Variant report

Variant	rs11545200
Chromosome Location	chr11:65319751-65319752
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	BRCA1	chr11:65319591-65319804	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:65319618-65319835	Medullo	brain:	n/a	n/a
3	CTCF	chr11:65319561-65320011	K562	blood:	n/a	n/a
4	CTCF	chr11:65319620-65319770	GM12872	blood:	n/a	n/a
5	CTCF	chr11:65319680-65319830	K562	blood:	n/a	n/a
6	CTCF	chr11:65319680-65319830	GM12868	blood:	n/a	n/a
7	CTCF	chr11:65319640-65319790	HepG2	liver:	n/a	n/a
8	RAD21	chr11:65319551-65319895	SK-N-SH_RA	brain:	n/a	n/a
9	SMC3	chr11:65319518-65319906	Hela-S3	cervix:	n/a	n/a
10	ZNF143	chr11:65319561-65319872	GM12878	blood:	n/a	n/a
11	MAZ	chr11:65319619-65319868	K562	blood:	n/a	n/a
12	CTCF	chr11:65319660-65319810	HPAF	blood vessel:	n/a	n/a
13	RCOR1	chr11:65319616-65319840	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr11:65319516-65319910	HepG2	liver:	n/a	n/a
15	MYC	chr11:65319713-65319782	HepG2	liver:	n/a	n/a
16	CTCF	chr11:65319640-65319790	AG04450	lung:	n/a	n/a
17	RAD21	chr11:65319405-65320084	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr11:65319439-65319874	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr11:65319620-65319770	GM12871	blood:	n/a	n/a
20	CTCF	chr11:65319660-65319810	HVMF	connective:	n/a	n/a
21	SP1	chr11:65319519-65319932	A549	lung:	n/a	n/a
22	RAD21	chr11:65319606-65319792	GM12878	blood:	n/a	n/a
23	HNF4G	chr11:65318942-65319953	HepG2	liver:	n/a	chr11:65319379-65319394 chr11:65319293-65319308 chr11:65319407-65319429 chr11:65319159-65319173 chr11:65319152-65319165 chr11:65319153-65319165 chr11:65319286-65319300 chr11:65319287-65319299 chr11:65319229-65319243 chr11:65319153-65319165 chr11:65319152-65319165 chr11:65319152-65319165 chr11:65319150-65319165 chr11:65319287-65319299 chr11:65319230-65319242 chr11:65319153-65319165 chr11:65319157-65319169 chr11:65319153-65319166 chr11:65319152-65319166 chr11:65319150-65319168 chr11:65319153-65319165 chr11:65319154-65319166 chr11:65319291-65319303
24	SMC3	chr11:65319588-65319848	HepG2	liver:	n/a	n/a
25	CHD2	chr11:65319685-65319778	HepG2	liver:	n/a	n/a
26	CTCF	chr11:65319583-65319870	GM19240	blood:	n/a	n/a
27	MXI1	chr11:65319492-65319913	HepG2	liver:	n/a	n/a
28	CTCF	chr11:65319594-65319849	IMR90	lung:	n/a	n/a
29	CTCF	chr11:65319640-65319790	NHLF	lung:	n/a	n/a
30	CTCF	chr11:65319640-65319852	ProgFib	skin:	n/a	n/a
31	SMC3	chr11:65319627-65319859	K562	blood:	n/a	n/a
32	CTCF	chr11:65319576-65319878	GM19238	blood:	n/a	n/a
33	MAX	chr11:65319688-65319906	HepG2	liver:	n/a	n/a
34	ZNF143	chr11:65319594-65319850	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:65319660-65319810	HMEC	breast:	n/a	n/a
36	CTCF	chr11:65319640-65319790	RPTEC	kidney:	n/a	n/a
37	MAFK	chr11:65319656-65319856	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:65319522-65319780	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:65319660-65319810	GM12875	blood:	n/a	n/a
40	POLR2A	chr11:65319371-65319879	HL-60	blood:	n/a	n/a
41	ZNF143	chr11:65319590-65319875	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:65319550-65319908	K562	blood:	n/a	n/a
43	MYC	chr11:65319575-65319810	K562	blood:	n/a	n/a
44	MAX	chr11:65319654-65319808	K562	blood:	n/a	n/a
45	RCOR1	chr11:65319067-65319831	K562	blood:	n/a	n/a
46	CTCF	chr11:65319620-65319770	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr11:65319628-65319827	HepG2	liver:	n/a	n/a
48	CTCF	chr11:65319614-65319859	LNCaP	prostate:	n/a	n/a
49	RCOR1	chr11:65319579-65319859	HepG2	liver:	n/a	n/a
50	CTCF	chr11:65319640-65319790	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65317456..65320108-chr11:65409381..65411829,2	K562	blood:
2	chr11:65264365..65266366-chr11:65317003..65319991,2	K562	blood:
3	chr11:65319428..65321509-chr11:65390618..65393221,2	MCF-7	breast:
4	chr11:65317777..65320540-chr11:65382585..65385188,2	K562	blood:
5	chr11:65264483..65267723-chr11:65317387..65320009,5	MCF-7	breast:
6	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
7	chr11:65307860..65308586-chr11:65319285..65320130,2	K562	blood:
8	chr11:65308291..65309442-chr11:65319131..65320116,6	MCF-7	breast:
9	chr11:65190162..65194738-chr11:65316952..65321274,6	K562	blood:
10	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:
11	chr11:65318195..65320071-chr11:65547732..65549881,2	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
ENSG00000213445	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11600543	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11602375	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11604369	0.84[EUR][1000 genomes]
rs11605810	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11605937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1194337	0.82[EUR][1000 genomes]
rs12799784	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34789990	0.80[EUR][1000 genomes]
rs35111506	0.88[EUR][1000 genomes]
rs35138901	0.84[EUR][1000 genomes]
rs3782089	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71462347	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935877	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
6	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
7	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
8	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
9	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
10	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	949 gene(s)	inside rSNPs	diseases
11	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
12	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
13	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
14	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
15	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	107 gene(s)	inside rSNPs	diseases
18	nsv897729	chr11:65302893-65322548	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
19	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65307200-65322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65309200-65320600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:65309200-65320600	Strong transcription	Osteobl	bone
4	chr11:65309200-65322200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:65309200-65323000	Weak transcription	Psoas Muscle	Psoas
6	chr11:65309400-65323000	Weak transcription	Right Atrium	heart
7	chr11:65309800-65322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:65310200-65320400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr11:65310200-65320800	Strong transcription	Brain Cingulate Gyrus	brain
10	chr11:65310400-65322000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65310800-65324000	Weak transcription	Fetal Kidney	kidney
12	chr11:65313000-65320800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:65314600-65321000	Strong transcription	Fetal Stomach	stomach
14	chr11:65314800-65320600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65314800-65321600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:65314800-65322800	Weak transcription	NHEK	skin
17	chr11:65315000-65319800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:65315000-65320200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:65315200-65320200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:65315200-65320400	Strong transcription	Colon Smooth Muscle	Colon
21	chr11:65315200-65321200	Weak transcription	Fetal Brain Male	brain
22	chr11:65315400-65321200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:65316600-65320800	Strong transcription	Brain Hippocampus Middle	brain
24	chr11:65316600-65321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:65317000-65322400	Weak transcription	HSMMtube	muscle
26	chr11:65317600-65321400	Weak transcription	Fetal Brain Female	brain
27	chr11:65318000-65320400	Strong transcription	Aorta	Aorta
28	chr11:65318000-65320600	Strong transcription	Brain Germinal Matrix	brain
29	chr11:65318000-65321000	Genic enhancers	Placenta	Placenta
30	chr11:65318200-65319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:65318200-65320200	Strong transcription	NH-A	brain
32	chr11:65318400-65319800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:65318400-65319800	Strong transcription	Left Ventricle	heart
34	chr11:65318400-65320000	Flanking Active TSS	Hela-S3	cervix
35	chr11:65318400-65320200	Genic enhancers	Pancreas	Pancrea
36	chr11:65318400-65320400	Genic enhancers	Esophagus	oesophagus
37	chr11:65318400-65320400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:65318400-65320400	Strong transcription	HUVEC	blood vessel
39	chr11:65318400-65320600	Genic enhancers	A549	lung
40	chr11:65318400-65320800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:65318400-65320800	Genic enhancers	Spleen	Spleen
42	chr11:65318400-65321600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:65318400-65321800	Strong transcription	NHLF	lung
44	chr11:65318400-65322000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:65318400-65323000	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:65318600-65320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:65318600-65320400	Enhancers	Fetal Thymus	thymus
48	chr11:65318600-65321400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:65318600-65322400	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:65318600-65323600	Genic enhancers	Fetal Muscle Leg	muscle

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