Variant report

Variant	rs570809348
Chromosome Location	chr11:45201571-45201572
allele	A/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	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
3	ESR1	chr11:45201426-45202239	ECC-1	luminal epithelium:	n/a	n/a
4	TCF7L2	chr11:45201567-45202918	HCT-116	colon:	n/a	n/a
5	TCF7L2	chr11:45201561-45201985	PANC-1	pancreas:	n/a	n/a
6	RFX5	chr11:45201310-45202123	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:45201520-45201670	GM12864	blood:	n/a	n/a
8	ESR1	chr11:45201531-45202001	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr11:45201560-45201710	HCM	heart:	n/a	n/a
10	POLR2A	chr11:45201346-45202987	PBDE	blood:	n/a	n/a
11	ESR1	chr11:45201508-45202246	ECC-1	luminal epithelium:	n/a	n/a
12	ZBTB7A	chr11:45201247-45203155	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
13	CTCF	chr11:45200973-45202208	A549	lung:	n/a	n/a
14	ZBTB7A	chr11:45201489-45203332	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
15	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
16	NFIC	chr11:45201448-45202774	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr11:45201322-45202864	ECC-1	luminal epithelium:	n/a	chr11:45202481-45202490 chr11:45202467-45202483 chr11:45202479-45202488
18	TCF12	chr11:45201361-45202942	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
19	YY1	chr11:45201520-45202350	ECC-1	luminal epithelium:	n/a	n/a
20	TEAD4	chr11:45201456-45202826	ECC-1	luminal epithelium:	n/a	n/a
21	ZNF143	chr11:45201537-45202833	Hela-S3	cervix:	n/a	chr11:45202480-45202490 chr11:45202119-45202137 chr11:45202787-45202797
22	MAX	chr11:45201530-45202884	ECC-1	luminal epithelium:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
23	HCFC1	chr11:45200158-45203524	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:45201540-45201690	GM06990	blood:	n/a	n/a
25	POLR2A	chr11:45201075-45203095	Hela-S3	cervix:	n/a	n/a
26	NR2F2	chr11:45201445-45202370	MCF-7	breast:	n/a	n/a
27	MAX	chr11:45201447-45202996	HCT-116	colon:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
28	TFAP2C	chr11:45200721-45203126	Hela-S3	cervix:	n/a	chr11:45202162-45202177 chr11:45202607-45202622
29	CHD2	chr11:45201551-45203001	Hela-S3	cervix:	n/a	n/a
30	SMARCB1	chr11:45201442-45203625	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:45200943-45202272	SK-N-SH	brain:	n/a	n/a
32	EP300	chr11:45201427-45202314	ECC-1	luminal epithelium:	n/a	n/a
33	MAFK	chr11:45201431-45202127	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr11:45200459-45203366	IMR90	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
35	SMARCC1	chr11:45201142-45202085	Hela-S3	cervix:	n/a	n/a
36	MAX	chr11:45201516-45202930	ECC-1	luminal epithelium:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
37	MYC	chr11:45201528-45202738	NB4	blood:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
38	ESR1	chr11:45201516-45202204	ECC-1	luminal epithelium:	n/a	n/a
39	NFIC	chr11:45201450-45202922	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr11:45201460-45201610	AG04450	lung:	n/a	n/a
41	SMC3	chr11:45200990-45202134	Hela-S3	cervix:	n/a	chr11:45201823-45201833
42	GTF2F1	chr11:45201320-45201914	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr11:45201136-45202868	Hela-S3	cervix:	n/a	n/a
44	ESR1	chr11:45201517-45202217	ECC-1	luminal epithelium:	n/a	n/a
45	BRCA1	chr11:45201395-45201991	Hela-S3	cervix:	n/a	n/a
46	MAX	chr11:45201135-45202984	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
47	TCF12	chr11:45201265-45202877	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
48	MAX	chr11:45201374-45202991	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
49	TCF7L2	chr11:45201243-45201994	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr11:45201527-45202805	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
3	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
4	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
5	chr11:45201395..45201910-chr11:45314825..45315380,2	MCF-7	breast:
6	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
7	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
8	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
9	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
10	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
11	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
12	chr11:45201399..45202014-chr19:13949551..13950439,2	Hela-S3	cervix:
13	chr11:45168123..45168914-chr11:45201466..45202278,2	MCF-7	breast:
14	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
15	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:
16	chr1:45186974..45187599-chr11:45201244..45201899,2	Hela-S3	cervix:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000199377	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000254664	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3406728	chr11:45201001-45203549	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3326620	chr11:45201401-45203949	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45200400-45201600	Enhancers	Left Ventricle	heart
2	chr11:45200400-45201600	Enhancers	Right Atrium	heart
3	chr11:45200400-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:45200600-45201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:45200600-45201800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:45200800-45201600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr11:45200800-45201600	Enhancers	Fetal Stomach	stomach
8	chr11:45200800-45201600	Enhancers	Pancreas	Pancrea
9	chr11:45200800-45201600	Enhancers	Small Intestine	intestine
10	chr11:45200800-45201800	Enhancers	HMEC	breast
11	chr11:45201000-45201600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:45201000-45201600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:45201000-45201600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:45201000-45201600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:45201000-45201600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:45201000-45201600	Enhancers	Esophagus	oesophagus
17	chr11:45201000-45201600	Enhancers	Lung	lung
18	chr11:45201000-45201600	Bivalent Enhancer	GM12878-XiMat	blood
19	chr11:45201000-45201600	Enhancers	HSMMtube	muscle
20	chr11:45201000-45201600	Enhancers	HUVEC	blood vessel
21	chr11:45201000-45201800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr11:45201000-45201800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:45201000-45201800	Flanking Active TSS	Hela-S3	cervix
24	chr11:45201000-45201800	Flanking Active TSS	NHEK	skin
25	chr11:45201000-45202000	Enhancers	K562	blood
26	chr11:45201000-45202400	Enhancers	Placenta	Placenta
27	chr11:45201000-45202400	Enhancers	NHLF	lung
28	chr11:45201200-45201600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:45201200-45201600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:45201200-45201600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:45201200-45201600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:45201200-45201600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr11:45201200-45201600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:45201200-45201600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:45201200-45201600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:45201200-45201600	Enhancers	Liver	Liver
37	chr11:45201200-45201600	Enhancers	Brain Substantia Nigra	brain
38	chr11:45201200-45201600	Enhancers	Gastric	stomach
39	chr11:45201200-45201600	Enhancers	Ovary	ovary
40	chr11:45201200-45201600	Enhancers	Psoas Muscle	Psoas
41	chr11:45201200-45201600	Enhancers	Spleen	Spleen
42	chr11:45201200-45201800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr11:45201200-45201800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr11:45201200-45201800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:45201200-45201800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:45201200-45201800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:45201200-45201800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:45201200-45201800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:45201200-45201800	Flanking Active TSS	Fetal Heart	heart
50	chr11:45201200-45201800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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