Variant report

Variant	rs13306112
Chromosome Location	chr11:10326841-10326842
allele	A/C
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	CEBPB	chr11:10323999-10327509	Hela-S3	cervix:	n/a	chr11:10325931-10325943
2	NR3C1	chr11:10326128-10326896	A549	lung:	n/a	chr11:10326645-10326654
3	POLR2A	chr11:10325891-10330101	HCT-116	colon:	n/a	n/a
4	CTBP2	chr11:10326013-10328567	H1-hESC	embryonic stem cell:	n/a	n/a
5	ETS1	chr11:10326475-10326841	A549	lung:	n/a	chr11:10326566-10326579
6	USF1	chr11:10326206-10327073	A549	lung:	n/a	n/a
7	ZBTB33	chr11:10326399-10326874	HCT-116	colon:	n/a	n/a
8	HA-E2F1	chr11:10326002-10327401	Hela-S3	cervix:	n/a	chr11:10326572-10326581 chr11:10326176-10326185 chr11:10326448-10326457 chr11:10326557-10326567 chr11:10327071-10327082
9	POLR2A	chr11:10326176-10326858	HL-60	blood:	n/a	n/a
10	E2F6	chr11:10326122-10326853	A549	lung:	n/a	chr11:10326572-10326581 chr11:10326176-10326185 chr11:10326448-10326457 chr11:10326557-10326567
11	YY1	chr11:10326080-10326877	H1-hESC	embryonic stem cell:	n/a	chr11:10326453-10326464 chr11:10326446-10326457
12	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
13	POLR2A	chr11:10326525-10327107	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:10326261-10327890	HUVEC	blood vessel:	n/a	n/a
15	ELF1	chr11:10326230-10328385	GM12878	blood:	n/a	n/a
16	REST	chr11:10326189-10326913	HL-60	blood:	n/a	n/a
17	TAF7	chr11:10324386-10331444	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr11:10326509-10327213	K562	blood:	n/a	n/a
19	CTCF	chr11:10326800-10326950	NHDF-neo	bronchial:	n/a	n/a
20	HEY1	chr11:10325910-10331758	HepG2	liver:	n/a	chr11:10327166-10327181 chr11:10329744-10329759 chr11:10326566-10326581 chr11:10329041-10329056
21	TAF1	chr11:10325850-10328453	A549	lung:	n/a	n/a
22	POLR2A	chr11:10326068-10326907	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:10325494-10327039	HEK293	kidney:	n/a	n/a
24	CTCF	chr11:10323213-10327582	A549	lung:	n/a	n/a
25	CHD2	chr11:10324029-10327973	Hela-S3	cervix:	n/a	chr11:10327760-10327770 chr11:10327860-10327870 chr11:10326455-10326465 chr11:10326448-10326458
26	REST	chr11:10323825-10327134	A549	lung:	n/a	chr11:10324706-10324726 chr11:10324706-10324726 chr11:10324841-10324861 chr11:10324470-10324483 chr11:10324706-10324726 chr11:10324845-10324858 chr11:10324707-10324725
27	POLR2A	chr11:10324106-10328040	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:10326004-10328426	A549	lung:	n/a	n/a
29	POLR2A	chr11:10326042-10327299	A549	lung:	n/a	n/a
30	GATA1	chr11:10326726-10327464	PBDE	blood:	n/a	chr11:10327093-10327103 chr11:10327093-10327102
31	CEBPB	chr11:10325087-10326873	A549	lung:	n/a	chr11:10325931-10325943
32	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
33	POLR2A	chr11:10326154-10327533	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr11:10326036-10328003	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr11:10325982-10326844	SK-N-SH	brain:	n/a	n/a
36	JUND	chr11:10325945-10327330	A549	lung:	n/a	chr11:10326447-10326456 chr11:10326563-10326572
37	POLR2A	chr11:10325955-10328644	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:10323526-10327709	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr11:10325194-10327128	Hela-S3	cervix:	n/a	chr11:10326951-10326963 chr11:10326172-10326182
40	SMARCB1	chr11:10326042-10329945	Hela-S3	cervix:	n/a	chr11:10329706-10329715
41	ELK4	chr11:10326223-10326929	Hela-S3	cervix:	n/a	n/a
42	SMC3	chr11:10323716-10327728	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:10323851-10331424	HCT-116	colon:	n/a	n/a
44	POLR2A	chr11:10326082-10327018	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:10326039-10326923	PFSK-1	brain:	n/a	n/a
46	ATF3	chr11:10326100-10327011	A549	lung:	n/a	chr11:10326562-10326571
47	MAX	chr11:10326224-10327457	HepG2	liver:	n/a	chr11:10326516-10326525
48	TCF7L2	chr11:10326663-10327336	PANC-1	pancreas:	n/a	n/a
49	RCOR1	chr11:10323888-10327369	Hela-S3	cervix:	n/a	n/a
50	BCL3	chr11:10325110-10326980	A549	lung:	n/a	chr11:10326199-10326207 chr11:10326562-10326575 chr11:10326567-10326580

No.	Distal block	Cell Line	Cell type
1	chr11:10326614..10327186-chr2:10829688..10830632,2	Hela-S3	cervix:
2	chr11:10314668..10317041-chr11:10325018..10327085,3	K562	blood:
3	chr11:10326508..10327115-chr19:17666397..17667243,2	Hela-S3	cervix:
4	chr11:10326665..10327414-chr6:96969285..96969849,2	Hela-S3	cervix:
5	chr11:10326324..10327047-chr16:31191428..31191950,2	Hela-S3	cervix:
6	chr11:10326410..10327206-chr18:61636963..61637849,2	Hela-S3	cervix:
7	chr11:10326505..10327152-chr12:53447813..53448687,2	Hela-S3	cervix:
8	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
9	chr11:10293712..10297432-chr11:10324720..10326890,3	MCF-7	breast:
10	chr1:162530305..162531118-chr11:10326543..10327161,2	Hela-S3	cervix:
11	chr11:9594508..9596451-chr11:10325420..10327263,2	MCF-7	breast:
12	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:
13	chr1:147735690..147736417-chr11:10326162..10327114,3	HCT-116	colon:
14	chr11:10326117..10327093-chr2:202097624..202098368,2	HCT-116	colon:
15	chr1:193074228..193075188-chr11:10326227..10327050,2	Hela-S3	cervix:

Variant related genes	Relation type
ADM	TF binding region
AMPD3	TF binding region
ENSG00000254554	TF binding region
ENSG00000233797	Chromatin interaction
ENSG00000259788	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000130309	Chromatin interaction
ENSG00000257337	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000014123	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000166401	Chromatin interaction
ENSG00000064012	Chromatin interaction
ENSG00000199879	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000254719	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11042683	1.00[YRI][hapmap]
rs12417184	1.00[YRI][hapmap]
rs13306113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1470258	1.00[YRI][hapmap]
rs1562782	0.85[CHD][hapmap]
rs1822290	1.00[AMR][1000 genomes]
rs1822292	1.00[YRI][hapmap]
rs2044142	0.83[CHD][hapmap]
rs2044145	1.00[AMR][1000 genomes]
rs2044146	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2083712	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2083713	0.88[YRI][hapmap]
rs2403292	0.80[YRI][hapmap]
rs2403307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2920154	0.88[YRI][hapmap]
rs2957657	0.83[CHD][hapmap]
rs2957680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35389379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36073664	1.00[AMR][1000 genomes]
rs4281477	0.80[YRI][hapmap]
rs4403799	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4910095	0.80[YRI][hapmap]
rs58795846	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59871004	1.00[AMR][1000 genomes]
rs7935934	1.00[YRI][hapmap]
rs7938491	0.80[YRI][hapmap]

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	chr11:10323800-10327200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:10323800-10327400	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:10323800-10329000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:10323800-10329600	Active TSS	Placenta Amnion	Placenta Amnion
8	chr11:10323800-10330000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:10323800-10330000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr11:10323800-10330200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:10324000-10327200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:10324000-10327200	Active TSS	A549	lung
13	chr11:10324000-10328200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:10324000-10328600	Flanking Bivalent TSS/Enh	Dnd41	blood
15	chr11:10324000-10329200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:10324000-10329800	Active TSS	Aorta	Aorta
17	chr11:10324000-10330000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr11:10324000-10330000	Active TSS	Psoas Muscle	Psoas
19	chr11:10324000-10330200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr11:10324200-10327400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:10324200-10327400	Active TSS	Fetal Kidney	kidney
22	chr11:10324200-10328000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:10324200-10328000	Active TSS	Small Intestine	intestine
24	chr11:10324200-10329800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:10324200-10329800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:10324200-10329800	Active TSS	Gastric	stomach
27	chr11:10324400-10327600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr11:10324400-10329800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:10324600-10327000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:10324600-10329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr11:10324800-10328600	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr11:10324800-10330000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr11:10325200-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:10325400-10327200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:10325400-10327400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:10325400-10329800	Active TSS	HSMMtube	muscle
38	chr11:10325600-10327200	Active TSS	Right Ventricle	heart
39	chr11:10325600-10327400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:10325600-10328400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:10325600-10330000	Active TSS	Right Atrium	heart
42	chr11:10325800-10327200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:10325800-10327200	Active TSS	Osteobl	bone
44	chr11:10325800-10327400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:10325800-10327400	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:10325800-10327400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:10325800-10327400	Active TSS	Placenta	Placenta
48	chr11:10325800-10327600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:10325800-10327600	Active TSS	Left Ventricle	heart
50	chr11:10325800-10328000	Active TSS	HMEC	breast

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