Variant report

Variant	rs539017408
Chromosome Location	chr11:46141450-46141451
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	RELA	chr11:46141446-46141817	GM10847	blood:	n/a	chr11:46141628-46141637 chr11:46141628-46141637
2	UBTF	chr11:46140746-46141721	K562	blood:	n/a	n/a
3	RELA	chr11:46140961-46141855	GM12891	blood:	n/a	chr11:46141628-46141637 chr11:46141628-46141637
4	POLR2A	chr11:46140787-46141458	SK-N-MC	brain:	n/a	n/a
5	CEBPB	chr11:46140331-46141693	Hela-S3	cervix:	n/a	chr11:46141016-46141027 chr11:46141016-46141029
6	MYC	chr11:46140869-46141600	K562	blood:	n/a	n/a
7	MXI1	chr11:46139355-46144956	SK-N-SH	brain:	n/a	n/a
8	JUND	chr11:46140925-46141730	K562	blood:	n/a	n/a
9	ZNF384	chr11:46140431-46141860	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr11:46140796-46141481	H1-hESC	embryonic stem cell:	n/a	n/a
11	HEY1	chr11:46140623-46141788	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:46141030-46141828	K562	blood:	n/a	n/a
13	POLR2A	chr11:46140809-46141850	GM12891	blood:	n/a	n/a
14	CHD2	chr11:46140876-46141583	HepG2	liver:	n/a	n/a
15	EGR1	chr11:46141230-46141775	K562	blood:	n/a	chr11:46141449-46141463
16	JUND	chr11:46141251-46141653	A549	lung:	n/a	n/a
17	MTA3	chr11:46140730-46141569	GM12878	blood:	n/a	n/a
18	RCOR1	chr11:46140745-46141773	K562	blood:	n/a	n/a
19	MXI1	chr11:46140745-46141480	HepG2	liver:	n/a	n/a
20	SIN3A	chr11:46140935-46141790	GM12878	blood:	n/a	n/a
21	EP300	chr11:46140973-46141804	GM12878	blood:	n/a	chr11:46141299-46141313
22	SIN3A	chr11:46140737-46141791	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:46140719-46141487	HepG2	liver:	n/a	n/a
24	HMGN3	chr11:46140966-46141691	K562	blood:	n/a	n/a
25	HCFC1	chr11:46140875-46141630	K562	blood:	n/a	n/a
26	POLR2A	chr11:46140922-46141784	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr11:46141074-46141594	PANC-1	pancreas:	n/a	n/a
28	EP300	chr11:46141331-46141767	GM12878	blood:	n/a	n/a
29	EGR1	chr11:46141219-46141619	H1-hESC	embryonic stem cell:	n/a	chr11:46141449-46141463
30	ZBTB7A	chr11:46141193-46141752	K562	blood:	n/a	n/a
31	MAZ	chr11:46140638-46144398	IMR90	lung:	n/a	chr11:46143904-46143914 chr11:46140676-46140685
32	CEBPB	chr11:46140751-46141502	A549	lung:	n/a	chr11:46141016-46141027 chr11:46141016-46141029
33	POLR2A	chr11:46140856-46141769	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr11:46140937-46141471	Hela-S3	cervix:	n/a	n/a
35	NR3C1	chr11:46141241-46141694	A549	lung:	n/a	n/a
36	EP300	chr11:46141198-46141740	GM12878	blood:	n/a	chr11:46141299-46141313
37	POLR2A	chr11:46140739-46144176	Raji	blood:	n/a	n/a
38	TEAD4	chr11:46140616-46141468	K562	blood:	n/a	n/a
39	CCNT2	chr11:46141220-46141710	K562	blood:	n/a	chr11:46141239-46141248
40	EGR1	chr11:46140970-46141692	K562	blood:	n/a	chr11:46141449-46141463
41	POLR2A	chr11:46140981-46141803	GM19193	blood:	n/a	n/a
42	TAF1	chr11:46141269-46141631	K562	blood:	n/a	n/a
43	ZKSCAN1	chr11:46140785-46141703	Hela-S3	cervix:	n/a	n/a
44	ZBTB7A	chr11:46141039-46141753	ECC-1	luminal epithelium:	n/a	n/a
45	HDAC2	chr11:46141241-46141479	K562	blood:	n/a	chr11:46141295-46141309 chr11:46141296-46141310 chr11:46141299-46141313 chr11:46141291-46141305 chr11:46141300-46141314 chr11:46141294-46141308 chr11:46141293-46141307 chr11:46141298-46141312 chr11:46141292-46141306
46	BCLAF1	chr11:46140890-46141820	GM12878	blood:	n/a	chr11:46141629-46141638
47	MYC	chr11:46140794-46141608	NB4	blood:	n/a	n/a
48	POLR2A	chr11:46140879-46141733	NB4	blood:	n/a	n/a
49	SP1	chr11:46141431-46141785	GM12878	blood:	n/a	n/a
50	MAFK	chr11:46140972-46141490	IMR90	lung:	n/a	chr11:46141323-46141338

No.	Distal block	Cell Line	Cell type
1	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
2	chr11:46140376..46142887-chr11:46639092..46640615,2	MCF-7	breast:
3	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
4	chr11:45942684..45944705-chr11:46141351..46143147,2	K562	blood:
5	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
6	chr11:45867136..45869190-chr11:46140608..46142204,2	K562	blood:
7	chr11:46141379..46143279-chr11:46237350..46239276,2	MCF-7	breast:
8	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:

Variant related genes	Relation type
PHF21A	TF binding region
ENSG00000180423	Chromatin interaction
ENSG00000255269	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3324786	chr11:46140801-46143549	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
2	esv3386885	chr11:46140826-46145624	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46138200-46144200	Active TSS	Ovary	ovary
2	chr11:46138800-46144600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:46138800-46144800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:46139000-46144400	Active TSS	GM12878-XiMat	blood
5	chr11:46139200-46144200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:46139400-46144600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:46139600-46142400	Active TSS	Right Atrium	heart
8	chr11:46139600-46144000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:46139600-46144400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:46139600-46145000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:46139800-46144600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:46139800-46144600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:46139800-46144600	Active TSS	K562	blood
14	chr11:46140000-46141800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:46140200-46141800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:46140200-46143800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr11:46140200-46144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:46140200-46144400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:46140200-46144400	Active TSS	NHLF	lung
20	chr11:46140200-46144600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:46140200-46144600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:46140200-46144600	Active TSS	Brain Germinal Matrix	brain
23	chr11:46140400-46144200	Active TSS	Colonic Mucosa	Colon
24	chr11:46140400-46144400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:46140400-46144400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:46140400-46144400	Active TSS	Brain Angular Gyrus	brain
27	chr11:46140400-46144400	Active TSS	Fetal Kidney	kidney
28	chr11:46140400-46144400	Active TSS	Psoas Muscle	Psoas
29	chr11:46140400-46144400	Active TSS	Stomach Smooth Muscle	stomach
30	chr11:46140400-46144400	Active TSS	HSMMtube	muscle
31	chr11:46140400-46144600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:46140400-46144600	Active TSS	A549	lung
33	chr11:46140400-46144800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:46140400-46144800	Active TSS	Right Ventricle	heart
35	chr11:46140600-46142400	Active TSS	Hela-S3	cervix
36	chr11:46140600-46142400	Active TSS	HepG2	liver
37	chr11:46140600-46144000	Active TSS	Fetal Stomach	stomach
38	chr11:46140600-46144000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:46140600-46144200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:46140600-46144200	Active TSS	Left Ventricle	heart
41	chr11:46140600-46144200	Active TSS	Small Intestine	intestine
42	chr11:46140600-46144400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:46140600-46144400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:46140600-46144400	Active TSS	Brain Substantia Nigra	brain
45	chr11:46140600-46144400	Active TSS	Colon Smooth Muscle	Colon
46	chr11:46140600-46144400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:46140600-46144600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:46140600-46144600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:46140600-46144600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:46140600-46144600	Active TSS	NHDF-Ad	bronchial

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