Variant report

Variant	rs13306113
Chromosome Location	chr11:10327720-10327721
allele	C/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	E2F6	chr11:10326936-10327851	A549	lung:	n/a	chr11:10327296-10327311 chr11:10327071-10327082
2	POLR2A	chr11:10325891-10330101	HCT-116	colon:	n/a	n/a
3	CTBP2	chr11:10326013-10328567	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr11:10323956-10331669	HCT-116	colon:	n/a	chr11:10326447-10326456 chr11:10331225-10331234 chr11:10326563-10326572 chr11:10331227-10331234 chr11:10324905-10324915 chr11:10329473-10329484 chr11:10331226-10331235 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10331226-10331234 chr11:10329706-10329716 chr11:10330671-10330679 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716 chr11:10331224-10331235
5	POLR2A	chr11:10326261-10327890	HUVEC	blood vessel:	n/a	n/a
6	ELF1	chr11:10326230-10328385	GM12878	blood:	n/a	n/a
7	TAF7	chr11:10324386-10331444	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr11:10325910-10331758	HepG2	liver:	n/a	chr11:10327166-10327181 chr11:10329744-10329759 chr11:10326566-10326581 chr11:10329041-10329056
9	TAF1	chr11:10325850-10328453	A549	lung:	n/a	n/a
10	GTF2F1	chr11:10327644-10327842	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr11:10324029-10327973	Hela-S3	cervix:	n/a	chr11:10327760-10327770 chr11:10327860-10327870 chr11:10326455-10326465 chr11:10326448-10326458
12	POLR2A	chr11:10324106-10328040	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:10326004-10328426	A549	lung:	n/a	n/a
14	ETS1	chr11:10327148-10328547	A549	lung:	n/a	chr11:10327867-10327878 chr11:10327860-10327871
15	POLR2A	chr11:10327534-10327924	GM12878	blood:	n/a	n/a
16	RAD21	chr11:10325502-10330565	SK-N-SH	brain:	n/a	chr11:10326951-10326963 chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512 chr11:10326172-10326182
17	SIN3AK20	chr11:10326036-10328003	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr11:10327384-10328560	A549	lung:	n/a	n/a
19	POLR2A	chr11:10325955-10328644	H1-hESC	embryonic stem cell:	n/a	n/a
20	SMARCB1	chr11:10326042-10329945	Hela-S3	cervix:	n/a	chr11:10329706-10329715
21	SMC3	chr11:10323716-10327728	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:10323851-10331424	HCT-116	colon:	n/a	n/a
23	TCF7L2	chr11:10327602-10327816	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:10323816-10331549	Hela-S3	cervix:	n/a	n/a
25	TBP	chr11:10325407-10328077	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:10326418-10331473	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr11:10324040-10327869	IMR90	lung:	n/a	chr11:10326951-10326963 chr11:10326172-10326182
28	CHD2	chr11:10327221-10327916	H1-hESC	embryonic stem cell:	n/a	chr11:10327760-10327770 chr11:10327860-10327870
29	KAP1	chr11:10326622-10328081	HEK293	kidney:	n/a	n/a
30	POLR2A	chr11:10327117-10328645	H1-hESC	embryonic stem cell:	n/a	n/a
31	TFAP2C	chr11:10326033-10328384	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:10325942-10330999	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr11:10327688-10327846	K562	blood:	n/a	n/a
34	SIN3AK20	chr11:10323807-10331742	HCT-116	colon:	n/a	n/a
35	TAF1	chr11:10327574-10327983	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:10326058-10328465	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr11:10323478-10330100	A549	lung:	n/a	chr11:10329125-10329138 chr11:10325336-10325345 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10326516-10326525 chr11:10329353-10329363 chr11:10329122-10329141 chr11:10327866-10327876 chr11:10324414-10324425
38	POLR2A	chr11:10323780-10328609	Hela-S3	cervix:	n/a	n/a
39	CHD1	chr11:10322517-10331634	IMR90	lung:	n/a	chr11:10327760-10327770 chr11:10327860-10327870 chr11:10326455-10326465 chr11:10326448-10326458
40	MAX	chr11:10324031-10327826	HepG2	liver:	n/a	chr11:10325336-10325345 chr11:10326516-10326525 chr11:10324414-10324425
41	SIN3AK20	chr11:10323960-10328092	HCT-116	colon:	n/a	n/a
42	E2F6	chr11:10326022-10327739	H1-hESC	embryonic stem cell:	n/a	chr11:10326176-10326185 chr11:10327296-10327311 chr11:10326448-10326457 chr11:10327071-10327082 chr11:10326572-10326581 chr11:10326557-10326567
43	RAD21	chr11:10325988-10327968	H1-hESC	embryonic stem cell:	n/a	chr11:10326951-10326963 chr11:10326172-10326182
44	POLR2A	chr11:10323855-10329868	Hela-S3	cervix:	n/a	n/a
45	YY1	chr11:10327309-10328093	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:10320694-10332551	PANC-1	pancreas:	n/a	n/a
47	CTCF	chr11:10327700-10327850	SK-N-SH_RA	brain:	n/a	n/a
48	MAX	chr11:10323787-10330164	HCT-116	colon:	n/a	chr11:10329125-10329138 chr11:10325336-10325345 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10326516-10326525 chr11:10329353-10329363 chr11:10329122-10329141 chr11:10327866-10327876 chr11:10324414-10324425
49	MYC	chr11:10323823-10327721	A549	lung:	n/a	chr11:10325336-10325345 chr11:10326516-10326525 chr11:10324414-10324425
50	POLR2A	chr11:10323938-10331560	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
2	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:
3	chr11:10075330..10076970-chr11:10327366..10329414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254554	TF binding region
AMPD3	TF binding region
ENSG00000245522	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11042683	1.00[YRI][hapmap]
rs12417184	1.00[YRI][hapmap]
rs13306112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1822290	1.00[AMR][1000 genomes]
rs2044145	1.00[AMR][1000 genomes]
rs2044146	1.00[AMR][1000 genomes]
rs2083712	1.00[AMR][1000 genomes]
rs2403307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2957680	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35389379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36073664	1.00[AMR][1000 genomes]
rs4403799	0.92[ASN][1000 genomes]
rs58795846	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59871004	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10323200-10329800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:10323200-10330200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:10323600-10330000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:10323800-10329000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:10323800-10329600	Active TSS	Placenta Amnion	Placenta Amnion
6	chr11:10323800-10330000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:10323800-10330000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr11:10323800-10330200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:10324000-10328200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr11:10324000-10328600	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr11:10324000-10329200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:10324000-10329800	Active TSS	Aorta	Aorta
13	chr11:10324000-10330000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr11:10324000-10330000	Active TSS	Psoas Muscle	Psoas
15	chr11:10324000-10330200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:10324200-10328000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:10324200-10328000	Active TSS	Small Intestine	intestine
18	chr11:10324200-10329800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:10324200-10329800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:10324200-10329800	Active TSS	Gastric	stomach
21	chr11:10324400-10329800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:10324600-10329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr11:10324800-10330000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr11:10325200-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:10325400-10329800	Active TSS	HSMMtube	muscle
28	chr11:10325600-10328400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:10325600-10330000	Active TSS	Right Atrium	heart
30	chr11:10325800-10328000	Active TSS	HMEC	breast
31	chr11:10325800-10328200	Active TSS	HSMM	muscle
32	chr11:10325800-10328400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr11:10325800-10328400	Active TSS	Brain Substantia Nigra	brain
34	chr11:10326000-10328000	Active TSS	Colon Smooth Muscle	Colon
35	chr11:10326000-10328200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:10326000-10328200	Active TSS	NHEK	skin
37	chr11:10326000-10328600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr11:10326000-10330000	Active TSS	Ovary	ovary
39	chr11:10326200-10328200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:10326200-10328600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
41	chr11:10326200-10329800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:10326400-10328600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr11:10326600-10327800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
44	chr11:10326600-10328000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr11:10326600-10328400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
46	chr11:10326600-10328400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr11:10326600-10328400	Flanking Active TSS	Pancreas	Pancrea
48	chr11:10326600-10328600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:10326600-10328600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr11:10326600-10328600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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