Variant report

Variant	rs566951383
Chromosome Location	chr11:119599530-119599531
allele	A/C
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	chr11:119599313-119600284	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr11:119599396-119600501	A549	lung:	n/a	n/a
3	POLR2A	chr11:119599496-119601082	MCF-7	breast:	n/a	n/a
4	RCOR1	chr11:119599410-119600576	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:119599477-119601050	GM18951	blood:	n/a	n/a
6	BHLHE40	chr11:119599364-119600490	GM12878	blood:	n/a	chr11:119600069-119600085 chr11:119599385-119599401 chr11:119599847-119599863
7	UBTF	chr11:119599494-119600453	K562	blood:	n/a	n/a
8	MAX	chr11:119598856-119600380	NB4	blood:	n/a	n/a
9	MAX	chr11:119599438-119600466	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr11:119599432-119599550	K562	blood:	n/a	n/a
11	POLR2A	chr11:119598115-119600381	H1-neurons	neurons:	n/a	n/a
12	CREB1	chr11:119599408-119600447	HepG2	liver:	n/a	n/a
13	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
14	YY1	chr11:119599487-119600373	GM12892	blood:	n/a	chr11:119599788-119599802 chr11:119599567-119599578
15	CTCF	chr11:119599421-119601485	SK-N-SH	brain:	n/a	chr11:119600191-119600207 chr11:119600185-119600206 chr11:119600881-119600890
16	ZBTB7A	chr11:119598965-119600670	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr11:119599384-119600413	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3AK20	chr11:119599370-119600301	PANC-1	pancreas:	n/a	n/a
19	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
20	YY1	chr11:119599529-119600363	GM12878	blood:	n/a	chr11:119599788-119599802 chr11:119599567-119599578
21	ELF1	chr11:119599452-119601161	GM12878	blood:	n/a	chr11:119600483-119600495 chr11:119599527-119599539
22	POLR2A	chr11:119599368-119601097	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:119599428-119600281	HUVEC	blood vessel:	n/a	n/a
24	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
25	MXI1	chr11:119598899-119601038	IMR90	lung:	n/a	n/a
26	MAX	chr11:119599323-119600411	SK-N-SH	brain:	n/a	n/a
27	ZBTB7A	chr11:119598950-119599707	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:119599410-119600562	H1-neurons	neurons:	n/a	n/a
29	RAD21	chr11:119597368-119601907	SK-N-SH	brain:	n/a	chr11:119599960-119599970 chr11:119600188-119600207
30	YY1	chr11:119599371-119600387	HepG2	liver:	n/a	chr11:119599788-119599802 chr11:119599567-119599578
31	POLR2A	chr11:119599522-119600281	NB4	blood:	n/a	n/a
32	SIN3AK20	chr11:119599384-119599677	H1-hESC	embryonic stem cell:	n/a	n/a
33	SMC3	chr11:119597227-119601922	SK-N-SH	brain:	n/a	chr11:119598367-119598374 chr11:119599984-119599994 chr11:119600192-119600206
34	MAX	chr11:119599355-119600440	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:119599488-119600439	GM15510	blood:	n/a	n/a
36	HA-E2F1	chr11:119599419-119600190	Hela-S3	cervix:	n/a	chr11:119599529-119599539 chr11:119599836-119599846 chr11:119600033-119600042 chr11:119599839-119599849
37	MAZ	chr11:119599484-119601089	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:119599401-119601251	MCF-7	breast:	n/a	n/a
39	YY1	chr11:119599483-119600102	ECC-1	luminal epithelium:	n/a	chr11:119599788-119599802 chr11:119599567-119599578
40	POLR2A	chr11:119599451-119600286	HUVEC	blood vessel:	n/a	n/a
41	MXI1	chr11:119597959-119601111	GM12878	blood:	n/a	n/a
42	CHD1	chr11:119599403-119601462	IMR90	lung:	n/a	chr11:119599801-119599811 chr11:119599940-119599950
43	MXI1	chr11:119597064-119601983	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr11:119599521-119600101	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:119599470-119600379	GM18526	blood:	n/a	n/a
46	TAF1	chr11:119599420-119599627	SK-N-SH	brain:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000254854	TF binding region
PVRL1	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119596600-119600400	Active TSS	Esophagus	oesophagus
2	chr11:119597200-119599600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:119597200-119600400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:119597200-119600400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:119597200-119600400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:119597200-119600800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:119597200-119601000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:119597200-119601000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:119597400-119600600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:119597400-119600800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:119597400-119601000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:119597400-119601000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:119597600-119601000	Active TSS	Fetal Kidney	kidney
14	chr11:119597800-119600400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:119597800-119600400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:119597800-119600400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:119597800-119600400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:119597800-119600400	Active TSS	HMEC	breast
19	chr11:119597800-119600400	Active TSS	NHEK	skin
20	chr11:119597800-119600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:119597800-119600800	Active TSS	Fetal Brain Female	brain
22	chr11:119597800-119601000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:119597800-119601000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:119598000-119599800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:119598000-119600400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:119598000-119600400	Active TSS	Brain Anterior Caudate	brain
27	chr11:119598000-119600400	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:119598000-119600400	Active TSS	Fetal Intestine Small	intestine
29	chr11:119598000-119600600	Active TSS	Small Intestine	intestine
30	chr11:119598000-119600600	Active TSS	HSMMtube	muscle
31	chr11:119598000-119600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:119598000-119600800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:119598000-119600800	Active TSS	A549	lung
34	chr11:119598000-119600800	Active TSS	Hela-S3	cervix
35	chr11:119598000-119601200	Active TSS	Right Atrium	heart
36	chr11:119598200-119600200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:119598200-119600400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:119598200-119600400	Active TSS	Pancreas	Pancrea
39	chr11:119598200-119600600	Active TSS	Gastric	stomach
40	chr11:119598200-119600800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:119598200-119600800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:119598200-119600800	Active TSS	Brain Substantia Nigra	brain
43	chr11:119598200-119601000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:119598200-119601000	Active TSS	Aorta	Aorta
45	chr11:119598400-119600200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:119598400-119600400	Active TSS	HepG2	liver
47	chr11:119598400-119600400	Active TSS	HSMM	muscle
48	chr11:119598400-119600600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr11:119598400-119600800	Active TSS	Brain Angular Gyrus	brain
50	chr11:119598400-119601000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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