Variant report

Variant	rs3746824
Chromosome Location	chr21:15588278-15588279
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	SP1	chr21:15588106-15588627	H1-hESC	embryonic stem cell:	n/a	chr21:15588367-15588377 chr21:15588366-15588378 chr21:15588367-15588377 chr21:15588366-15588378
2	HMGN3	chr21:15588231-15588851	K562	blood:	n/a	n/a
3	POLR2A	chr21:15588270-15588787	H1-neurons	neurons:	n/a	n/a
4	MYC	chr21:15588228-15589001	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXP2	chr21:15588219-15588561	PFSK-1	brain:	n/a	n/a
6	SIN3A	chr21:15588259-15589640	H1-hESC	embryonic stem cell:	n/a	chr21:15588623-15588634
7	MAX	chr21:15588267-15588488	K562	blood:	n/a	n/a
8	EGR1	chr21:15588242-15588578	K562	blood:	n/a	chr21:15588308-15588315 chr21:15588345-15588352
9	ZBTB7A	chr21:15588264-15588529	K562	blood:	n/a	n/a
10	CTCF	chr21:15588260-15588410	MCF-7	breast:	n/a	n/a
11	MAZ	chr21:15588104-15588691	IMR90	lung:	n/a	n/a
12	IRF1	chr21:15588192-15588618	K562	blood:	n/a	chr21:15588366-15588380
13	REST	chr21:15588213-15589064	H1-neurons	neurons:	n/a	n/a
14	HA-E2F1	chr21:15588094-15589260	MCF-7	breast:	n/a	chr21:15588435-15588445
15	MAZ	chr21:15588192-15589117	K562	blood:	n/a	n/a
16	ZBTB7A	chr21:15588245-15589007	ECC-1	luminal epithelium:	n/a	chr21:15588971-15588980 chr21:15588618-15588625
17	CCNT2	chr21:15588227-15588771	K562	blood:	n/a	n/a
18	TAF1	chr21:15588265-15588776	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr21:15588182-15588566	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr21:15588271-15588662	K562	blood:	n/a	n/a
21	MAX	chr21:15588216-15588660	K562	blood:	n/a	n/a
22	RCOR1	chr21:15588242-15588909	K562	blood:	n/a	n/a
23	UBTF	chr21:15588189-15588326	K562	blood:	n/a	n/a
24	ELF1	chr21:15588275-15588472	K562	blood:	n/a	n/a
25	CTCF	chr21:15588255-15588484	Spleen_OC	spleen:	n/a	n/a
26	SP1	chr21:15588226-15588612	GM12878	blood:	n/a	chr21:15588367-15588377 chr21:15588366-15588378 chr21:15588367-15588377 chr21:15588366-15588378
27	CTCF	chr21:15588260-15588410	HRE	kidney:	n/a	n/a
28	CTCF	chr21:15588240-15588390	GM12865	blood:	n/a	n/a
29	POLR2A	chr21:15588260-15589134	H1-hESC	embryonic stem cell:	n/a	n/a
30	EGR1	chr21:15588205-15588597	K562	blood:	n/a	chr21:15588308-15588315 chr21:15588345-15588352
31	MYC	chr21:15588238-15588560	K562	blood:	n/a	n/a
32	POLR2A	chr21:15588111-15589792	SK-N-MC	brain:	n/a	n/a
33	EGR1	chr21:15588181-15588601	H1-hESC	embryonic stem cell:	n/a	chr21:15588308-15588315 chr21:15588345-15588352
34	E2F4	chr21:15588247-15588565	MCF10A-Er-Src	breast:	n/a	chr21:15588435-15588445

Variant related genes	Relation type
RBM11	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv913402	chr21:15545350-15606128	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15587800-15588800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:15587800-15589600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr21:15588000-15588400	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:15588000-15588400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:15588000-15588400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr21:15588000-15588400	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr21:15588000-15588400	Active TSS	Brain Germinal Matrix	brain
8	chr21:15588000-15588600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr21:15588000-15588800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:15588000-15588800	Active TSS	Primary B cells from cord blood	blood
11	chr21:15588000-15588800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:15588000-15588800	Active TSS	Fetal Brain Female	brain
13	chr21:15588000-15588800	Active TSS	Thymus	Thymus
14	chr21:15588000-15589000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:15588000-15589000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr21:15588000-15589000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:15588000-15589000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:15588000-15589000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:15588000-15589000	Active TSS	Ovary	ovary
20	chr21:15588000-15589200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:15588000-15589200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr21:15588000-15589200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:15588000-15589200	Bivalent/Poised TSS	A549	lung
24	chr21:15588000-15589400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr21:15588000-15589400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:15588000-15589400	Active TSS	Brain Angular Gyrus	brain
27	chr21:15588000-15589400	Active TSS	Brain Anterior Caudate	brain
28	chr21:15588000-15589600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr21:15588000-15589600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr21:15588000-15589600	Active TSS	Brain Cingulate Gyrus	brain
31	chr21:15588000-15589600	Active TSS	Brain Hippocampus Middle	brain
32	chr21:15588000-15589600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr21:15588000-15589600	Active TSS	Brain Substantia Nigra	brain
34	chr21:15588000-15589600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr21:15588000-15589800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:15588200-15588400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
37	chr21:15588200-15588400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:15588200-15588400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:15588200-15588400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:15588200-15588400	Enhancers	Fetal Brain Male	brain
41	chr21:15588200-15588400	Bivalent/Poised TSS	Left Ventricle	heart
42	chr21:15588200-15588400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr21:15588200-15588400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr21:15588200-15588400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr21:15588200-15588400	Enhancers	Small Intestine	intestine
46	chr21:15588200-15588400	Enhancers	Spleen	Spleen
47	chr21:15588200-15588600	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr21:15588200-15588600	Active TSS	Primary hematopoietic stem cells	blood
49	chr21:15588200-15588600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:15588200-15588600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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