-47691031	SH-SY5Y	brain:	n/a	chr1:47690646-47690662 chr1:47690649-47690659 chr1:47690650-47690659 chr1:47690645-47690659 chr1:47690650-47690657
3	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:47689877-47691312	K562	blood:	n/a	n/a
5	POLR2A	chr1:47690879-47691911	HUVEC	blood vessel:	n/a	n/a
6	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
7	CTBP2	chr1:47690214-47691687	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA2	chr1:47690400-47690995	HUVEC	blood vessel:	n/a	chr1:47690646-47690662 chr1:47690649-47690659 chr1:47690650-47690659 chr1:47690645-47690659 chr1:47690650-47690657
9	EGR1	chr1:47690967-47691314	K562	blood:	n/a	n/a
10	MAX	chr1:47690601-47691791	HepG2	liver:	n/a	chr1:47690915-47690925
11	POLR2A	chr1:47689763-47691090	K562	blood:	n/a	n/a
12	ZBTB7A	chr1:47690739-47691568	ECC-1	luminal epithelium:	n/a	chr1:47691058-47691069
13	POLR2A	chr1:47689981-47694069	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47690981-47691031	HEEpiC	esophagus:	n/a
2	chr1:47690981-47691031	NHBE	bronchial:	n/a
3	chr1:47690981-47691031	HepG2	liver:	n/a
4	chr1:47690981-47691031	HAEpiC	amniotic membrane:	n/a
5	chr1:47690981-47691031	SK-N-SH_RA	brain:	n/a
6	chr1:47690981-47691031	GM12891	blood:	n/a
7	chr1:47690981-47691031	HIPEpiC	eye:	n/a
8	chr1:47690981-47691031	SKMC	muscle:	n/a
9	chr1:47690981-47691031	HCF	heart:	n/a
10	chr1:47690981-47691031	GM12878	blood:	n/a
11	chr1:47690981-47691031	CMK	blood:	n/a
12	chr1:47690981-47691031	AG10803	skin:	n/a
13	chr1:47690981-47691031	BJ	skin:	n/a
14	chr1:47690981-47691031	AG09319	gingival:	n/a
15	chr1:47690981-47691031	NT2-D1	testis:	n/a
16	chr1:47690981-47691031	U87	brain:	n/a
17	chr1:47690981-47691031	AG04450	lung:	fetal
18	chr1:47690981-47691031	GM19239	blood:	n/a
19	chr1:47690981-47691031	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:47690981-47691031	Hela-S3	cervix:	n/a
21	chr1:47690981-47691031	SK-N-SH	brain:	n/a
22	chr1:47690981-47691031	K562	blood:	n/a
23	chr1:47690981-47691031	BE2_C	brain:	n/a
24	chr1:47690981-47691031	HCM	heart:	n/a
25	chr1:47690981-47691031	AoSMC	blood vessel:	n/a
26	chr1:47690981-47691031	MCF-7	breast:	n/a
27	chr1:47690981-47691031	PFSK-1	brain:	n/a
28	chr1:47690981-47691031	HMEC	breast:	n/a
29	chr1:47690981-47691031	HRPEpiC	eye:	n/a
30	chr1:47690981-47691031	MCF10A-Er-Src	breast:	n/a
31	chr1:47690981-47691031	SK-N-MC	brain:	n/a
32	chr1:47690981-47691031	LNCaP	prostate:	n/a
33	chr1:47690981-47691031	NH-A	brain:	n/a
34	chr1:47690981-47691031	IMR90	lung:	fetal
35	chr1:47690981-47691031	HCPEpiC	choroid plexus:	n/a
36	chr1:47690981-47691031	NHDF-neo	bronchial:	n/a
37	chr1:47690981-47691031	HUVEC	blood vessel:	n/a
38	chr1:47690981-47691031	GM12892	blood:	n/a
39	chr1:47690981-47691031	T-47D	breast:	n/a
40	chr1:47690981-47691031	Caco-2	colon:	n/a
41	chr1:47690981-47691031	PrEC	prostate:	n/a
42	chr1:47690981-47691031	HCT-116	colon:	n/a
43	chr1:47690981-47691031	PANC-1	pancreas:	n/a
44	chr1:47690981-47691031	RPTEC	kidney:	n/a
45	chr1:47690981-47691031	ECC-1	luminal epithelium:	n/a
46	chr1:47690981-47691031	HRCEpiC	kidney:	n/a
47	chr1:47690981-47691031	HNPCEpiC	eye:	n/a
48	chr1:47690981-47691031	ovcar-3	ovarian:	n/a
49	chr1:47690981-47691031	HL-60	blood:	n/a
50	chr1:47690981-47691031	NB4	blood:	n/a

No data

Variant related genes	Relation type
TAL1	TF binding region
ENSG00000226252	TF binding region
ENSG00000226252	CpG island
TAL1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1419051	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070929	0.89[EUR][1000 genomes]
rs2249636	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2249665	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2250380	0.84[ASN][1000 genomes]
rs2250495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798349	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2821083	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2821084	0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2821085	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs741958	0.84[ASN][1000 genomes]
rs9436225	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47689600-47691000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
2	chr1:47689800-47691200	Bivalent Enhancer	Left Ventricle	heart
3	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:47690000-47691000	Genic enhancers	K562	blood
5	chr1:47690000-47692200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:47690200-47691000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:47690200-47691000	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr1:47690200-47691000	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr1:47690200-47691000	Flanking Active TSS	HUVEC	blood vessel
11	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:47690400-47691000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr1:47690400-47691000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:47690400-47691000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr1:47690400-47691000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:47690400-47691000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr1:47690400-47691000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr1:47690400-47691000	Bivalent Enhancer	Brain Substantia Nigra	brain
19	chr1:47690400-47691200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr1:47690400-47691200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr1:47690400-47691200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:47690400-47691200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:47690400-47691400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:47690400-47691400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr1:47690400-47691400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr1:47690400-47691400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:47690400-47691400	Bivalent Enhancer	Placenta	Placenta
28	chr1:47690400-47691400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr1:47690400-47691400	Bivalent/Poised TSS	HSMM	muscle
30	chr1:47690400-47691600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr1:47690400-47691800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:47690400-47692000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:47690400-47692000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr1:47690400-47692400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr1:47690400-47693600	Enhancers	Spleen	Spleen
36	chr1:47690600-47691000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:47690600-47691000	Bivalent Enhancer	Brain Angular Gyrus	brain
41	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:47690600-47691000	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
45	chr1:47690600-47691000	Enhancers	Gastric	stomach
46	chr1:47690600-47691000	Enhancers	Right Ventricle	heart
47	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr1:47690600-47691000	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr1:47690600-47691200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:47690600-47691200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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