Variant report

Variant	rs577197872
Chromosome Location	chr11:119599063-119599064
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	SMC3	chr11:119598712-119599080	GM12878	blood:	n/a	n/a
2	TBP	chr11:119598933-119599108	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:119598856-119600380	NB4	blood:	n/a	n/a
4	POLR2A	chr11:119598115-119600381	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:119598978-119599110	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:119598418-119599330	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:119598105-119599239	H1-neurons	neurons:	n/a	n/a
8	EBF1	chr11:119598915-119599162	GM12878	blood:	n/a	n/a
9	SIN3A	chr11:119597072-119600964	H1-hESC	embryonic stem cell:	n/a	chr11:119598510-119598523 chr11:119597118-119597129 chr11:119599794-119599805 chr11:119599846-119599857 chr11:119599845-119599858
10	ZBTB7A	chr11:119598965-119600670	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr11:119599040-119599190	GM12870	blood:	n/a	n/a
12	CHD1	chr11:119598392-119599326	GM12878	blood:	n/a	n/a
13	REST	chr11:119597919-119600693	H1-neurons	neurons:	n/a	chr11:119599848-119599861 chr11:119599304-119599317 chr11:119598617-119598630 chr11:119599848-119599861 chr11:119599845-119599858 chr11:119600480-119600493 chr11:119600483-119600496 chr11:119599290-119599303 chr11:119598510-119598523 chr11:119599302-119599320 chr11:119599040-119599053
14	MAZ	chr11:119597671-119601057	IMR90	lung:	n/a	chr11:119598584-119598594 chr11:119598070-119598085 chr11:119598072-119598087 chr11:119598074-119598083 chr11:119598074-119598083 chr11:119598072-119598085 chr11:119598073-119598082 chr11:119598073-119598083 chr11:119598075-119598082 chr11:119598074-119598084 chr11:119598073-119598084 chr11:119598073-119598083 chr11:119598072-119598085 chr11:119598073-119598084 chr11:119598072-119598085
15	MXI1	chr11:119598899-119601038	IMR90	lung:	n/a	n/a
16	SIN3AK20	chr11:119598802-119599224	H1-hESC	embryonic stem cell:	n/a	n/a
17	RUNX3	chr11:119598874-119599326	GM12878	blood:	n/a	n/a
18	ZBTB7A	chr11:119598950-119599707	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr11:119597368-119601907	SK-N-SH	brain:	n/a	chr11:119599960-119599970 chr11:119600188-119600207
20	NRF1	chr11:119599018-119599212	GM12878	blood:	n/a	n/a
21	SMC3	chr11:119597227-119601922	SK-N-SH	brain:	n/a	chr11:119598367-119598374 chr11:119599984-119599994 chr11:119600192-119600206
22	CHD1	chr11:119598747-119599215	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMC3	chr11:119599055-119599129	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr11:119598423-119599080	GM12878	blood:	n/a	n/a
25	MAZ	chr11:119598061-119599260	GM12878	blood:	n/a	chr11:119598584-119598594 chr11:119598070-119598085 chr11:119598072-119598087 chr11:119598074-119598083 chr11:119598074-119598083 chr11:119598072-119598085 chr11:119598073-119598082 chr11:119598073-119598083 chr11:119598075-119598082 chr11:119598074-119598084 chr11:119598073-119598084 chr11:119598073-119598083 chr11:119598072-119598085 chr11:119598073-119598084 chr11:119598072-119598085
26	ZEB1	chr11:119598932-119599216	GM12878	blood:	n/a	n/a
27	CTCF	chr11:119598980-119599130	GM12878	blood:	n/a	n/a
28	MXI1	chr11:119597959-119601111	GM12878	blood:	n/a	n/a
29	MXI1	chr11:119597064-119601983	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119557449..119558968-chr11:119599043..119600568,2	MCF-7	breast:
2	chr11:119537222..119537812-chr11:119598187..119599149,2	MCF-7	breast:
3	chr11:119598280..119601010-chr11:119990751..119994590,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254854	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3364090	chr11:119598267-119601315	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr11:119596600-119600400	Active TSS	Esophagus	oesophagus
2	chr11:119597000-119599200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:119597000-119599200	Flanking Active TSS	GM12878-XiMat	blood
4	chr11:119597200-119599200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:119597200-119599200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:119597200-119599200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr11:119597200-119599600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:119597200-119600400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:119597200-119600400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:119597200-119600400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:119597200-119600800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:119597200-119601000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:119597200-119601000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:119597400-119599200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:119597400-119600600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:119597400-119600800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:119597400-119601000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:119597400-119601000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:119597600-119599200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:119597600-119599400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:119597600-119599400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:119597600-119599400	Flanking Active TSS	Colonic Mucosa	Colon
23	chr11:119597600-119601000	Active TSS	Fetal Kidney	kidney
24	chr11:119597800-119599400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:119597800-119600400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:119597800-119600400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:119597800-119600400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:119597800-119600400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:119597800-119600400	Active TSS	HMEC	breast
30	chr11:119597800-119600400	Active TSS	NHEK	skin
31	chr11:119597800-119600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119597800-119600800	Active TSS	Fetal Brain Female	brain
33	chr11:119597800-119601000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:119597800-119601000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:119598000-119599200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:119598000-119599200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr11:119598000-119599400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr11:119598000-119599800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:119598000-119600400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:119598000-119600400	Active TSS	Brain Anterior Caudate	brain
41	chr11:119598000-119600400	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:119598000-119600400	Active TSS	Fetal Intestine Small	intestine
43	chr11:119598000-119600600	Active TSS	Small Intestine	intestine
44	chr11:119598000-119600600	Active TSS	HSMMtube	muscle
45	chr11:119598000-119600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:119598000-119600800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:119598000-119600800	Active TSS	A549	lung
48	chr11:119598000-119600800	Active TSS	Hela-S3	cervix
49	chr11:119598000-119601200	Active TSS	Right Atrium	heart
50	chr11:119598200-119599200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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