Variant report

Variant	rs74095031
Chromosome Location	chr12:57026093-57026094
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	GATA3	chr12:57026018-57026502	T-47D	breast:	n/a	n/a
2	POLR2A	chr12:57026019-57026424	GM12878	blood:	n/a	n/a
3	STAT1	chr12:57025712-57026393	GM12878	blood:	n/a	chr12:57025786-57025797 chr12:57025791-57025803
4	MAZ	chr12:57026003-57026813	IMR90	lung:	n/a	chr12:57026377-57026386
5	POLR2A	chr12:57025989-57026390	ECC-1	luminal epithelium:	n/a	n/a
6	RELA	chr12:57025661-57026570	GM18951	blood:	n/a	n/a
7	STAT5A	chr12:57025719-57026666	GM12878	blood:	n/a	chr12:57025786-57025797 chr12:57025791-57025803
8	EP300	chr12:57026020-57026606	T-47D	breast:	n/a	n/a
9	EGR1	chr12:57025980-57026576	ECC-1	luminal epithelium:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
10	RUNX3	chr12:57025552-57026701	GM12878	blood:	n/a	n/a
11	NFIC	chr12:57025531-57026401	GM12878	blood:	n/a	n/a
12	EBF1	chr12:57025643-57027099	GM12878	blood:	n/a	chr12:57026836-57026849 chr12:57026838-57026847 chr12:57026836-57026847
13	ZNF384	chr12:57025746-57026146	GM12878	blood:	n/a	n/a
14	ZEB1	chr12:57026056-57026450	GM12878	blood:	n/a	n/a
15	NR2F2	chr12:57025653-57026445	K562	blood:	n/a	n/a
16	EGR1	chr12:57025869-57026692	HCT-116	colon:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
17	IKZF1	chr12:57025412-57026314	GM12878	blood:	n/a	n/a
18	EGR1	chr12:57026038-57026581	ECC-1	luminal epithelium:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
19	MTA3	chr12:57025282-57026862	GM12878	blood:	n/a	n/a
20	BHLHE40	chr12:57025788-57026262	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:57026033-57026439	K562	blood:	n/a	n/a
22	POLR2A	chr12:57026054-57026472	HCT-116	colon:	n/a	n/a
23	POLR2A	chr12:57025342-57026677	GM12878	blood:	n/a	n/a
24	MAZ	chr12:57025630-57026639	K562	blood:	n/a	chr12:57026377-57026386
25	POLR2A	chr12:57025828-57026500	SK-N-MC	brain:	n/a	n/a
26	ELF1	chr12:57026002-57026576	MCF-7	breast:	n/a	n/a
27	EGR1	chr12:57026005-57026587	MCF-7	breast:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
28	EGR1	chr12:57025892-57026654	HCT-116	colon:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
29	EP300	chr12:57026079-57026578	T-47D	breast:	n/a	n/a
30	JUND	chr12:57025709-57026387	K562	blood:	n/a	n/a
31	SP1	chr12:57025988-57026443	GM12878	blood:	n/a	chr12:57026258-57026268 chr12:57026270-57026280 chr12:57026224-57026235 chr12:57026263-57026272 chr12:57026262-57026273 chr12:57026345-57026359 chr12:57026344-57026356 chr12:57026101-57026111 chr12:57026258-57026268
32	STAT3	chr12:57025852-57026473	GM12878	blood:	n/a	n/a
33	EGR1	chr12:57026023-57026678	MCF-7	breast:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
34	ZBTB7A	chr12:57026004-57026712	ECC-1	luminal epithelium:	n/a	n/a
35	SP1	chr12:57026040-57026498	H1-hESC	embryonic stem cell:	n/a	chr12:57026258-57026268 chr12:57026270-57026280 chr12:57026224-57026235 chr12:57026263-57026272 chr12:57026262-57026273 chr12:57026345-57026359 chr12:57026344-57026356 chr12:57026101-57026111 chr12:57026258-57026268
36	SPI1	chr12:57025304-57026138	GM12878	blood:	n/a	chr12:57025793-57025800
37	POLR2A	chr12:57026067-57026361	Raji	blood:	n/a	n/a
38	TCF12	chr12:57025990-57026657	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr12:57026009-57026406	MCF-7	breast:	n/a	n/a
40	SIN3A	chr12:57026036-57026680	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:57026044-57026474	K562	blood:	n/a	n/a
42	TBP	chr12:57025593-57026215	GM12878	blood:	n/a	n/a
43	RCOR1	chr12:57025756-57026360	GM12878	blood:	n/a	n/a
44	TEAD4	chr12:57025624-57026610	K562	blood:	n/a	n/a
45	IRF1	chr12:57026089-57026401	K562	blood:	n/a	chr12:57026255-57026269
46	WRNIP1	chr12:57025602-57026120	GM12878	blood:	n/a	n/a
47	NRF1	chr12:57025823-57026272	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr12:57025434-57026625	GM12878	blood:	n/a	n/a
49	RUNX3	chr12:57025605-57026149	GM12878	blood:	n/a	n/a
50	ARID3A	chr12:57025981-57026112	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56497194..56499592-chr12:57025012..57027087,2	MCF-7	breast:
2	chr12:57010005..57012841-chr12:57025383..57028519,3	K562	blood:
3	chr12:57003031..57005740-chr12:57025787..57027791,2	MCF-7	breast:
4	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
5	chr12:57024284..57028695-chr12:57112563..57115410,4	K562	blood:
6	chr12:56997043..57002825-chr12:57025405..57031317,7	MCF-7	breast:
7	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
8	chr12:57025967..57028369-chr12:57109076..57111615,2	K562	blood:
9	chr12:57023932..57026516-chr12:57081163..57083127,2	MCF-7	breast:
10	chr12:57010005..57012841-chr12:57024813..57028519,3	K562	blood:

Variant related genes	Relation type
BAZ2A	TF binding region
ENSG00000170515	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000076108	Chromatin interaction

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58051650	1.00[AMR][1000 genomes]
rs58783710	1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs74091604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091642	1.00[AMR][1000 genomes]
rs74091895	1.00[AMR][1000 genomes]
rs74093907	1.00[AMR][1000 genomes]
rs74095032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57024000-57028000	Enhancers	Stomach Mucosa	stomach
2	chr12:57024200-57027600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:57024200-57027800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:57024400-57026200	Weak transcription	Aorta	Aorta
5	chr12:57024400-57026200	Enhancers	Pancreas	Pancrea
6	chr12:57024400-57026400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:57024400-57026800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:57024400-57026800	Enhancers	Fetal Muscle Trunk	muscle
9	chr12:57024400-57027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:57024400-57027800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:57024400-57027800	Enhancers	Placenta	Placenta
12	chr12:57024400-57028000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:57024400-57028000	Enhancers	Small Intestine	intestine
14	chr12:57024400-57028000	Enhancers	Spleen	Spleen
15	chr12:57024600-57026200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:57024600-57026200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:57024600-57026200	Enhancers	Liver	Liver
18	chr12:57024600-57026400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:57024600-57026400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57024600-57026400	Enhancers	Colon Smooth Muscle	Colon
21	chr12:57024600-57026400	Enhancers	NHDF-Ad	bronchial
22	chr12:57024600-57026800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:57024600-57027800	Enhancers	Primary T cells from cord blood	blood
24	chr12:57024600-57028000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:57024600-57028000	Enhancers	Fetal Lung	lung
26	chr12:57024600-57028000	Enhancers	Lung	lung
27	chr12:57024800-57026200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:57024800-57026200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:57024800-57026200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:57024800-57026400	Enhancers	Adipose Nuclei	Adipose
31	chr12:57024800-57026400	Enhancers	HepG2	liver
32	chr12:57024800-57026600	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:57024800-57027800	Enhancers	Brain Substantia Nigra	brain
34	chr12:57024800-57027800	Enhancers	Dnd41	blood
35	chr12:57024800-57028000	Enhancers	Brain Angular Gyrus	brain
36	chr12:57025200-57028000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:57025200-57028400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:57025400-57027200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:57025400-57027600	Flanking Active TSS	Thymus	Thymus
40	chr12:57025400-57027600	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:57025400-57027800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:57025400-57028000	Enhancers	Fetal Heart	heart
43	chr12:57025400-57028000	Enhancers	HUVEC	blood vessel
44	chr12:57025400-57028400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:57025400-57030600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:57025400-57031400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:57025600-57026200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:57025600-57026200	Enhancers	Fetal Brain Female	brain
49	chr12:57025600-57026200	Enhancers	Osteobl	bone
50	chr12:57025600-57026400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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