Variant report

Variant	rs555245655
Chromosome Location	chr21:45431991-45431992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45431709-45432448	ECC-1	luminal epithelium:	n/a	n/a
2	CREB1	chr21:45431836-45432451	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr21:45431792-45433448	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:45431380-45432667	ECC-1	luminal epithelium:	n/a	n/a
5	BRCA1	chr21:45431979-45432209	Hela-S3	cervix:	n/a	n/a
6	E2F1	chr21:45431897-45433033	Hela-S3	cervix:	n/a	chr21:45432226-45432236 chr21:45432063-45432072
7	JUND	chr21:45431988-45432280	HepG2	liver:	n/a	n/a
8	SPI1	chr21:45431947-45432232	K562	blood:	n/a	chr21:45432076-45432089
9	GABPA	chr21:45431709-45432444	HL-60	blood:	n/a	n/a
10	MAFK	chr21:45431898-45432217	Hela-S3	cervix:	n/a	n/a
11	HEY1	chr21:45431634-45433000	K562	blood:	n/a	chr21:45432188-45432203 chr21:45432060-45432075 chr21:45431648-45431663 chr21:45432229-45432244
12	JUND	chr21:45431834-45432387	A549	lung:	n/a	n/a
13	MAX	chr21:45431691-45432323	SK-N-SH	brain:	n/a	n/a
14	EGR1	chr21:45431721-45432020	H1-hESC	embryonic stem cell:	n/a	n/a
15	PAX5	chr21:45431801-45432409	GM12878	blood:	n/a	n/a
16	MXI1	chr21:45431929-45432273	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr21:45431659-45432313	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45432076-45432087
18	MAZ	chr21:45431843-45432953	HepG2	liver:	n/a	n/a
19	POLR2A	chr21:45431515-45433061	K562	blood:	n/a	n/a
20	MAX	chr21:45431302-45432663	A549	lung:	n/a	n/a
21	MYC	chr21:45431751-45432283	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr21:45431442-45433094	K562	blood:	n/a	n/a
23	KAP1	chr21:45431770-45432298	HEK293	kidney:	n/a	n/a
24	TAF1	chr21:45431555-45432434	ECC-1	luminal epithelium:	n/a	n/a
25	GABPA	chr21:45431358-45432716	MCF-7	breast:	n/a	chr21:45431651-45431660
26	POLR2A	chr21:45431752-45433084	GM15510	blood:	n/a	n/a
27	GABPA	chr21:45431807-45433128	SK-N-SH	brain:	n/a	n/a
28	ZNF143	chr21:45431947-45432186	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:45431849-45433056	HepG2	liver:	n/a	n/a
30	E2F4	chr21:45431498-45433086	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45431651-45431660
31	FOXM1	chr21:45431844-45432233	GM12878	blood:	n/a	n/a
32	POLR2A	chr21:45431693-45432435	HCT-116	colon:	n/a	n/a
33	REST	chr21:45431900-45432537	PFSK-1	brain:	n/a	chr21:45431915-45431928
34	SPI1	chr21:45431555-45432349	HL-60	blood:	n/a	chr21:45431768-45431781 chr21:45432076-45432089
35	MAX	chr21:45431808-45432331	A549	lung:	n/a	n/a
36	YY1	chr21:45431950-45432244	HCT-116	colon:	n/a	chr21:45432187-45432196
37	ELF1	chr21:45431567-45433124	K562	blood:	n/a	n/a
38	TAF1	chr21:45431751-45432362	H1-hESC	embryonic stem cell:	n/a	n/a
39	SRF	chr21:45431823-45432311	MCF-7	breast:	n/a	n/a
40	POLR2A	chr21:45431417-45433000	Raji	blood:	n/a	n/a
41	SIX5	chr21:45431966-45432294	GM12878	blood:	n/a	n/a
42	HDAC2	chr21:45431728-45433157	MCF-7	breast:	n/a	n/a
43	ATF3	chr21:45431968-45432313	K562	blood:	n/a	n/a
44	MAX	chr21:45431627-45433045	HepG2	liver:	n/a	n/a
45	TAF1	chr21:45431734-45432245	SK-N-SH	brain:	n/a	n/a
46	ATF2	chr21:45431870-45432271	GM12878	blood:	n/a	n/a
47	POLR2A	chr21:45431761-45433076	GM12892	blood:	n/a	n/a
48	IRF1	chr21:45431788-45432965	K562	blood:	n/a	chr21:45432062-45432076 chr21:45432074-45432083
49	POLR2A	chr21:45431733-45432457	HEK293	kidney:	n/a	n/a
50	YY1	chr21:45431780-45432348	GM12891	blood:	n/a	chr21:45432187-45432196

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
2	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
3	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
4	chr21:45431683..45433635-chr21:45552005..45554023,2	K562	blood:
5	chr1:167905439..167906059-chr21:45431832..45432556,2	Hela-S3	cervix:
6	chr21:45328589..45330821-chr21:45430342..45432197,2	K562	blood:
7	chr21:45207900..45209521-chr21:45431429..45433903,2	MCF-7	breast:
8	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
9	chr17:62971538..62972281-chr21:45431721..45432503,2	Hela-S3	cervix:
10	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
11	chr21:45187143..45189107-chr21:45429990..45432008,2	K562	blood:
12	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
13	chr21:45416695..45418869-chr21:45430273..45432028,2	K562	blood:
14	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
15	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
16	chr17:48943259..48944005-chr21:45431937..45432566,2	Hela-S3	cervix:
17	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
18	chr20:60877447..60878118-chr21:45431566..45432541,2	Hela-S3	cervix:
19	chr21:37441962..37442618-chr21:45431913..45432480,2	Hela-S3	cervix:
20	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
21	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
22	chr1:23885346..23886319-chr21:45431568..45432074,2	Hela-S3	cervix:
23	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
24	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
25	chr21:45431673..45432633-chr5:10353216..10354079,2	Hela-S3	cervix:
26	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
27	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
28	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
29	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
30	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000130706	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000159228	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000117318	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000145495	Chromatin interaction
ENSG00000160213	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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3360464	chr21:45431274-45433672	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3323312	chr21:45431349-45433897	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:45431000-45432000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr21:45431000-45433000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45431000-45433200	Active TSS	Brain Anterior Caudate	brain
5	chr21:45431200-45432000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr21:45431200-45432400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:45431200-45432800	Active TSS	Fetal Muscle Trunk	muscle
8	chr21:45431200-45433000	Active TSS	Brain Germinal Matrix	brain
9	chr21:45431200-45433000	Active TSS	Fetal Lung	lung
10	chr21:45431200-45433000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr21:45431200-45433000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr21:45431200-45433000	Active TSS	NHLF	lung
13	chr21:45431200-45433200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr21:45431200-45433200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45431200-45433200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:45431200-45433200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:45431200-45433200	Active TSS	Fetal Kidney	kidney
18	chr21:45431200-45433200	Active TSS	NHEK	skin
19	chr21:45431200-45433400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr21:45431200-45433400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr21:45431200-45433400	Active TSS	Rectal Smooth Muscle	rectum
22	chr21:45431200-45433400	Active TSS	A549	lung
23	chr21:45431200-45433600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:45431200-45433600	Active TSS	Psoas Muscle	Psoas
25	chr21:45431200-45433800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr21:45431200-45433800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr21:45431200-45433800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:45431200-45434000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr21:45431200-45434200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:45431200-45434200	Active TSS	HSMMtube	muscle
31	chr21:45431400-45432200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr21:45431400-45432800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr21:45431400-45432800	Active TSS	Adipose Nuclei	Adipose
34	chr21:45431400-45432800	Active TSS	Colonic Mucosa	Colon
35	chr21:45431400-45432800	Active TSS	Fetal Brain Female	brain
36	chr21:45431400-45432800	Active TSS	Right Ventricle	heart
37	chr21:45431400-45433000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:45431400-45433000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr21:45431400-45433000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:45431400-45433000	Active TSS	Liver	Liver
41	chr21:45431400-45433000	Active TSS	Duodenum Mucosa	Duodenum
42	chr21:45431400-45433000	Active TSS	Placenta	Placenta
43	chr21:45431400-45433000	Active TSS	Left Ventricle	heart
44	chr21:45431400-45433000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr21:45431400-45433000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr21:45431400-45433000	Active TSS	Dnd41	blood
47	chr21:45431400-45433000	Active TSS	HepG2	liver
48	chr21:45431400-45433000	Active TSS	NH-A	brain
49	chr21:45431400-45433200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:45431400-45433200	Active TSS	HUES6 Cell Line	embryonic stem cell

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