Variant report

Variant	rs530446715
Chromosome Location	chr11:45921128-45921129
allele	A/G
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	chr11:45920935-45921715	K562	blood:	n/a	chr11:45921356-45921365
2	REST	chr11:45920711-45921282	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
3	JUND	chr11:45920950-45921752	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr11:45920314-45921824	SK-N-SH	brain:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
5	REST	chr11:45920690-45921645	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
6	GTF2F1	chr11:45920941-45921433	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:45920980-45921130	SAEC	small airway:	n/a	n/a
8	SP1	chr11:45921100-45921778	A549	lung:	n/a	chr11:45921189-45921203 chr11:45921188-45921200 chr11:45921189-45921199 chr11:45921189-45921198 chr11:45921299-45921313 chr11:45921188-45921200 chr11:45921190-45921199
9	REST	chr11:45920715-45921275	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
10	CREB1	chr11:45920896-45921786	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr11:45920310-45921806	IMR90	lung:	n/a	chr11:45921356-45921365
12	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
13	ZBTB7A	chr11:45921037-45921622	K562	blood:	n/a	chr11:45921340-45921351
14	MYC	chr11:45920922-45921628	K562	blood:	n/a	chr11:45921356-45921365
15	MXI1	chr11:45920877-45921603	GM12878	blood:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
16	ZNF143	chr11:45920861-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr11:45920533-45921627	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
18	ZBTB7A	chr11:45920884-45921285	K562	blood:	n/a	n/a
19	ZNF143	chr11:45920879-45921184	K562	blood:	n/a	n/a
20	REST	chr11:45920629-45921752	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
21	MXI1	chr11:45920905-45921648	HepG2	liver:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
22	REST	chr11:45920694-45921771	SK-N-SH	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
23	REST	chr11:45920483-45921573	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
24	MAZ	chr11:45920894-45921770	K562	blood:	n/a	chr11:45921356-45921365
25	REST	chr11:45920763-45921633	K562	blood:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
26	CHD1	chr11:45920829-45921818	IMR90	lung:	n/a	chr11:45921183-45921193
27	FOXP2	chr11:45920874-45921194	SK-N-MC	brain:	n/a	n/a
28	SIN3AK20	chr11:45920808-45921654	H1-hESC	embryonic stem cell:	n/a	n/a
29	BHLHE40	chr11:45921011-45921713	K562	blood:	n/a	n/a
30	REST	chr11:45920737-45921442	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
31	ATF3	chr11:45921125-45921680	K562	blood:	n/a	chr11:45921401-45921414
32	JUN	chr11:45921001-45921590	H1-hESC	embryonic stem cell:	n/a	chr11:45921399-45921412
33	REST	chr11:45920646-45921632	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
34	ATF2	chr11:45920751-45921633	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr11:45920812-45921780	H1-hESC	embryonic stem cell:	n/a	chr11:45921356-45921365
36	ELK1	chr11:45921101-45921241	K562	blood:	n/a	n/a
37	REST	chr11:45920521-45921327	HCT-116	colon:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
38	MAX	chr11:45920860-45921745	MCF-7	breast:	n/a	chr11:45921356-45921365
39	MAX	chr11:45920890-45921776	K562	blood:	n/a	chr11:45921356-45921365
40	REST	chr11:45920879-45921185	SK-N-SH	brain:	n/a	chr11:45921129-45921142
41	GATA3	chr11:45921127-45921853	A549	lung:	n/a	n/a
42	REST	chr11:45920781-45921284	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921129-45921142
43	REST	chr11:45920559-45921868	H1-neurons	neurons:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
44	SIN3AK20	chr11:45920878-45921196	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr11:45920897-45921768	K562	blood:	n/a	n/a
46	CEBPB	chr11:45921058-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr11:45920898-45921565	H1-hESC	embryonic stem cell:	n/a	chr11:45921183-45921193
48	SIN3AK20	chr11:45920902-45921279	K562	blood:	n/a	n/a
49	REST	chr11:45919930-45921783	PFSK-1	brain:	n/a	chr11:45920383-45920393 chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
50	RCOR1	chr11:45920884-45921590	K562	blood:	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	chr1:198127987..198130106-chr11:45920994..45922551,2	MCF-7	breast:
4	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
5	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
6	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
7	chr11:45919268..45921220-chr11:46000248..46001826,2	MCF-7	breast:
8	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45920200-45921200	Enhancers	Fetal Brain Male	brain
2	chr11:45920400-45921200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:45920600-45921200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45920600-45921200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:45920600-45921200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:45920600-45921200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:45920600-45921200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr11:45920600-45921200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:45920600-45921200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr11:45920600-45921200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:45920600-45921200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr11:45920600-45921200	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr11:45920600-45921400	Bivalent Enhancer	Fetal Thymus	thymus
14	chr11:45920800-45921200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:45920800-45921200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
17	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
19	chr11:45920800-45921200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr11:45920800-45921200	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr11:45920800-45921200	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr11:45920800-45921200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr11:45920800-45921200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:45920800-45921200	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr11:45920800-45921200	Flanking Active TSS	Fetal Brain Female	brain
27	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr11:45920800-45921200	Flanking Active TSS	Lung	lung
29	chr11:45920800-45921200	Bivalent Enhancer	Psoas Muscle	Psoas
30	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
31	chr11:45920800-45921200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr11:45920800-45921200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr11:45920800-45921200	Flanking Active TSS	A549	lung
34	chr11:45920800-45921200	Flanking Active TSS	HSMM	muscle
35	chr11:45920800-45921400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:45920800-45921400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:45920800-45921400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:45920800-45921400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr11:45920800-45921400	Flanking Active TSS	Hela-S3	cervix
42	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:45920800-45921600	Enhancers	Fetal Heart	heart
45	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr11:45920800-45922800	Enhancers	Liver	Liver
48	chr11:45921000-45921200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:45921000-45921200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:45921000-45921200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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