Variant report

Variant	rs12259759
Chromosome Location	chr10:23217039-23217040
allele	A/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	CEBPB	chr10:23216673-23217438	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr10:23216465-23217436	A549	lung:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
3	MAX	chr10:23216636-23217442	HCT-116	colon:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
4	MXI1	chr10:23216788-23217198	HepG2	liver:	n/a	chr10:23217107-23217116
5	POLR2A	chr10:23216547-23217102	GM18951	blood:	n/a	n/a
6	NRF1	chr10:23216593-23217111	H1-hESC	embryonic stem cell:	n/a	chr10:23216923-23216937 chr10:23216920-23216934 chr10:23216923-23216934 chr10:23216922-23216933
7	E2F6	chr10:23216800-23217257	K562	blood:	n/a	chr10:23216880-23216894 chr10:23216924-23216933 chr10:23216926-23216936
8	MYC	chr10:23217006-23217256	H1-hESC	embryonic stem cell:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
9	MAX	chr10:23216612-23217407	ECC-1	luminal epithelium:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
10	CEBPB	chr10:23216998-23217297	K562	blood:	n/a	n/a
11	RAD21	chr10:23216824-23217202	H1-hESC	embryonic stem cell:	n/a	chr10:23216873-23216886 chr10:23216872-23216884 chr10:23216919-23216929
12	KAP1	chr10:23216109-23217127	HEK293	kidney:	n/a	n/a
13	POLR2A	chr10:23216841-23217251	MCF-7	breast:	n/a	n/a
14	MAX	chr10:23216719-23217320	MCF-7	breast:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
15	BHLHE40	chr10:23216834-23217206	K562	blood:	n/a	chr10:23216863-23216879
16	ZNF143	chr10:23216678-23217345	H1-hESC	embryonic stem cell:	n/a	n/a
17	RCOR1	chr10:23216867-23217065	HepG2	liver:	n/a	n/a
18	GTF2F1	chr10:23216746-23217118	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:23216624-23217119	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr10:23216771-23217269	A549	lung:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
21	USF1	chr10:23217032-23217215	GM12878	blood:	n/a	n/a
22	CEBPB	chr10:23216985-23217301	HepG2	liver:	n/a	n/a
23	NRF1	chr10:23216645-23217209	SK-N-SH	brain:	n/a	chr10:23216923-23216937 chr10:23216920-23216934 chr10:23216923-23216934 chr10:23216922-23216933
24	POLR2A	chr10:23216698-23217039	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr10:23216763-23217191	K562	blood:	n/a	n/a
26	MYC	chr10:23217009-23217129	HepG2	liver:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
27	MAZ	chr10:23216918-23217072	K562	blood:	n/a	n/a
28	MXI1	chr10:23216574-23217554	SK-N-SH	brain:	n/a	chr10:23217107-23217116
29	TAF1	chr10:23216436-23217134	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr10:23216503-23217372	H1-hESC	embryonic stem cell:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
31	MAX	chr10:23216817-23217227	K562	blood:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
32	MYC	chr10:23216901-23217223	K562	blood:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
33	POLR2A	chr10:23216418-23217222	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr10:23216694-23217227	A549	lung:	n/a	chr10:23216880-23216894 chr10:23216924-23216933 chr10:23216926-23216936
35	MAX	chr10:23216672-23217356	H1-hESC	embryonic stem cell:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
36	YY1	chr10:23216660-23217068	GM12892	blood:	n/a	n/a
37	MYC	chr10:23216828-23217282	MCF-7	breast:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
38	E2F6	chr10:23216369-23217382	H1-hESC	embryonic stem cell:	n/a	chr10:23216880-23216894 chr10:23216924-23216933 chr10:23216926-23216936
39	POLR2A	chr10:23216696-23217094	HCT-116	colon:	n/a	n/a
40	JUND	chr10:23216748-23217165	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr10:23216450-23217180	H1-hESC	embryonic stem cell:	n/a	chr10:23216873-23216886 chr10:23216872-23216884 chr10:23216919-23216929
42	YY1	chr10:23216721-23217046	HepG2	liver:	n/a	n/a
43	MYC	chr10:23216817-23217258	MCF-7	breast:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
44	MAX	chr10:23216457-23217408	MCF-7	breast:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
45	MXI1	chr10:23216908-23217061	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:23216760-23217145	K562	blood:	n/a	n/a
47	MAX	chr10:23216797-23217428	ECC-1	luminal epithelium:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116
48	POLR2A	chr10:23216689-23217147	HCT-116	colon:	n/a	n/a
49	YY1	chr10:23216606-23217117	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr10:23216697-23217358	K562	blood:	n/a	chr10:23217105-23217116 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217106-23217115 chr10:23217108-23217117 chr10:23217106-23217116

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:23217017-23217067	HEK293	kidney:	embryo
2	chr10:23217017-23217067	Hela-S3	cervix:	n/a
3	chr10:23217017-23217067	HRE	kidney:	n/a
4	chr10:23217017-23217067	ECC-1	luminal epithelium:	n/a
5	chr10:23217017-23217067	HCPEpiC	choroid plexus:	n/a
6	chr10:23217017-23217067	HNPCEpiC	eye:	n/a
7	chr10:23217017-23217067	GM12891	blood:	n/a
8	chr10:23217017-23217067	H1-hESC	embryonic stem cell:	embryo
9	chr10:23217017-23217067	CMK	blood:	n/a
10	chr10:23217017-23217067	HUVEC	blood vessel:	n/a
11	chr10:23217017-23217067	Hepatocyte	liver:	n/a
12	chr10:23217017-23217067	HCT-116	colon:	n/a
13	chr10:23217017-23217067	HL-60	blood:	n/a
14	chr10:23217017-23217067	ProgFib	skin:	n/a
15	chr10:23217017-23217067	NH-A	brain:	n/a
16	chr10:23217017-23217067	HepG2	liver:	n/a
17	chr10:23217017-23217067	GM19239	blood:	n/a
18	chr10:23217017-23217067	AG04449	skin:	fetal
19	chr10:23217017-23217067	AG10803	skin:	n/a
20	chr10:23217017-23217067	HCM	heart:	n/a
21	chr10:23217017-23217067	PANC-1	pancreas:	n/a
22	chr10:23217017-23217067	AG04450	lung:	fetal
23	chr10:23217017-23217067	NHDF-neo	bronchial:	n/a
24	chr10:23217017-23217067	GM06990	blood:	n/a
25	chr10:23217017-23217067	GM12878	blood:	n/a
26	chr10:23217017-23217067	IMR90	lung:	fetal
27	chr10:23217017-23217067	SK-N-MC	brain:	n/a
28	chr10:23217017-23217067	A549	lung:	n/a
29	chr10:23217017-23217067	AG09309	skin:	n/a
30	chr10:23217017-23217067	K562	blood:	n/a
31	chr10:23217017-23217067	SK-N-SH_RA	brain:	n/a
32	chr10:23217017-23217067	AoSMC	blood vessel:	n/a
33	chr10:23217017-23217067	MCF-7	breast:	n/a
34	chr10:23217017-23217067	SKMC	muscle:	n/a
35	chr10:23217017-23217067	SK-N-SH	brain:	n/a
36	chr10:23217017-23217067	HEEpiC	esophagus:	n/a
37	chr10:23217017-23217067	Caco-2	colon:	n/a
38	chr10:23217017-23217067	GM12892	blood:	n/a
39	chr10:23217017-23217067	HIPEpiC	eye:	n/a
40	chr10:23217017-23217067	NT2-D1	testis:	n/a
41	chr10:23217017-23217067	PrEC	prostate:	n/a
42	chr10:23217017-23217067	ovcar-3	ovarian:	n/a
43	chr10:23217017-23217067	HRCEpiC	kidney:	n/a
44	chr10:23217017-23217067	T-47D	breast:	n/a
45	chr10:23217017-23217067	BJ	skin:	n/a
46	chr10:23217017-23217067	HRPEpiC	eye:	n/a
47	chr10:23217017-23217067	BE2_C	brain:	n/a
48	chr10:23217017-23217067	HMEC	breast:	n/a
49	chr10:23217017-23217067	HCF	heart:	n/a
50	chr10:23217017-23217067	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:23216878..23219507-chr10:23220223..23223862,3	K562	blood:
2	chr10:23216878..23218671-chr10:23220223..23223029,3	K562	blood:

Variant related genes	Relation type
ARMC3	TF binding region
ARMC3	CpG island
ENSG00000165309	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10508657	1.00[MEX][hapmap]
rs16916143	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16922642	1.00[EUR][1000 genomes]
rs16922745	1.00[EUR][1000 genomes]
rs16922788	1.00[EUR][1000 genomes]
rs16922800	1.00[EUR][1000 genomes]
rs2364867	1.00[EUR][1000 genomes]
rs6482243	1.00[EUR][1000 genomes]
rs7072301	1.00[EUR][1000 genomes]
rs7081969	1.00[EUR][1000 genomes]
rs73600514	1.00[EUR][1000 genomes]
rs7895792	1.00[EUR][1000 genomes]
rs7899359	1.00[EUR][1000 genomes]
rs7911363	1.00[EUR][1000 genomes]
rs7915826	1.00[MEX][hapmap]
rs7918553	1.00[EUR][1000 genomes]

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	esv2764013	chr10:23087298-23239345	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23216200-23217400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr10:23216200-23217400	Active TSS	Fetal Brain Female	brain
3	chr10:23216200-23218800	Active TSS	Brain Anterior Caudate	brain
4	chr10:23216400-23217200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
5	chr10:23216400-23217200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
6	chr10:23216400-23217200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:23216400-23217200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr10:23216400-23217200	Enhancers	Placenta	Placenta
9	chr10:23216400-23217200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr10:23216400-23217200	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:23216400-23217200	Active TSS	Right Atrium	heart
12	chr10:23216400-23217200	Active TSS	Right Ventricle	heart
13	chr10:23216400-23217200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr10:23216400-23217400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr10:23216400-23217400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:23216400-23217400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:23216400-23217400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr10:23216400-23217400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr10:23216400-23217400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr10:23216400-23217400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr10:23216400-23217400	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr10:23216400-23217400	Active TSS	K562	blood
23	chr10:23216400-23217600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:23216400-23217600	Active TSS	Fetal Kidney	kidney
25	chr10:23216400-23218000	Active TSS	Fetal Lung	lung
26	chr10:23216600-23217200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:23216600-23217200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:23216600-23217200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:23216600-23217200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:23216600-23217200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:23216600-23217200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
33	chr10:23216600-23217200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:23216600-23217200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:23216600-23217200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:23216600-23217200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:23216600-23217200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr10:23216600-23217200	Flanking Active TSS	Esophagus	oesophagus
43	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr10:23216600-23217200	Flanking Active TSS	Gastric	stomach
45	chr10:23216600-23217200	Enhancers	Lung	lung
46	chr10:23216600-23217200	Flanking Active TSS	Pancreas	Pancrea
47	chr10:23216600-23217200	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr10:23216600-23217200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
49	chr10:23216600-23217200	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr10:23216600-23217200	Bivalent/Poised TSS	HSMMtube	muscle

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