Variant report

Variant	rs11231922
Chromosome Location	chr11:64765829-64765830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:64765741-64765961	K562	blood:	n/a	n/a
2	YY1	chr11:64765656-64765880	GM12891	blood:	n/a	n/a
3	SIN3AK20	chr11:64765518-64766043	MCF-7	breast:	n/a	n/a
4	SRF	chr11:64765546-64766049	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr11:64765739-64766072	K562	blood:	n/a	n/a
6	MAX	chr11:64765691-64766004	HepG2	liver:	n/a	n/a
7	YY1	chr11:64765665-64765910	H1-hESC	embryonic stem cell:	n/a	n/a
8	SRF	chr11:64765427-64766262	HCT-116	colon:	n/a	n/a
9	SETDB1	chr11:64765601-64766205	U2OS	brain:	n/a	n/a
10	MAX	chr11:64765773-64765884	H1-hESC	embryonic stem cell:	n/a	n/a
11	CUX1	chr11:64765669-64765957	GM12878	blood:	n/a	n/a
12	SRF	chr11:64765545-64765991	GM12878	blood:	n/a	n/a
13	MAFK	chr11:64765625-64765980	HepG2	liver:	n/a	n/a
14	NR2C2	chr11:64765592-64766014	Hela-S3	cervix:	n/a	n/a
15	NR2C2	chr11:64765592-64765999	K562	blood:	n/a	n/a
16	SRF	chr11:64765623-64765997	HepG2	liver:	n/a	n/a
17	GATA3	chr11:64765500-64765886	T-47D	breast:	n/a	n/a
18	BHLHE40	chr11:64765724-64766004	K562	blood:	n/a	n/a
19	POLR2A	chr11:64765698-64766038	K562	blood:	n/a	n/a
20	MAX	chr11:64765743-64765969	K562	blood:	n/a	n/a
21	SRF	chr11:64765559-64766026	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr11:64765735-64766015	K562	blood:	n/a	n/a
23	TBL1XR1	chr11:64765630-64765886	K562	blood:	n/a	n/a
24	GATA3	chr11:64765505-64765930	MCF-7	breast:	n/a	n/a
25	EP300	chr11:64765675-64766370	K562	blood:	n/a	n/a
26	POLR2A	chr11:64765790-64765989	HepG2	liver:	n/a	n/a
27	SRF	chr11:64765634-64765960	HepG2	liver:	n/a	n/a
28	MYC	chr11:64765735-64765894	K562	blood:	n/a	n/a
29	ZNF143	chr11:64765670-64765968	K562	blood:	n/a	n/a
30	FOXA2	chr11:64765664-64765911	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:64765756-64766011	HepG2	liver:	n/a	n/a
32	SRF	chr11:64765589-64765996	H1-hESC	embryonic stem cell:	n/a	n/a
33	ARID3A	chr11:64765575-64765936	HepG2	liver:	n/a	n/a
34	SRF	chr11:64765633-64765972	K562	blood:	n/a	n/a
35	SRF	chr11:64765683-64765948	GM12878	blood:	n/a	n/a
36	JUND	chr11:64765656-64766025	K562	blood:	n/a	n/a
37	YY1	chr11:64765700-64765923	SK-N-SH_RA	brain:	n/a	n/a
38	SRF	chr11:64765743-64765889	GM12878	blood:	n/a	n/a
39	YY1	chr11:64765667-64765940	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFF	chr11:64765646-64765922	HepG2	liver:	n/a	n/a
41	YY1	chr11:64765714-64765957	K562	blood:	n/a	n/a
42	IRF1	chr11:64765601-64766344	K562	blood:	n/a	n/a
43	RUNX3	chr11:64765612-64765963	GM12878	blood:	n/a	n/a
44	THAP1	chr11:64765739-64765930	K562	blood:	n/a	n/a
45	SRF	chr11:64765555-64766015	ECC-1	luminal epithelium:	n/a	n/a
46	SRF	chr11:64765465-64766043	MCF-7	breast:	n/a	n/a
47	SRF	chr11:64765491-64766136	HCT-116	colon:	n/a	n/a
48	MAX	chr11:64765701-64766038	K562	blood:	n/a	n/a
49	POLR2A	chr11:64765774-64765961	GM12878	blood:	n/a	n/a
50	SRF	chr11:64765587-64765968	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64644496..64646920-chr11:64764507..64767051,3	K562	blood:
2	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
3	chr11:64765823..64767446-chr11:64774449..64776725,2	K562	blood:
4	chr11:64690425..64693604-chr11:64763571..64767241,5	K562	blood:
5	chr11:64764651..64767440-chr11:64768084..64771691,3	MCF-7	breast:
6	chr11:64764254..64767473-chr11:64863464..64866192,3	K562	blood:
7	chr11:64764510..64767104-chr11:64900807..64902355,2	MCF-7	breast:
8	chr11:64764578..64767162-chr11:64880416..64882177,2	K562	blood:
9	chr11:64691280..64693124-chr11:64764223..64766017,2	K562	blood:
10	chr11:64703654..64705753-chr11:64764551..64767284,2	MCF-7	breast:
11	chr11:64645266..64647348-chr11:64764267..64766007,3	K562	blood:
12	chr11:64764913..64771112-chr11:64779041..64784424,8	K562	blood:

No data

Variant related genes	Relation type
BATF2	TF binding region
ENSG00000162298	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11231898	1.00[AMR][1000 genomes]
rs11231909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741398	1.00[AMR][1000 genomes]
rs61746812	1.00[AMR][1000 genomes]
rs7111659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64757200-64766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:64758000-64766000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:64764200-64768400	Enhancers	Dnd41	blood
4	chr11:64764600-64767600	Enhancers	Fetal Intestine Large	intestine
5	chr11:64764800-64766000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:64764800-64766000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:64764800-64766200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:64764800-64766400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:64764800-64766800	Enhancers	Placenta	Placenta
10	chr11:64764800-64767000	Enhancers	Stomach Mucosa	stomach
11	chr11:64764800-64767400	Enhancers	Pancreas	Pancrea
12	chr11:64764800-64769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:64764800-64769200	Weak transcription	Right Ventricle	heart
14	chr11:64764800-64769600	Weak transcription	Left Ventricle	heart
15	chr11:64764800-64774000	Weak transcription	NHDF-Ad	bronchial
16	chr11:64764800-64774000	Weak transcription	NHLF	lung
17	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
18	chr11:64765000-64766200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:64765000-64766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:64765000-64766600	Weak transcription	Fetal Kidney	kidney
21	chr11:64765000-64767400	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:64765000-64767600	Enhancers	Fetal Intestine Small	intestine
23	chr11:64765000-64769000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:64765000-64769400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:64765000-64770400	Weak transcription	Fetal Stomach	stomach
26	chr11:64765000-64774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:64765000-64780600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:64765200-64766200	Weak transcription	Colonic Mucosa	Colon
29	chr11:64765400-64767200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:64765600-64766000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:64765600-64766200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:64765600-64766600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:64765600-64766800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:64765600-64767400	Enhancers	Spleen	Spleen
35	chr11:64765600-64767400	Enhancers	A549	lung
36	chr11:64765800-64766000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:64765800-64766000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:64765800-64766000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:64765800-64766000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:64765800-64766000	Flanking Active TSS	HepG2	liver
41	chr11:64765800-64766400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:64765800-64766800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:64765800-64767000	Flanking Active TSS	K562	blood
44	chr11:64765800-64767400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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