Variant report

Variant	rs831526
Chromosome Location	chr2:74153905-74153906
allele	C/T
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	TEAD4	chr2:74153595-74154580	K562	blood:	n/a	n/a
2	POLR2A	chr2:74153725-74154315	GM10847	blood:	n/a	n/a
3	SP1	chr2:74153590-74154351	A549	lung:	n/a	chr2:74153916-74153926
4	ZNF384	chr2:74153812-74154224	K562	blood:	n/a	n/a
5	MXI1	chr2:74153611-74154357	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:74153857-74154251	HepG2	liver:	n/a	n/a
7	FOXP2	chr2:74153826-74154261	PFSK-1	brain:	n/a	n/a
8	PAX5	chr2:74153630-74154346	GM12878	blood:	n/a	chr2:74153924-74153933
9	REST	chr2:74153742-74154288	SK-N-SH	brain:	n/a	chr2:74154244-74154257 chr2:74154242-74154250
10	ELF1	chr2:74153518-74154488	MCF-7	breast:	n/a	n/a
11	GABPA	chr2:74153676-74154548	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr2:74153675-74154409	ECC-1	luminal epithelium:	n/a	n/a
13	CREB1	chr2:74153589-74154328	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPD	chr2:74153708-74154345	K562	blood:	n/a	chr2:74153830-74153841
15	TAF1	chr2:74153712-74154408	SK-N-SH	brain:	n/a	n/a
16	SPI1	chr2:74153807-74154093	GM12878	blood:	n/a	n/a
17	ZNF263	chr2:74153787-74154305	HEK293-T-REx	kidney:	n/a	n/a
18	SMC3	chr2:74153515-74154255	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr2:74153194-74154429	K562	blood:	n/a	chr2:74153868-74153877
20	CREB1	chr2:74153614-74154488	HepG2	liver:	n/a	n/a
21	STAT3	chr2:74153887-74154060	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr2:74153700-74154384	K562	blood:	n/a	n/a
23	USF1	chr2:74153801-74154040	SK-N-SH_RA	brain:	n/a	n/a
24	CEBPB	chr2:74153611-74154216	Hela-S3	cervix:	n/a	chr2:74153831-74153842
25	TAF1	chr2:74153678-74154453	ECC-1	luminal epithelium:	n/a	n/a
26	TAF1	chr2:74153780-74154340	H1-hESC	embryonic stem cell:	n/a	n/a
27	EGR1	chr2:74153875-74154135	GM12878	blood:	n/a	chr2:74154004-74154013 chr2:74153989-74153998 chr2:74153924-74153933
28	SMC3	chr2:74153768-74154225	GM12878	blood:	n/a	n/a
29	NFYB	chr2:74153821-74154106	K562	blood:	n/a	n/a
30	ETS1	chr2:74153785-74154328	K562	blood:	n/a	chr2:74153921-74153934 chr2:74153922-74153933 chr2:74153919-74153933 chr2:74153868-74153877 chr2:74153997-74154013 chr2:74153989-74154000 chr2:74153924-74153933 chr2:74153989-74154006 chr2:74154004-74154013 chr2:74153989-74153998 chr2:74153921-74153932
31	MYC	chr2:74153731-74154548	MCF10A-Er-Src	breast:	n/a	n/a
32	JUN	chr2:74152917-74154545	K562	blood:	n/a	chr2:74153571-74153578 chr2:74153642-74153651 chr2:74153566-74153577 chr2:74153570-74153578
33	PML	chr2:74153656-74154279	GM12878	blood:	n/a	n/a
34	GABPA	chr2:74153593-74154469	SK-N-SH	brain:	n/a	n/a
35	ZBTB33	chr2:74153623-74154173	HepG2	liver:	n/a	chr2:74153863-74153878
36	REST	chr2:74153732-74154133	Hela-S3	cervix:	n/a	n/a
37	JUND	chr2:74153871-74154175	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr2:74153648-74154450	GM18505	blood:	n/a	n/a
39	ATF2	chr2:74153667-74154245	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr2:74153740-74154346	HepG2	liver:	n/a	n/a
41	EGR1	chr2:74153691-74154541	MCF-7	breast:	n/a	chr2:74154004-74154013 chr2:74153989-74153998 chr2:74153924-74153933
42	MYC	chr2:74153794-74154131	HepG2	liver:	n/a	n/a
43	BHLHE40	chr2:74153643-74154264	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:74153695-74154456	GM12891	blood:	n/a	n/a
45	EP300	chr2:74153193-74154286	GM12878	blood:	n/a	n/a
46	UBTF	chr2:74153840-74154270	K562	blood:	n/a	n/a
47	PML	chr2:74153464-74154599	GM12878	blood:	n/a	chr2:74153571-74153580
48	ETS1	chr2:74153694-74154256	A549	lung:	n/a	chr2:74153921-74153934 chr2:74153922-74153933 chr2:74153919-74153933 chr2:74153868-74153877 chr2:74153997-74154013 chr2:74153989-74154000 chr2:74153924-74153933 chr2:74153989-74154006 chr2:74154004-74154013 chr2:74153989-74153998 chr2:74153921-74153932
49	E2F6	chr2:74153885-74154182	K562	blood:	n/a	n/a
50	TAF1	chr2:74153732-74154395	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74153896-74153946	HRCEpiC	kidney:	n/a
2	chr2:74153884-74153934	HEEpiC	esophagus:	n/a
3	chr2:74153884-74153934	AG10803	skin:	n/a
4	chr2:74153896-74153946	BE2_C	brain:	n/a
5	chr2:74153884-74153934	AG04449	skin:	fetal
6	chr2:74153884-74153934	PANC-1	pancreas:	n/a
7	chr2:74153896-74153946	LNCaP	prostate:	n/a
8	chr2:74153884-74153934	NHDF-neo	bronchial:	n/a
9	chr2:74153884-74153934	GM12891	blood:	n/a
10	chr2:74153884-74153934	Jurkat	blood:	n/a
11	chr2:74153896-74153946	HRPEpiC	eye:	n/a
12	chr2:74153896-74153946	RPTEC	kidney:	n/a
13	chr2:74153884-74153934	K562	blood:	n/a
14	chr2:74153896-74153946	HCM	heart:	n/a
15	chr2:74153884-74153934	HRCEpiC	kidney:	n/a
16	chr2:74153884-74153934	HRE	kidney:	n/a
17	chr2:74153896-74153946	AG04450	lung:	fetal
18	chr2:74153896-74153946	SK-N-MC	brain:	n/a
19	chr2:74153896-74153946	BJ	skin:	n/a
20	chr2:74153896-74153946	HL-60	blood:	n/a
21	chr2:74153896-74153946	HepG2	liver:	n/a
22	chr2:74153884-74153934	MCF-7	breast:	n/a
23	chr2:74153884-74153934	NH-A	brain:	n/a
24	chr2:74153884-74153934	T-47D	breast:	n/a
25	chr2:74153884-74153934	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:74153884-74153934	SAEC	small airway:	n/a
27	chr2:74153896-74153946	U87	brain:	n/a
28	chr2:74153896-74153946	HIPEpiC	eye:	n/a
29	chr2:74153884-74153934	HCPEpiC	choroid plexus:	n/a
30	chr2:74153884-74153934	HAEpiC	amniotic membrane:	n/a
31	chr2:74153896-74153946	NT2-D1	testis:	n/a
32	chr2:74153896-74153946	NB4	blood:	n/a
33	chr2:74153896-74153946	ECC-1	luminal epithelium:	n/a
34	chr2:74153884-74153934	GM12892	blood:	n/a
35	chr2:74153884-74153934	ovcar-3	ovarian:	n/a
36	chr2:74153884-74153934	GM06990	blood:	n/a
37	chr2:74153884-74153934	LNCaP	prostate:	n/a
38	chr2:74153896-74153946	GM06990	blood:	n/a
39	chr2:74153896-74153946	HRE	kidney:	n/a
40	chr2:74153896-74153946	SK-N-SH	brain:	n/a
41	chr2:74153884-74153934	RPTEC	kidney:	n/a
42	chr2:74153884-74153934	AG09309	skin:	n/a
43	chr2:74153896-74153946	AG09309	skin:	n/a
44	chr2:74153896-74153946	Hela-S3	cervix:	n/a
45	chr2:74153896-74153946	AG09319	gingival:	n/a
46	chr2:74153884-74153934	HCT-116	colon:	n/a
47	chr2:74153896-74153946	CMK	blood:	n/a
48	chr2:74153884-74153934	HEK293	kidney:	embryo
49	chr2:74153896-74153946	T-47D	breast:	n/a
50	chr2:74153896-74153946	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:67313258..67313978-chr2:74153847..74154532,2	Hela-S3	cervix:
2	chr2:74153417..74154291-chr8:104426606..104427170,2	Hela-S3	cervix:
3	chr12:29533614..29534145-chr2:74153684..74154489,2	Hela-S3	cervix:
4	chr2:74153590..74155495-chr2:74346048..74348829,2	MCF-7	breast:
5	chr2:74153344..74154195-chr5:110847669..110848405,2	Hela-S3	cervix:
6	chr2:74153382..74154315-chr4:184365512..184366398,2	Hela-S3	cervix:
7	chr2:74153687..74156890-chr2:74206451..74210129,3	K562	blood:
8	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
9	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
10	chr16:2205023..2205780-chr2:74153591..74154519,2	Hela-S3	cervix:
11	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
12	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
13	chr1:28834985..28835836-chr2:74153725..74154538,2	Hela-S3	cervix:
14	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
15	chr2:74005698..74008068-chr2:74153454..74156032,2	K562	blood:
16	chr2:74054349..74056665-chr2:74153840..74155868,2	K562	blood:
17	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
18	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:

Variant related genes	Relation type
DGUOK	TF binding region
DGUOK	CpG island
ENSG00000246859	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000168564	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000164211	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000196155	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000200087	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000087502	Chromatin interaction
ENSG00000257800	Chromatin interaction

rs_ID	r²[population]
rs17009632	1.00[CEU][hapmap]
rs6731282	1.00[CEU][hapmap]
rs828894	1.00[CEU][hapmap]
rs828895	1.00[CEU][hapmap]

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74138600-74154000	Weak transcription	Esophagus	oesophagus
2	chr2:74140800-74154000	Weak transcription	Lung	lung
3	chr2:74146800-74154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:74147200-74154000	Weak transcription	Aorta	Aorta
5	chr2:74152400-74154200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr2:74153000-74154600	Active TSS	Liver	Liver
7	chr2:74153000-74155000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:74153200-74154400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr2:74153200-74154600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:74153200-74154600	Active TSS	Brain Cingulate Gyrus	brain
11	chr2:74153200-74154600	Active TSS	Brain Hippocampus Middle	brain
12	chr2:74153200-74154600	Active TSS	Duodenum Mucosa	Duodenum
13	chr2:74153200-74154600	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:74153200-74154600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr2:74153200-74154800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:74153200-74154800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:74153200-74154800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:74153200-74154800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:74153200-74154800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:74153200-74154800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:74153200-74154800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:74153200-74154800	Active TSS	Colonic Mucosa	Colon
23	chr2:74153200-74154800	Active TSS	Fetal Kidney	kidney
24	chr2:74153200-74155600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:74153400-74154000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:74153400-74154000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:74153400-74154000	Weak transcription	Psoas Muscle	Psoas
28	chr2:74153400-74154000	Weak transcription	Spleen	Spleen
29	chr2:74153400-74154400	Active TSS	Brain Anterior Caudate	brain
30	chr2:74153400-74154600	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:74153400-74154600	Active TSS	Brain Germinal Matrix	brain
32	chr2:74153400-74154600	Active TSS	Brain Substantia Nigra	brain
33	chr2:74153400-74154600	Active TSS	Fetal Heart	heart
34	chr2:74153400-74154600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:74153400-74154600	Active TSS	Fetal Lung	lung
36	chr2:74153400-74154600	Active TSS	Thymus	Thymus
37	chr2:74153400-74154600	Active TSS	NH-A	brain
38	chr2:74153400-74154800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:74153400-74154800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:74153400-74154800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:74153400-74154800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr2:74153400-74154800	Active TSS	Fetal Brain Female	brain
43	chr2:74153400-74154800	Active TSS	Fetal Intestine Small	intestine
44	chr2:74153400-74154800	Active TSS	Fetal Muscle Leg	muscle
45	chr2:74153400-74154800	Active TSS	Fetal Stomach	stomach
46	chr2:74153400-74154800	Active TSS	Right Ventricle	heart
47	chr2:74153400-74154800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:74153400-74154800	Active TSS	HSMM	muscle
49	chr2:74153400-74155000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:74153400-74155000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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