Variant report

Variant	rs11831054
Chromosome Location	chr12:57024114-57024115
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	ELF1	chr12:57023879-57024419	GM12878	blood:	n/a	n/a
2	YY1	chr12:57023387-57024413	ECC-1	luminal epithelium:	n/a	chr12:57023973-57023987 chr12:57023672-57023686 chr12:57024081-57024100 chr12:57023677-57023686 chr12:57024076-57024098 chr12:57024086-57024098 chr12:57024087-57024095 chr12:57023677-57023688 chr12:57024080-57024100
3	EGR1	chr12:57024004-57024337	GM12878	blood:	n/a	chr12:57024121-57024135 chr12:57024120-57024133 chr12:57024122-57024132
4	PML	chr12:57024027-57024294	GM12878	blood:	n/a	n/a
5	REST	chr12:57024099-57024320	PANC-1	pancreas:	n/a	chr12:57024271-57024284 chr12:57024233-57024246
6	RFX5	chr12:57024058-57024264	GM12878	blood:	n/a	n/a
7	EP300	chr12:57024030-57024398	GM12878	blood:	n/a	chr12:57024116-57024132
8	POLR2A	chr12:57022530-57024371	H1-neurons	neurons:	n/a	n/a
9	MXI1	chr12:57023970-57024376	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:57023748-57024349	SK-N-SH	brain:	n/a	n/a
11	CREB1	chr12:57023847-57024441	HepG2	liver:	n/a	n/a
12	SP1	chr12:57023788-57024623	HCT-116	colon:	n/a	chr12:57024125-57024134 chr12:57023855-57023869 chr12:57024045-57024054 chr12:57024041-57024055 chr12:57024121-57024135 chr12:57023869-57023883 chr12:57024044-57024056
13	POLR2A	chr12:57022654-57024740	GM12878	blood:	n/a	n/a
14	BACH1	chr12:57023660-57024362	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr12:57023946-57024399	ECC-1	luminal epithelium:	n/a	n/a
16	BATF	chr12:57024017-57024342	GM12878	blood:	n/a	n/a
17	CHD1	chr12:57023802-57024266	H1-hESC	embryonic stem cell:	n/a	chr12:57024099-57024109
18	RCOR1	chr12:57024042-57024365	HepG2	liver:	n/a	n/a
19	FOXA1	chr12:57024014-57024296	T-47D	breast:	n/a	n/a
20	GTF2F1	chr12:57024049-57024368	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr12:57024042-57024392	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELK1	chr12:57024022-57024388	GM12878	blood:	n/a	n/a
23	MAZ	chr12:57022819-57024385	K562	blood:	n/a	chr12:57022983-57022993
24	USF1	chr12:57024055-57024348	SK-N-SH	brain:	n/a	n/a
25	TBL1XR1	chr12:57024057-57024306	K562	blood:	n/a	n/a
26	MAX	chr12:57024002-57024360	GM12878	blood:	n/a	n/a
27	EP300	chr12:57023960-57024496	A549	lung:	n/a	chr12:57024116-57024132
28	GABPA	chr12:57024032-57024363	K562	blood:	n/a	n/a
29	HCFC1	chr12:57023979-57024383	K562	blood:	n/a	n/a
30	GTF2F1	chr12:57024065-57024328	Hela-S3	cervix:	n/a	n/a
31	RUNX3	chr12:57022553-57024469	GM12878	blood:	n/a	chr12:57023889-57023906
32	TEAD4	chr12:57023970-57024369	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr12:57023920-57025001	K562	blood:	n/a	n/a
34	TAF1	chr12:57023997-57024289	SK-N-SH	brain:	n/a	n/a
35	STAT5A	chr12:57024007-57024381	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:57023373-57024319	GM18951	blood:	n/a	n/a
37	SP1	chr12:57023873-57024485	H1-hESC	embryonic stem cell:	n/a	chr12:57024125-57024134 chr12:57024045-57024054 chr12:57024041-57024055 chr12:57024121-57024135 chr12:57024044-57024056
38	REST	chr12:57024015-57024389	A549	lung:	n/a	chr12:57024271-57024284 chr12:57024233-57024246
39	MAX	chr12:57024034-57024330	HepG2	liver:	n/a	n/a
40	TBP	chr12:57024044-57024330	K562	blood:	n/a	n/a
41	MAX	chr12:57024080-57024344	H1-hESC	embryonic stem cell:	n/a	n/a
42	HEY1	chr12:57023947-57024202	K562	blood:	n/a	chr12:57023974-57023989
43	POLR2A	chr12:57024076-57024315	Gliobla	brain:	n/a	n/a
44	MAX	chr12:57023792-57024440	K562	blood:	n/a	n/a
45	POLR2A	chr12:57023790-57024273	HUVEC	blood vessel:	n/a	n/a
46	PBX3	chr12:57023941-57024415	A549	lung:	n/a	n/a
47	POU2F2	chr12:57024052-57024484	GM12878	blood:	n/a	n/a
48	CREB1	chr12:57023869-57024530	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:57024030-57024364	GM12878	blood:	n/a	n/a
50	MAX	chr12:57023735-57024589	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
2	chr12:56996744..56998793-chr12:57023200..57025186,2	MCF-7	breast:
3	chr12:56861539..56863714-chr12:57023540..57025612,3	MCF-7	breast:
4	chr12:57005351..57008593-chr12:57022462..57024744,3	MCF-7	breast:
5	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
6	chr12:57022708..57024363-chr12:57079075..57081851,2	K562	blood:
7	chr12:56995376..56997871-chr12:57023394..57025015,2	K562	blood:
8	chr12:57022393..57025472-chr12:57080099..57082971,5	MCF-7	breast:
9	chr12:57022927..57025378-chr12:57037788..57040266,3	K562	blood:
10	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
11	chr12:57022390..57024526-chr12:57480119..57483489,4	MCF-7	breast:
12	chr12:57006171..57009899-chr12:57021383..57024124,3	K562	blood:
13	chr12:57023932..57026516-chr12:57081163..57083127,2	MCF-7	breast:

Variant related genes	Relation type
BAZ2A	TF binding region
ENSG00000166881	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10876912	0.84[EUR][1000 genomes]
rs11171909	0.84[EUR][1000 genomes]
rs11171910	0.84[EUR][1000 genomes]
rs11829496	0.82[EUR][1000 genomes]
rs11838315	0.82[EUR][1000 genomes]
rs12312913	0.84[EUR][1000 genomes]
rs12314491	0.84[EUR][1000 genomes]
rs12321649	0.84[EUR][1000 genomes]
rs1527140	0.84[EUR][1000 genomes]
rs17118865	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118901	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118921	0.82[EUR][1000 genomes]
rs17444925	0.91[EUR][1000 genomes]
rs17541679	0.91[EUR][1000 genomes]
rs1800638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4262757	0.82[EUR][1000 genomes]
rs55962252	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57406430	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59711560	0.84[EUR][1000 genomes]
rs60574031	0.82[EUR][1000 genomes]
rs7136370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307573	0.82[EUR][1000 genomes]
rs7307578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095026	1.00[EUR][1000 genomes]
rs7954160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956952	0.91[EUR][1000 genomes]
rs7958515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974103	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974600	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941210	0.84[EUR][1000 genomes]
rs9738534	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57022000-57024200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:57022000-57024200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:57022000-57024200	Active TSS	HSMMtube	muscle
4	chr12:57022000-57024200	Active TSS	NHDF-Ad	bronchial
5	chr12:57022000-57024600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:57022200-57024200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:57022200-57024200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:57022200-57024200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:57022200-57024200	Active TSS	Colonic Mucosa	Colon
10	chr12:57022200-57024200	Active TSS	Fetal Muscle Trunk	muscle
11	chr12:57022200-57024200	Active TSS	Left Ventricle	heart
12	chr12:57022200-57024200	Active TSS	Right Ventricle	heart
13	chr12:57022200-57024400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:57022200-57024400	Active TSS	Ovary	ovary
15	chr12:57022400-57024200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57022400-57024200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:57022400-57024200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:57022400-57024200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:57022400-57024200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:57022400-57024200	Active TSS	Gastric	stomach
21	chr12:57022400-57024200	Active TSS	Lung	lung
22	chr12:57022400-57024200	Active TSS	Pancreas	Pancrea
23	chr12:57022400-57024200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr12:57022400-57024200	Active TSS	GM12878-XiMat	blood
25	chr12:57022400-57024400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:57022400-57024400	Active TSS	Aorta	Aorta
27	chr12:57022400-57024600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:57022600-57024200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr12:57022600-57024200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:57022600-57024200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:57022600-57024200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:57022600-57024200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:57022600-57024200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:57022600-57024200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:57022600-57024200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:57022600-57024200	Active TSS	Primary B cells from peripheral blood	blood
37	chr12:57022600-57024200	Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:57022600-57024200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:57022600-57024200	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:57022600-57024200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:57022600-57024200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:57022600-57024200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:57022600-57024200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:57022600-57024200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:57022600-57024200	Active TSS	Brain Angular Gyrus	brain
46	chr12:57022600-57024200	Active TSS	Brain Anterior Caudate	brain
47	chr12:57022600-57024200	Active TSS	Brain Cingulate Gyrus	brain
48	chr12:57022600-57024200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:57022600-57024200	Active TSS	Brain Substantia Nigra	brain
50	chr12:57022600-57024200	Active TSS	Colon Smooth Muscle	Colon

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