Variant report

Variant	rs73335300
Chromosome Location	chr12:57024361-57024362
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	EP300	chr12:57024030-57024398	GM12878	blood:	n/a	chr12:57024116-57024132
4	POLR2A	chr12:57022530-57024371	H1-neurons	neurons:	n/a	n/a
5	MXI1	chr12:57023970-57024376	HepG2	liver:	n/a	n/a
6	CREB1	chr12:57023847-57024441	HepG2	liver:	n/a	n/a
7	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
8	POLR2A	chr12:57022654-57024740	GM12878	blood:	n/a	n/a
9	BACH1	chr12:57023660-57024362	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr12:57023946-57024399	ECC-1	luminal epithelium:	n/a	n/a
11	RCOR1	chr12:57024042-57024365	HepG2	liver:	n/a	n/a
12	GTF2F1	chr12:57024049-57024368	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr12:57024042-57024392	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELK1	chr12:57024022-57024388	GM12878	blood:	n/a	n/a
15	MAZ	chr12:57022819-57024385	K562	blood:	n/a	chr12:57022983-57022993
16	EP300	chr12:57023960-57024496	A549	lung:	n/a	chr12:57024116-57024132
17	GABPA	chr12:57024032-57024363	K562	blood:	n/a	n/a
18	HCFC1	chr12:57023979-57024383	K562	blood:	n/a	n/a
19	RUNX3	chr12:57022553-57024469	GM12878	blood:	n/a	chr12:57023889-57023906
20	TEAD4	chr12:57023970-57024369	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUN	chr12:57023920-57025001	K562	blood:	n/a	n/a
22	STAT5A	chr12:57024007-57024381	GM12878	blood:	n/a	n/a
23	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
24	REST	chr12:57024015-57024389	A549	lung:	n/a	chr12:57024271-57024284 chr12:57024233-57024246
25	MAX	chr12:57023792-57024440	K562	blood:	n/a	n/a
26	PBX3	chr12:57023941-57024415	A549	lung:	n/a	n/a
27	POU2F2	chr12:57024052-57024484	GM12878	blood:	n/a	n/a
28	CREB1	chr12:57023869-57024530	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:57024030-57024364	GM12878	blood:	n/a	n/a
30	MAX	chr12:57023735-57024589	A549	lung:	n/a	n/a
31	FOXP2	chr12:57024049-57024368	PFSK-1	brain:	n/a	n/a
32	IRF1	chr12:57024037-57024389	K562	blood:	n/a	n/a
33	POLR2A	chr12:57023278-57024384	MCF-7	breast:	n/a	n/a
34	EP300	chr12:57023940-57024373	T-47D	breast:	n/a	chr12:57024116-57024132
35	POLR2A	chr12:57022565-57024372	H1-neurons	neurons:	n/a	n/a
36	EGR1	chr12:57023891-57024398	MCF-7	breast:	n/a	chr12:57024121-57024135 chr12:57024120-57024133 chr12:57024122-57024132
37	FOSL1	chr12:57023880-57024512	H1-hESC	embryonic stem cell:	n/a	n/a
38	FOSL2	chr12:57023874-57024467	A549	lung:	n/a	n/a
39	SIX5	chr12:57024017-57024627	A549	lung:	n/a	n/a
40	SP1	chr12:57023896-57024446	H1-hESC	embryonic stem cell:	n/a	chr12:57024125-57024134 chr12:57024045-57024054 chr12:57024041-57024055 chr12:57024121-57024135 chr12:57024044-57024056
41	PAX5	chr12:57023915-57024418	GM12878	blood:	n/a	n/a
42	EGR1	chr12:57023885-57024417	ECC-1	luminal epithelium:	n/a	chr12:57024121-57024135 chr12:57024120-57024133 chr12:57024122-57024132
43	POLR2A	chr12:57022499-57024465	SK-N-MC	brain:	n/a	n/a
44	ZBTB33	chr12:57023935-57024403	HCT-116	colon:	n/a	n/a
45	IRF4	chr12:57024020-57024463	GM12878	blood:	n/a	n/a
46	MTA3	chr12:57022438-57024819	GM12878	blood:	n/a	n/a
47	MAX	chr12:57023992-57024392	NB4	blood:	n/a	n/a
48	ATF3	chr12:57023941-57024425	A549	lung:	n/a	n/a
49	PML	chr12:57023929-57024472	K562	blood:	n/a	n/a
50	ZBTB7A	chr12:57022912-57024512	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56996744..56998793-chr12:57023200..57025186,2	MCF-7	breast:
2	chr12:56861539..56863714-chr12:57023540..57025612,3	MCF-7	breast:
3	chr12:57005351..57008593-chr12:57022462..57024744,3	MCF-7	breast:
4	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
5	chr12:57022708..57024363-chr12:57079075..57081851,2	K562	blood:
6	chr12:57024284..57028695-chr12:57112563..57115410,4	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	chr12:57023932..57026516-chr12:57081163..57083127,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10219697	1.00[EUR][1000 genomes]
rs11171906	1.00[EUR][1000 genomes]
rs11171912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171939	1.00[EUR][1000 genomes]
rs11472	1.00[EUR][1000 genomes]
rs12306723	1.00[EUR][1000 genomes]
rs12308290	1.00[EUR][1000 genomes]
rs12313811	1.00[EUR][1000 genomes]
rs12318580	1.00[EUR][1000 genomes]
rs12321709	1.00[EUR][1000 genomes]
rs2230580	1.00[EUR][1000 genomes]
rs60055969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335264	1.00[EUR][1000 genomes]
rs73335265	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57022000-57024600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:57022200-57024400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:57022200-57024400	Active TSS	Ovary	ovary
4	chr12:57022400-57024400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:57022400-57024400	Active TSS	Aorta	Aorta
6	chr12:57022400-57024600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:57022600-57024400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:57022600-57024400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57022600-57024400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:57022800-57024400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:57023000-57024600	Transcr. at gene 5' and 3'	Right Atrium	heart
12	chr12:57024000-57024400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:57024000-57024400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:57024000-57024600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:57024000-57026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:57024000-57028000	Enhancers	Stomach Mucosa	stomach
17	chr12:57024200-57024400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:57024200-57024400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:57024200-57024400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:57024200-57024400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:57024200-57024400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:57024200-57024400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:57024200-57024400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:57024200-57024400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:57024200-57024400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:57024200-57024400	Flanking Active TSS	Esophagus	oesophagus
27	chr12:57024200-57024400	Flanking Active TSS	Fetal Brain Female	brain
28	chr12:57024200-57024400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr12:57024200-57024400	Flanking Active TSS	Fetal Kidney	kidney
30	chr12:57024200-57024400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr12:57024200-57024400	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr12:57024200-57024400	Flanking Active TSS	Placenta	Placenta
33	chr12:57024200-57024400	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:57024200-57024400	Flanking Active TSS	Gastric	stomach
35	chr12:57024200-57024400	Flanking Active TSS	Left Ventricle	heart
36	chr12:57024200-57024400	Flanking Active TSS	Pancreas	Pancrea
37	chr12:57024200-57024400	Flanking Active TSS	Small Intestine	intestine
38	chr12:57024200-57024400	Flanking Active TSS	Spleen	Spleen
39	chr12:57024200-57024400	Flanking Active TSS	HSMM	muscle
40	chr12:57024200-57024400	Flanking Active TSS	HSMMtube	muscle
41	chr12:57024200-57024400	Flanking Active TSS	HUVEC	blood vessel
42	chr12:57024200-57024600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:57024200-57024600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:57024200-57024600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:57024200-57024600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:57024200-57024600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:57024200-57024600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:57024200-57024600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:57024200-57024600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:57024200-57024600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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