Variant report

Variant	rs150727247
Chromosome Location	chr11:46144521-46144522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:46139355-46144956	SK-N-SH	brain:	n/a	n/a
2	GATA1	chr11:46144063-46144852	PBDE	blood:	n/a	n/a
3	GATA3	chr11:46143877-46144935	SK-N-SH	brain:	n/a	n/a
4	ARID3A	chr11:46144336-46144766	HepG2	liver:	n/a	n/a
5	MEF2A	chr11:46144461-46144971	K562	blood:	n/a	chr11:46144900-46144915 chr11:46144738-46144753
6	JUN	chr11:46144388-46145411	K562	blood:	n/a	n/a
7	CTCF	chr11:46144480-46144630	AoAF	blood vessel:	n/a	n/a
8	TAL1	chr11:46144496-46144706	K562	blood:	n/a	n/a
9	FOSL2	chr11:46144491-46144988	SK-N-SH	brain:	n/a	chr11:46144723-46144734
10	CTCF	chr11:46144400-46144550	AoAF	blood vessel:	n/a	n/a
11	EP300	chr11:46144311-46144768	K562	blood:	n/a	n/a
12	CUX1	chr11:46144465-46144886	K562	blood:	n/a	n/a
13	CTCF	chr11:46144400-46144550	AG04449	skin:	n/a	n/a
14	CTCF	chr11:46144400-46144550	AG04450	lung:	n/a	n/a
15	CTCF	chr11:46144460-46144610	HA-sp	spinal cord:	n/a	n/a
16	RCOR1	chr11:46144473-46144812	K562	blood:	n/a	n/a
17	MYC	chr11:46144442-46144628	MCF10A-Er-Src	breast:	n/a	n/a
18	ARID3A	chr11:46144371-46144871	K562	blood:	n/a	n/a
19	POLR2A	chr11:46144512-46144657	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr11:46144439-46144969	SK-N-SH	brain:	n/a	chr11:46144723-46144734
21	CTCF	chr11:46144380-46144530	NHDF-neo	bronchial:	n/a	n/a
22	JUND	chr11:46144509-46144892	K562	blood:	n/a	chr11:46144722-46144733
23	ZNF384	chr11:46144111-46144525	K562	blood:	n/a	n/a
24	CTCF	chr11:46144420-46144570	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
2	chr11:46143224..46145220-chr11:46317344..46319023,2	K562	blood:
3	chr11:46143580..46145236-chr11:46369479..46372129,2	MCF-7	breast:
4	chr11:46125754..46127349-chr11:46143825..46145810,2	MCF-7	breast:
5	chr11:46142872..46144744-chr11:46382813..46385236,2	MCF-7	breast:
6	chr11:46143507..46145451-chr11:46333298..46335406,2	K562	blood:
7	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
8	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
9	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
10	chr11:46092605..46094562-chr11:46143473..46145813,3	K562	blood:
11	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
12	chr11:46143681..46146343-chr11:46159365..46161019,2	K562	blood:
13	chr11:45986176..45988319-chr11:46143475..46145056,2	MCF-7	breast:
14	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
15	chr11:45867179..45868974-chr11:46142893..46144558,2	K562	blood:

No data

Variant related genes	Relation type
PHF21A	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000121671	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	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
2	esv3407307	chr11:46142401-46144949	Enhancers Flanking Active TSS 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	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46138800-46144600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:46138800-46144800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:46139400-46144600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:46139600-46145000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:46139800-46144600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:46139800-46144600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:46139800-46144600	Active TSS	K562	blood
8	chr11:46140200-46144600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:46140200-46144600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:46140200-46144600	Active TSS	Brain Germinal Matrix	brain
11	chr11:46140400-46144600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:46140400-46144600	Active TSS	A549	lung
13	chr11:46140400-46144800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:46140400-46144800	Active TSS	Right Ventricle	heart
15	chr11:46140600-46144600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46140600-46144600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:46140600-46144600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:46140600-46144600	Active TSS	NHDF-Ad	bronchial
19	chr11:46140600-46144800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:46140600-46144800	Active TSS	Fetal Brain Female	brain
21	chr11:46140600-46145000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:46140800-46144800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:46140800-46144800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:46140800-46144800	Active TSS	Fetal Lung	lung
25	chr11:46141000-46144600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:46141000-46144600	Active TSS	Brain Anterior Caudate	brain
27	chr11:46141000-46144600	Active TSS	Fetal Muscle Leg	muscle
28	chr11:46141000-46144600	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:46141800-46148800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:46143400-46144800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr11:46143600-46144600	Active TSS	Right Atrium	heart
32	chr11:46143800-46144800	Active TSS	Fetal Brain Male	brain
33	chr11:46144000-46144600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:46144000-46144600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:46144000-46144600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:46144000-46144600	Flanking Active TSS	Thymus	Thymus
37	chr11:46144000-46144800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:46144000-46144800	Flanking Active TSS	HUVEC	blood vessel
39	chr11:46144200-46144600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:46144200-46144800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:46144200-46144800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:46144200-46144800	Enhancers	Small Intestine	intestine
43	chr11:46144200-46148400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:46144200-46148400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:46144200-46148400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:46144200-46148800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:46144400-46144600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:46144400-46144600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:46144400-46144600	Weak transcription	Adipose Nuclei	Adipose
50	chr11:46144400-46144600	Weak transcription	HepG2	liver

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