Variant report

Variant	rs368843545
Chromosome Location	chr21:44585602-44585603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:44584867-44585624	GM19193	blood:	n/a	n/a
2	POLR2A	chr21:44585074-44585819	H1-neurons	neurons:	n/a	n/a
3	ATF2	chr21:44584764-44585708	GM12878	blood:	n/a	n/a
4	PML	chr21:44584594-44585739	GM12878	blood:	n/a	n/a
5	CUX1	chr21:44584831-44585739	GM12878	blood:	n/a	n/a
6	CHD2	chr21:44584986-44585618	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:44585291-44585838	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr21:44584873-44585932	GM12891	blood:	n/a	n/a
9	IKZF1	chr21:44584883-44585784	GM12878	blood:	n/a	n/a
10	SP2	chr21:44585543-44585777	K562	blood:	n/a	n/a
11	MTA3	chr21:44584785-44585945	GM12878	blood:	n/a	n/a
12	MAX	chr21:44585551-44585888	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXM1	chr21:44584768-44585633	GM12878	blood:	n/a	n/a
14	FOXA2	chr21:44585344-44585632	HepG2	liver:	n/a	n/a
15	FOXA1	chr21:44585256-44585793	HepG2	liver:	n/a	n/a
16	TCF3	chr21:44585574-44585782	GM12878	blood:	n/a	n/a
17	CHD2	chr21:44585568-44585937	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr21:44584896-44585673	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:44584846-44585874	GM12878	blood:	n/a	n/a
20	MAX	chr21:44584898-44585712	GM12878	blood:	n/a	n/a
21	MAZ	chr21:44584928-44585663	GM12878	blood:	n/a	n/a
22	WRNIP1	chr21:44584895-44585610	GM12878	blood:	n/a	n/a
23	TCF12	chr21:44585587-44585762	GM12878	blood:	n/a	n/a
24	ELF1	chr21:44584736-44585700	GM12878	blood:	n/a	n/a
25	TCF12	chr21:44585362-44585805	H1-hESC	embryonic stem cell:	n/a	chr21:44585534-44585543
26	TCF12	chr21:44585472-44585677	H1-hESC	embryonic stem cell:	n/a	chr21:44585534-44585543
27	FOXA1	chr21:44585363-44585676	HepG2	liver:	n/a	n/a
28	RUNX3	chr21:44584739-44585831	GM12878	blood:	n/a	n/a
29	STAT5A	chr21:44584816-44585734	GM12878	blood:	n/a	n/a
30	RELA	chr21:44584008-44585720	GM12891	blood:	n/a	n/a
31	TCF12	chr21:44585449-44585893	GM12878	blood:	n/a	chr21:44585534-44585543
32	POLR2A	chr21:44584820-44586111	GM12892	blood:	n/a	n/a
33	POLR2A	chr21:44584790-44585668	GM12892	blood:	n/a	n/a
34	RUNX3	chr21:44584721-44586012	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr21:44584851-44585730	GM12878	blood:	n/a	n/a
36	MTA3	chr21:44584710-44585908	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44584155..44585737-chr21:44938790..44941419,2	MCF-7	breast:
2	chr21:44585524..44588327-chr21:44591894..44594890,2	K562	blood:
3	chr21:44584117..44588327-chr21:44591894..44594890,3	K562	blood:
4	chr21:44582998..44585767-chr21:45009273..45011214,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228120	TF binding region
CRYAA	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
8	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv587664	chr21:44585405-44598827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44579000-44585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:44579800-44586400	Enhancers	Fetal Muscle Leg	muscle
4	chr21:44582400-44593200	Weak transcription	Pancreas	Pancrea
5	chr21:44582400-44593600	Weak transcription	Gastric	stomach
6	chr21:44582800-44586600	Enhancers	HepG2	liver
7	chr21:44583000-44588200	Weak transcription	Lung	lung
8	chr21:44583200-44587400	Enhancers	Thymus	Thymus
9	chr21:44583200-44588200	Weak transcription	Spleen	Spleen
10	chr21:44583200-44588600	Enhancers	Fetal Thymus	thymus
11	chr21:44583200-44592800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr21:44583200-44593200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:44583200-44593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:44583400-44585800	Weak transcription	Fetal Intestine Large	intestine
15	chr21:44583600-44585800	Weak transcription	Fetal Intestine Small	intestine
16	chr21:44584000-44586000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr21:44584000-44588400	Weak transcription	Placenta	Placenta
18	chr21:44584200-44586200	Enhancers	Brain Germinal Matrix	brain
19	chr21:44584200-44588200	Weak transcription	Hela-S3	cervix
20	chr21:44584400-44586000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr21:44584400-44586400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:44584800-44586000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr21:44584800-44586400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:44584800-44586400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:44584800-44586400	Flanking Active TSS	GM12878-XiMat	blood
26	chr21:44585000-44585800	Enhancers	Brain Hippocampus Middle	brain
27	chr21:44585000-44585800	Enhancers	Fetal Brain Female	brain
28	chr21:44585000-44586000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr21:44585000-44586000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr21:44585000-44586200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:44585000-44586200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:44585000-44586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr21:44585000-44586400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr21:44585000-44586400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr21:44585000-44586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:44585000-44586400	Enhancers	Brain Substantia Nigra	brain
37	chr21:44585200-44585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:44585200-44586000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:44585200-44586200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr21:44585200-44586400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:44585200-44586400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr21:44585200-44586600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:44585400-44585800	Enhancers	Primary B cells from peripheral blood	blood
44	chr21:44585400-44586000	Enhancers	Brain Anterior Caudate	brain
45	chr21:44585400-44586000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr21:44585600-44585800	Enhancers	Fetal Brain Male	brain
47	chr21:44585600-44586200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr21:44585600-44586400	Enhancers	Colonic Mucosa	Colon
49	chr21:44585600-44586600	Enhancers	Duodenum Mucosa	Duodenum
50	chr21:44585600-44587000	Weak transcription	A549	lung

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