Variant report

Variant	rs568308900
Chromosome Location	chr11:65325554-65325555
allele	G/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	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	ZBTB7A	chr11:65324988-65326730	K562	blood:	n/a	chr11:65325577-65325585
6	TCF12	chr11:65325547-65328080	ECC-1	luminal epithelium:	n/a	chr11:65326414-65326424
7	MAX	chr11:65325486-65326345	MCF-7	breast:	n/a	chr11:65325980-65325990
8	POLR2A	chr11:65325516-65327323	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr11:65325512-65326362	K562	blood:	n/a	n/a
10	POLR2A	chr11:65325311-65326150	PFSK-1	brain:	n/a	n/a
11	REST	chr11:65325512-65325946	SK-N-SH	brain:	n/a	chr11:65325888-65325901
12	CBX3	chr11:65325540-65325960	K562	blood:	n/a	n/a
13	POLR2A	chr11:65325473-65327027	HUVEC	blood vessel:	n/a	n/a
14	HCFC1	chr11:65325379-65326730	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:65325248-65326003	HCT-116	colon:	n/a	n/a
16	ZBTB7A	chr11:65325554-65328426	ECC-1	luminal epithelium:	n/a	chr11:65325577-65325585 chr11:65327180-65327191
17	POLR2A	chr11:65325254-65326727	HUVEC	blood vessel:	n/a	n/a
18	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
19	POLR2A	chr11:65325540-65328890	U87	brain:	n/a	n/a
20	POLR2A	chr11:65325511-65326039	PFSK-1	brain:	n/a	n/a
21	HEY1	chr11:65325544-65325892	HepG2	liver:	n/a	chr11:65325857-65325872 chr11:65325846-65325861
22	POLR2A	chr11:65325493-65326019	U87	brain:	n/a	n/a
23	SIN3AK20	chr11:65325530-65325984	PANC-1	pancreas:	n/a	n/a
24	TEAD4	chr11:65325509-65326351	SK-N-SH	brain:	n/a	n/a
25	NFIC	chr11:65325551-65328314	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:65325538-65326266	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:65324407-65326431	HepG2	liver:	n/a	n/a
28	HEY1	chr11:65325554-65325926	K562	blood:	n/a	chr11:65325857-65325872 chr11:65325846-65325861
29	POLR2A	chr11:65325461-65326608	K562	blood:	n/a	n/a
30	TAF1	chr11:65325542-65325990	A549	lung:	n/a	n/a
31	POLR2A	chr11:65325489-65326970	SK-N-MC	brain:	n/a	n/a
32	NFIC	chr11:65325486-65327200	SK-N-SH	brain:	n/a	n/a
33	MAX	chr11:65325468-65326387	ECC-1	luminal epithelium:	n/a	chr11:65325980-65325990
34	TAF1	chr11:65325533-65327124	ECC-1	luminal epithelium:	n/a	n/a
35	FOXP2	chr11:65325546-65325990	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr11:65325518-65325904	A549	lung:	n/a	n/a
37	MAX	chr11:65325449-65328939	A549	lung:	n/a	chr11:65326583-65326593 chr11:65327802-65327812 chr11:65325980-65325990
38	MAX	chr11:65325547-65326298	A549	lung:	n/a	chr11:65325980-65325990
39	MAX	chr11:65325498-65326310	K562	blood:	n/a	chr11:65325980-65325990
40	SIN3AK20	chr11:65325529-65326036	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr11:65325545-65326334	K562	blood:	n/a	n/a
42	POLR2A	chr11:65325498-65326346	K562	blood:	n/a	n/a
43	POLR2A	chr11:65325542-65325885	A549	lung:	n/a	n/a
44	ZBTB7A	chr11:65325531-65327293	ECC-1	luminal epithelium:	n/a	chr11:65325577-65325585 chr11:65327180-65327191
45	POLR2A	chr11:65325498-65325973	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:65325540-65328946	U87	brain:	n/a	n/a
47	POLR2A	chr11:65325529-65328597	HCT-116	colon:	n/a	n/a
48	MAZ	chr11:65323932-65326942	IMR90	lung:	n/a	chr11:65326583-65326593 chr11:65325980-65325990
49	RXRA	chr11:65325483-65326180	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr11:65325508-65328755	A549	lung:	n/a	chr11:65326414-65326424

No.	Distal block	Cell Line	Cell type
1	chr11:65322830..65325559-chr11:65385179..65389892,4	K562	blood:
2	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
3	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
4	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
5	chr11:65264814..65267848-chr11:65324930..65327383,6	K562	blood:
6	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
7	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
8	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
9	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
ENSG00000266041	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	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:124 , 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	chr11:65324400-65325600	Active TSS	Right Atrium	heart
5	chr11:65324400-65326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:65324400-65326200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:65324400-65326200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr11:65324400-65326200	Active TSS	NHLF	lung
9	chr11:65324400-65326400	Active TSS	Aorta	Aorta
10	chr11:65324400-65326400	Active TSS	Fetal Kidney	kidney
11	chr11:65324600-65325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:65324600-65325800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:65324600-65326400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:65324600-65326400	Active TSS	Ovary	ovary
15	chr11:65324800-65326000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr11:65324800-65326200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:65324800-65326200	Active TSS	Brain Substantia Nigra	brain
18	chr11:65324800-65326200	Active TSS	Colon Smooth Muscle	Colon
19	chr11:65324800-65326200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:65324800-65326200	Active TSS	A549	lung
21	chr11:65324800-65326200	Active TSS	Osteobl	bone
22	chr11:65325000-65325800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:65325000-65325800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr11:65325000-65326000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65325000-65326000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:65325000-65326000	Active TSS	HSMM	muscle
27	chr11:65325000-65326200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65325000-65326200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:65325000-65326200	Active TSS	Primary T cells from cord blood	blood
30	chr11:65325000-65326200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:65325000-65326200	Active TSS	Brain Anterior Caudate	brain
32	chr11:65325000-65326200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:65325000-65326200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:65325000-65326200	Active TSS	Fetal Lung	lung
35	chr11:65325000-65326200	Active TSS	Left Ventricle	heart
36	chr11:65325000-65326200	Active TSS	Lung	lung
37	chr11:65325000-65326200	Active TSS	Psoas Muscle	Psoas
38	chr11:65325000-65326200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:65325000-65326200	Weak transcription	Stomach Mucosa	stomach
40	chr11:65325000-65326200	Active TSS	HSMMtube	muscle
41	chr11:65325000-65326400	Active TSS	Fetal Brain Female	brain
42	chr11:65325000-65326400	Active TSS	Small Intestine	intestine
43	chr11:65325000-65326400	Active TSS	HepG2	liver
44	chr11:65325000-65326600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:65325000-65326800	Enhancers	Primary B cells from cord blood	blood
46	chr11:65325000-65327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:65325200-65325600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:65325200-65325600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:65325200-65325600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:65325200-65325600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links