Variant report

Variant	rs566630151
Chromosome Location	chr11:45921846-45921847
allele	C/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	HEY1	chr11:45921631-45921899	K562	blood:	n/a	n/a
2	POLR2A	chr11:45921644-45921848	A549	lung:	n/a	n/a
3	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
4	TCF3	chr11:45921627-45921961	GM12878	blood:	n/a	n/a
5	GATA3	chr11:45921127-45921853	A549	lung:	n/a	n/a
6	REST	chr11:45920559-45921868	H1-neurons	neurons:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
7	POLR2A	chr11:45921418-45922167	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:45921653-45921975	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr11:45921344-45922001	HepG2	liver:	n/a	chr11:45921444-45921457
10	REST	chr11:45920483-45921862	PFSK-1	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
11	POLR2A	chr11:45921659-45921867	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr11:45921766-45921879	GM20000	blood:	n/a	n/a
13	HMGN3	chr11:45920850-45922250	K562	blood:	n/a	n/a
14	CTCF	chr11:45921777-45921957	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45868921..45870450-chr11:45919310..45922192,2	K562	blood:
2	chr11:45897697..45900039-chr11:45919922..45922515,2	K562	blood:
3	chr11:45898608..45900937-chr11:45921279..45922958,2	MCF-7	breast:
4	chr1:198127987..198130106-chr11:45920994..45922551,2	MCF-7	breast:
5	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
6	chr11:45921817..45923409-chr11:45925394..45927956,2	K562	blood:
7	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
8	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
9	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121680	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3344990	chr11:45920601-45923149	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45920800-45922800	Enhancers	Liver	Liver
2	chr11:45921000-45922000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:45921000-45922000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45921000-45922000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:45921000-45922000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:45921000-45922000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:45921000-45922000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:45921000-45922000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:45921000-45922000	Active TSS	Stomach Smooth Muscle	stomach
10	chr11:45921000-45922200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:45921000-45922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:45921000-45922200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:45921000-45922200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:45921000-45922200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:45921000-45922200	Active TSS	Aorta	Aorta
16	chr11:45921000-45922400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:45921000-45922400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:45921000-45922600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:45921000-45922600	Active TSS	Fetal Kidney	kidney
20	chr11:45921000-45922600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr11:45921000-45923000	Active TSS	Brain Angular Gyrus	brain
22	chr11:45921000-45923000	Active TSS	Brain Substantia Nigra	brain
23	chr11:45921000-45923200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:45921200-45922000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:45921200-45922000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:45921200-45922000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:45921200-45922000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:45921200-45922000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:45921200-45922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:45921200-45922000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:45921200-45922000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:45921200-45922000	Active TSS	Brain Germinal Matrix	brain
33	chr11:45921200-45922000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:45921200-45922000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr11:45921200-45922000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr11:45921200-45922000	Active TSS	Fetal Lung	lung
37	chr11:45921200-45922000	Active TSS	Gastric	stomach
38	chr11:45921200-45922000	Active TSS	Left Ventricle	heart
39	chr11:45921200-45922000	Active TSS	Lung	lung
40	chr11:45921200-45922000	Active TSS	Pancreas	Pancrea
41	chr11:45921200-45922000	Active TSS	Right Atrium	heart
42	chr11:45921200-45922000	Active TSS	Right Ventricle	heart
43	chr11:45921200-45922000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:45921200-45922000	Active TSS	HMEC	breast
45	chr11:45921200-45922000	Active TSS	HUVEC	blood vessel
46	chr11:45921200-45922000	Active TSS	K562	blood
47	chr11:45921200-45922000	Active TSS	NH-A	brain
48	chr11:45921200-45922000	Bivalent Enhancer	NHEK	skin
49	chr11:45921200-45922000	Active TSS	Osteobl	bone
50	chr11:45921200-45922200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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