Variant report

Variant	rs10898872
Chromosome Location	chr11:72497425-72497426
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	GATA3	chr11:72497333-72497746	T-47D	breast:	n/a	n/a
2	GATA3	chr11:72497220-72498114	MCF-7	breast:	n/a	chr11:72497801-72497818
3	MYBL2	chr11:72497296-72498920	HepG2	liver:	n/a	n/a
4	HA-E2F1	chr11:72497138-72497988	MCF-7	breast:	n/a	n/a
5	ESR1	chr11:72497387-72497884	T-47D	breast:	n/a	chr11:72497660-72497675 chr11:72497659-72497676 chr11:72497665-72497682
6	SIN3AK20	chr11:72496738-72498086	MCF-7	breast:	n/a	n/a
7	HDAC2	chr11:72497296-72497813	HepG2	liver:	n/a	chr11:72497577-72497586
8	TCF12	chr11:72496967-72498234	MCF-7	breast:	n/a	chr11:72497776-72497784 chr11:72497577-72497586
9	ESR1	chr11:72497268-72497948	T-47D	breast:	n/a	chr11:72497660-72497675 chr11:72497659-72497676 chr11:72497665-72497682
10	FOXA1	chr11:72497290-72497832	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:72497262-72497840	HepG2	liver:	n/a	n/a
12	FOXA2	chr11:72497334-72497736	HepG2	liver:	n/a	n/a
13	HNF4G	chr11:72497389-72497765	HepG2	liver:	n/a	chr11:72497738-72497746 chr11:72497579-72497587
14	EP300	chr11:72497251-72497886	HepG2	liver:	n/a	chr11:72497576-72497586
15	ZEB1	chr11:72497118-72498064	HepG2	liver:	n/a	n/a
16	SRF	chr11:72497158-72498033	MCF-7	breast:	n/a	n/a
17	NR2F2	chr11:72496403-72498012	MCF-7	breast:	n/a	n/a
18	ESR1	chr11:72497231-72497966	T-47D	breast:	n/a	chr11:72497660-72497675 chr11:72497659-72497676 chr11:72497665-72497682
19	HDAC2	chr11:72497215-72498020	MCF-7	breast:	n/a	chr11:72497577-72497586
20	NR2F2	chr11:72496419-72498126	MCF-7	breast:	n/a	n/a
21	MAX	chr11:72497363-72498050	MCF-7	breast:	n/a	n/a
22	ZNF217	chr11:72497277-72497904	MCF-7	breast:	n/a	n/a
23	FOXA1	chr11:72497350-72497841	T-47D	breast:	n/a	n/a
24	EP300	chr11:72497244-72498035	MCF-7	breast:	n/a	chr11:72497576-72497586
25	EP300	chr11:72497321-72497791	T-47D	breast:	n/a	chr11:72497576-72497586
26	ESR1	chr11:72497258-72497990	T-47D	breast:	n/a	chr11:72497660-72497675 chr11:72497659-72497676 chr11:72497665-72497682
27	HEY1	chr11:72497324-72497820	HepG2	liver:	n/a	n/a
28	TEAD4	chr11:72497321-72497888	MCF-7	breast:	n/a	n/a
29	FOXM1	chr11:72497076-72498060	MCF-7	breast:	n/a	n/a
30	TCF12	chr11:72497165-72498105	MCF-7	breast:	n/a	chr11:72497776-72497784 chr11:72497577-72497586
31	ESR1	chr11:72497342-72497939	T-47D	breast:	n/a	chr11:72497660-72497675 chr11:72497659-72497676 chr11:72497665-72497682
32	EP300	chr11:72497329-72497859	T-47D	breast:	n/a	chr11:72497576-72497586
33	NFIC	chr11:72497351-72497698	HepG2	liver:	n/a	n/a
34	FOXA1	chr11:72497248-72497822	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:72497369-72497856	T-47D	breast:	n/a	n/a
36	HDAC2	chr11:72497255-72497852	MCF-7	breast:	n/a	chr11:72497577-72497586
37	GATA3	chr11:72497251-72498064	MCF-7	breast:	n/a	chr11:72497801-72497818
38	GATA3	chr11:72497390-72497798	T-47D	breast:	n/a	n/a
39	PML	chr11:72497262-72497923	MCF-7	breast:	n/a	n/a
40	FOXA2	chr11:72497360-72497724	A549	lung:	n/a	n/a
41	HDAC2	chr11:72497177-72497927	HepG2	liver:	n/a	chr11:72497577-72497586
42	RXRA	chr11:72497337-72497678	HepG2	liver:	n/a	n/a
43	ELF1	chr11:72497319-72498080	MCF-7	breast:	n/a	n/a
44	MBD4	chr11:72497375-72497914	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr11:72497141-72498144	MCF-7	breast:	n/a	n/a
46	FOXM1	chr11:72496933-72498053	MCF-7	breast:	n/a	n/a
47	ZEB1	chr11:72496948-72499159	HepG2	liver:	n/a	chr11:72498543-72498551 chr11:72498471-72498480
48	SP1	chr11:72497234-72497805	HepG2	liver:	n/a	n/a
49	CEBPB	chr11:72496807-72497979	MCF-7	breast:	n/a	n/a
50	TCF7L2	chr11:72497409-72497835	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72497221..72498074-chr11:72534491..72535420,6	MCF-7	breast:
2	chr11:72497180..72498104-chr11:72904781..72906742,13	MCF-7	breast:
3	chr11:72497171..72498123-chr11:72938613..72939618,3	MCF-7	breast:
4	chr11:72456734..72457426-chr11:72497355..72498177,2	MCF-7	breast:
5	chr11:72431813..72439722-chr11:72491472..72498611,14	MCF-7	breast:
6	chr11:69706039..69706935-chr11:72497194..72497728,2	MCF-7	breast:
7	chr11:72497262..72498128-chr11:76483358..76484181,4	MCF-7	breast:
8	chr11:72484060..72484672-chr11:72497241..72498129,3	MCF-7	breast:
9	chr11:71750734..71752715-chr11:72497083..72498730,2	MCF-7	breast:
10	chr11:72497247..72498013-chr11:72534615..72535170,2	MCF-7	breast:
11	chr11:72497239..72498163-chr11:72905493..72906742,9	MCF-7	breast:
12	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
13	chr11:72411258..72412804-chr11:72495649..72497466,2	MCF-7	breast:
14	chr11:72495812..72498226-chr11:72534239..72536924,2	K562	blood:
15	chr11:72494504..72497467-chr11:73086527..73089033,2	MCF-7	breast:
16	chr11:72467563..72470218-chr11:72497187..72500008,4	K562	blood:
17	chr11:72497223..72498059-chr11:72534562..72535419,5	MCF-7	breast:
18	chr11:69706039..69706935-chr11:72497194..72497728,3	MCF-7	breast:
19	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:
20	chr11:72483759..72484574-chr11:72497146..72497688,2	MCF-7	breast:
21	chr11:72497149..72498179-chr11:72903146..72904050,4	MCF-7	breast:
22	chr11:72456618..72457426-chr11:72497110..72497855,2	MCF-7	breast:
23	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:
24	chr11:72495938..72498335-chr11:72525039..72527037,2	MCF-7	breast:

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000245148	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11235595	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235597	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1126205	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3765638	0.84[ASN][1000 genomes]
rs4456279	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs577217	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61894194	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493400-72499200	Weak transcription	Hela-S3	cervix
2	chr11:72493400-72500200	Weak transcription	Osteobl	bone
3	chr11:72493600-72497600	Weak transcription	Spleen	Spleen
4	chr11:72493600-72499000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:72493600-72499200	Weak transcription	Left Ventricle	heart
6	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
8	chr11:72493800-72497600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:72493800-72497600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:72493800-72497600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:72493800-72497800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:72493800-72498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:72493800-72498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:72493800-72498800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:72493800-72499000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:72493800-72499400	Weak transcription	Right Ventricle	heart
17	chr11:72493800-72500400	Weak transcription	A549	lung
18	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
19	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:72494000-72497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:72494000-72497800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:72494000-72498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:72494000-72498200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:72494000-72498600	Enhancers	Fetal Intestine Small	intestine
29	chr11:72494000-72500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
33	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:72494200-72497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:72494200-72497600	Weak transcription	Small Intestine	intestine
39	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
40	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:72494400-72497600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:72494400-72498200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:72494600-72497600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:72494600-72499800	Enhancers	Colonic Mucosa	Colon
45	chr11:72494600-72500200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:72494800-72498400	Weak transcription	Fetal Heart	heart
47	chr11:72494800-72500200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
49	chr11:72495400-72498200	Weak transcription	Fetal Brain Female	brain
50	chr11:72496000-72501400	Enhancers	Placenta	Placenta

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