Variant report

Variant	rs370953966
Chromosome Location	chr11:65325604-65325605
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	MAX	chr11:65325546-65327362	ECC-1	luminal epithelium:	n/a	chr11:65326583-65326593 chr11:65325980-65325990
2	POLR2A	chr11:65325475-65326847	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr11:65325554-65325951	PFSK-1	brain:	n/a	n/a
4	MXI1	chr11:65324370-65325987	IMR90	lung:	n/a	n/a
5	YY1	chr11:65325575-65325852	K562	blood:	n/a	chr11:65325783-65325794 chr11:65325785-65325794
6	ZBTB7A	chr11:65324988-65326730	K562	blood:	n/a	chr11:65325577-65325585
7	TCF12	chr11:65325547-65328080	ECC-1	luminal epithelium:	n/a	chr11:65326414-65326424
8	MAX	chr11:65325486-65326345	MCF-7	breast:	n/a	chr11:65325980-65325990
9	POLR2A	chr11:65325516-65327323	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:65325583-65326319	PANC-1	pancreas:	n/a	n/a
11	TEAD4	chr11:65325512-65326362	K562	blood:	n/a	n/a
12	POLR2A	chr11:65325311-65326150	PFSK-1	brain:	n/a	n/a
13	REST	chr11:65325512-65325946	SK-N-SH	brain:	n/a	chr11:65325888-65325901
14	CBX3	chr11:65325540-65325960	K562	blood:	n/a	n/a
15	POLR2A	chr11:65325473-65327027	HUVEC	blood vessel:	n/a	n/a
16	HCFC1	chr11:65325379-65326730	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:65325248-65326003	HCT-116	colon:	n/a	n/a
18	TEAD4	chr11:65325579-65327144	ECC-1	luminal epithelium:	n/a	n/a
19	ZBTB7A	chr11:65325554-65328426	ECC-1	luminal epithelium:	n/a	chr11:65325577-65325585 chr11:65327180-65327191
20	ZNF263	chr11:65325592-65325923	HEK293-T-REx	kidney:	n/a	chr11:65325711-65325732
21	POLR2A	chr11:65325254-65326727	HUVEC	blood vessel:	n/a	n/a
22	EP300	chr11:65325409-65326228	SK-N-SH	brain:	n/a	chr11:65325849-65325865 chr11:65325533-65325549 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869
23	POLR2A	chr11:65325540-65328890	U87	brain:	n/a	n/a
24	POLR2A	chr11:65325511-65326039	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:65325574-65325900	A549	lung:	n/a	n/a
26	HEY1	chr11:65325544-65325892	HepG2	liver:	n/a	chr11:65325857-65325872 chr11:65325846-65325861
27	CTCF	chr11:65325600-65325750	HCM	heart:	n/a	n/a
28	YY1	chr11:65325571-65326342	K562	blood:	n/a	chr11:65326020-65326034 chr11:65325862-65325873 chr11:65325783-65325794 chr11:65325864-65325873 chr11:65325785-65325794 chr11:65325861-65325870 chr11:65326023-65326032
29	POLR2A	chr11:65325493-65326019	U87	brain:	n/a	n/a
30	YY1	chr11:65325564-65325898	HepG2	liver:	n/a	chr11:65325862-65325873 chr11:65325783-65325794 chr11:65325864-65325873 chr11:65325785-65325794 chr11:65325861-65325870
31	SIN3AK20	chr11:65325530-65325984	PANC-1	pancreas:	n/a	n/a
32	FOSL2	chr11:65325586-65328762	SK-N-SH	brain:	n/a	chr11:65326109-65326118 chr11:65326808-65326816 chr11:65327674-65327685 chr11:65326806-65326818 chr11:65326114-65326123
33	TEAD4	chr11:65325509-65326351	SK-N-SH	brain:	n/a	n/a
34	EP300	chr11:65325583-65328254	ECC-1	luminal epithelium:	n/a	chr11:65325849-65325865 chr11:65326384-65326398 chr11:65326643-65326659 chr11:65326362-65326371 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869 chr11:65326647-65326663
35	POLR2A	chr11:65325559-65325936	SK-N-SH	brain:	n/a	n/a
36	EP300	chr11:65325578-65327189	ECC-1	luminal epithelium:	n/a	chr11:65325849-65325865 chr11:65326384-65326398 chr11:65326643-65326659 chr11:65326362-65326371 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869 chr11:65326647-65326663
37	NFIC	chr11:65325551-65328314	ECC-1	luminal epithelium:	n/a	n/a
38	UBTF	chr11:65325583-65326249	K562	blood:	n/a	n/a
39	CTCF	chr11:65325560-65325710	BJ	skin:	n/a	chr11:65325583-65325596 chr11:65325583-65325596
40	POLR2A	chr11:65325538-65326266	MCF-7	breast:	n/a	n/a
41	TCF12	chr11:65325604-65328212	ECC-1	luminal epithelium:	n/a	chr11:65326414-65326424
42	UBTF	chr11:65325584-65326360	K562	blood:	n/a	n/a
43	POLR2A	chr11:65324407-65326431	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:65325566-65325973	ECC-1	luminal epithelium:	n/a	n/a
45	SP1	chr11:65325561-65327093	A549	lung:	n/a	chr11:65326658-65326672 chr11:65325872-65325886 chr11:65326114-65326126 chr11:65326116-65326125 chr11:65326106-65326120 chr11:65326111-65326120 chr11:65326116-65326125 chr11:65325789-65325803 chr11:65326020-65326029 chr11:65326115-65326124 chr11:65326662-65326671 chr11:65326109-65326121 chr11:65326111-65326120 chr11:65326662-65326672 chr11:65326110-65326119 chr11:65326106-65326115 chr11:65326109-65326121
46	HEY1	chr11:65325554-65325926	K562	blood:	n/a	chr11:65325857-65325872 chr11:65325846-65325861
47	POLR2A	chr11:65325461-65326608	K562	blood:	n/a	n/a
48	TAF1	chr11:65325542-65325990	A549	lung:	n/a	n/a
49	POLR2A	chr11:65325489-65326970	SK-N-MC	brain:	n/a	n/a
50	NFIC	chr11:65325486-65327200	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65325594-65325644	T-47D	breast:	n/a
2	chr11:65325594-65325644	AG10803	skin:	n/a
3	chr11:65325594-65325644	ProgFib	skin:	n/a
4	chr11:65325594-65325644	NHBE	bronchial:	n/a
5	chr11:65325594-65325644	PFSK-1	brain:	n/a
6	chr11:65325594-65325644	AG04450	lung:	fetal
7	chr11:65325594-65325644	H1-hESC	embryonic stem cell:	embryo
8	chr11:65325594-65325644	BE2_C	brain:	n/a
9	chr11:65325594-65325644	HCT-116	colon:	n/a
10	chr11:65325594-65325644	Caco-2	colon:	n/a
11	chr11:65325594-65325644	HNPCEpiC	eye:	n/a
12	chr11:65325594-65325644	AoSMC	blood vessel:	n/a
13	chr11:65325594-65325644	GM12892	blood:	n/a
14	chr11:65325594-65325644	HL-60	blood:	n/a
15	chr11:65325594-65325644	K562	blood:	n/a
16	chr11:65325594-65325644	AG04449	skin:	fetal
17	chr11:65325594-65325644	IMR90	lung:	fetal
18	chr11:65325594-65325644	HEK293	kidney:	embryo
19	chr11:65325594-65325644	HCM	heart:	n/a
20	chr11:65325594-65325644	SK-N-SH	brain:	n/a
21	chr11:65325594-65325644	Jurkat	blood:	n/a
22	chr11:65325594-65325644	HRPEpiC	eye:	n/a
23	chr11:65325594-65325644	PrEC	prostate:	n/a
24	chr11:65325594-65325644	GM19239	blood:	n/a
25	chr11:65325594-65325644	SK-N-SH_RA	brain:	n/a
26	chr11:65325594-65325644	AG09309	skin:	n/a
27	chr11:65325594-65325644	SKMC	muscle:	n/a
28	chr11:65325594-65325644	HMEC	breast:	n/a
29	chr11:65325594-65325644	NB4	blood:	n/a
30	chr11:65325594-65325644	MCF-7	breast:	n/a
31	chr11:65325594-65325644	A549	lung:	n/a
32	chr11:65325594-65325644	MCF10A-Er-Src	breast:	n/a
33	chr11:65325594-65325644	RPTEC	kidney:	n/a
34	chr11:65325594-65325644	BJ	skin:	n/a
35	chr11:65325594-65325644	NHDF-neo	bronchial:	n/a
36	chr11:65325594-65325644	AG09319	gingival:	n/a
37	chr11:65325594-65325644	GM12878	blood:	n/a
38	chr11:65325594-65325644	NH-A	brain:	n/a
39	chr11:65325594-65325644	CMK	blood:	n/a
40	chr11:65325594-65325644	SAEC	small airway:	n/a
41	chr11:65325594-65325644	U87	brain:	n/a
42	chr11:65325594-65325644	Hepatocyte	liver:	n/a
43	chr11:65325594-65325644	NT2-D1	testis:	n/a
44	chr11:65325594-65325644	HepG2	liver:	n/a
45	chr11:65325594-65325644	ECC-1	luminal epithelium:	n/a
46	chr11:65325594-65325644	PANC-1	pancreas:	n/a
47	chr11:65325594-65325644	HEEpiC	esophagus:	n/a
48	chr11:65325594-65325644	HCF	heart:	n/a
49	chr11:65325594-65325644	Hela-S3	cervix:	n/a
50	chr11:65325594-65325644	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
2	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
3	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
4	chr11:65264814..65267848-chr11:65324930..65327383,6	K562	blood:
5	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
6	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
7	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
8	chr11:65325555..65326071-chr11:65337401..65337974,2	K562	blood:
9	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
LTBP3	CpG island
ENSG00000245532	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000173465	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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	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
19	esv3358908	chr11:65324401-65327349	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65318600-65325800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65321200-65326200	Enhancers	Spleen	Spleen
3	chr11:65324200-65325800	Flanking Active TSS	Colonic Mucosa	Colon
4	chr11:65324400-65326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:65324400-65326200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:65324400-65326200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr11:65324400-65326200	Active TSS	NHLF	lung
8	chr11:65324400-65326400	Active TSS	Aorta	Aorta
9	chr11:65324400-65326400	Active TSS	Fetal Kidney	kidney
10	chr11:65324600-65325800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:65324600-65326400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:65324600-65326400	Active TSS	Ovary	ovary
13	chr11:65324800-65326000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr11:65324800-65326200	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr11:65324800-65326200	Active TSS	Brain Substantia Nigra	brain
16	chr11:65324800-65326200	Active TSS	Colon Smooth Muscle	Colon
17	chr11:65324800-65326200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:65324800-65326200	Active TSS	A549	lung
19	chr11:65324800-65326200	Active TSS	Osteobl	bone
20	chr11:65325000-65325800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:65325000-65325800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr11:65325000-65326000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:65325000-65326000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:65325000-65326000	Active TSS	HSMM	muscle
25	chr11:65325000-65326200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65325000-65326200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:65325000-65326200	Active TSS	Primary T cells from cord blood	blood
28	chr11:65325000-65326200	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:65325000-65326200	Active TSS	Brain Anterior Caudate	brain
30	chr11:65325000-65326200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:65325000-65326200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:65325000-65326200	Active TSS	Fetal Lung	lung
33	chr11:65325000-65326200	Active TSS	Left Ventricle	heart
34	chr11:65325000-65326200	Active TSS	Lung	lung
35	chr11:65325000-65326200	Active TSS	Psoas Muscle	Psoas
36	chr11:65325000-65326200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:65325000-65326200	Weak transcription	Stomach Mucosa	stomach
38	chr11:65325000-65326200	Active TSS	HSMMtube	muscle
39	chr11:65325000-65326400	Active TSS	Fetal Brain Female	brain
40	chr11:65325000-65326400	Active TSS	Small Intestine	intestine
41	chr11:65325000-65326400	Active TSS	HepG2	liver
42	chr11:65325000-65326600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:65325000-65326800	Enhancers	Primary B cells from cord blood	blood
44	chr11:65325000-65327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:65325200-65325800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:65325200-65325800	Active TSS	Thymus	Thymus
47	chr11:65325200-65326000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:65325200-65326000	Active TSS	Primary B cells from peripheral blood	blood
49	chr11:65325200-65326000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr11:65325200-65326000	Active TSS	Primary hematopoietic stem cells	blood

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