Variant report

Variant	rs577725827
Chromosome Location	chr13:51483985-51483986
allele	A/C
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	POLR2A	chr13:51483539-51486579	NB4	blood:	n/a	n/a
2	CHD2	chr13:51483621-51484910	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:51483728-51484941	Hela-S3	cervix:	n/a	n/a
4	MAX	chr13:51483635-51485061	SK-N-SH	brain:	n/a	chr13:51484552-51484561
5	POLR2A	chr13:51483598-51484988	HepG2	liver:	n/a	n/a
6	TAF1	chr13:51483646-51484698	HepG2	liver:	n/a	n/a
7	POLR2A	chr13:51483539-51485699	K562	blood:	n/a	n/a
8	ZNF143	chr13:51483814-51484126	K562	blood:	n/a	n/a
9	MXI1	chr13:51483984-51484607	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr13:51483698-51484416	A549	lung:	n/a	chr13:51484132-51484143 chr13:51484294-51484303
11	TAF1	chr13:51483776-51484275	GM12892	blood:	n/a	n/a
12	PAX5	chr13:51483713-51484008	GM12878	blood:	n/a	n/a
13	YY1	chr13:51483790-51484560	SK-N-SH	brain:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
14	POLR2A	chr13:51483735-51484306	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr13:51483492-51484831	GM12878	blood:	n/a	chr13:51483744-51483756 chr13:51484457-51484468 chr13:51484457-51484468 chr13:51484459-51484468 chr13:51484458-51484467
16	RFX5	chr13:51483649-51483985	GM12878	blood:	n/a	n/a
17	MXI1	chr13:51483686-51484949	HepG2	liver:	n/a	n/a
18	MAX	chr13:51483499-51484999	SK-N-SH	brain:	n/a	chr13:51484552-51484561
19	E2F6	chr13:51483723-51484698	H1-hESC	embryonic stem cell:	n/a	chr13:51484410-51484420 chr13:51484132-51484143 chr13:51484294-51484303
20	TAF1	chr13:51483611-51484327	A549	lung:	n/a	n/a
21	MAX	chr13:51483554-51484996	HepG2	liver:	n/a	chr13:51484552-51484561
22	TAF1	chr13:51483792-51484236	GM12891	blood:	n/a	n/a
23	POLR2A	chr13:51483512-51484891	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr13:51483900-51484050	GM12867	blood:	n/a	n/a
25	POLR2A	chr13:51483740-51484005	HepG2	liver:	n/a	n/a
26	ETS1	chr13:51483769-51484304	K562	blood:	n/a	chr13:51484292-51484303
27	HEY1	chr13:51483668-51484959	K562	blood:	n/a	chr13:51484284-51484299
28	SPI1	chr13:51483758-51484955	HL-60	blood:	n/a	n/a
29	POLR2A	chr13:51483694-51484344	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr13:51483396-51486497	GM12892	blood:	n/a	n/a
31	MAX	chr13:51483518-51485654	NB4	blood:	n/a	chr13:51484552-51484561
32	POLR2A	chr13:51483506-51485090	HL-60	blood:	n/a	n/a
33	POLR2A	chr13:51483649-51484957	MCF-7	breast:	n/a	n/a
34	ELK1	chr13:51483725-51484098	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr13:51483715-51484640	A549	lung:	n/a	n/a
36	CTCF	chr13:51483761-51484014	K562	blood:	n/a	chr13:51483836-51483849
37	CREB1	chr13:51483565-51484813	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr13:51483812-51484964	H1-hESC	embryonic stem cell:	n/a	chr13:51484552-51484561
39	TAF1	chr13:51483745-51484247	GM12891	blood:	n/a	n/a
40	EP300	chr13:51483689-51483992	K562	blood:	n/a	n/a
41	SIN3AK20	chr13:51483587-51484895	MCF-7	breast:	n/a	n/a
42	MAX	chr13:51483656-51484944	MCF-7	breast:	n/a	chr13:51484552-51484561
43	SIN3AK20	chr13:51483776-51484657	SK-N-SH	brain:	n/a	n/a
44	CCNT2	chr13:51483687-51484501	K562	blood:	n/a	chr13:51483745-51483754
45	MYC	chr13:51483519-51486527	NB4	blood:	n/a	chr13:51484552-51484561
46	POLR2A	chr13:51483681-51484919	A549	lung:	n/a	n/a
47	POLR2A	chr13:51483706-51484411	A549	lung:	n/a	n/a
48	YY1	chr13:51483709-51484580	K562	blood:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
49	MAX	chr13:51483523-51485025	A549	lung:	n/a	chr13:51484552-51484561
50	YY1	chr13:51483773-51484536	A549	lung:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308

No.	Distal block	Cell Line	Cell type
1	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
2	chr13:50510515..50512106-chr13:51482735..51485474,2	K562	blood:
3	chr13:50654380..50657403-chr13:51482897..51486295,4	K562	blood:
4	chr13:51483541..51484529-chr4:164415235..164416192,2	HCT-116	colon:
5	chr13:51483715..51484216-chr2:44001025..44001702,2	Hela-S3	cervix:
6	chr13:51473931..51480255-chr13:51481989..51485518,9	MCF-7	breast:
7	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region
ENSG00000138036	Chromatin interaction
ENSG00000198498	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000233672	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	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv826645	chr13:51483815-51484897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51483000-51484800	Active TSS	Rectal Smooth Muscle	rectum
2	chr13:51483200-51484600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:51483400-51484000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr13:51483400-51484000	Active TSS	HepG2	liver
5	chr13:51483400-51484400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:51483400-51484400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:51483400-51484600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:51483400-51484600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr13:51483400-51484600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:51483400-51484600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:51483400-51484600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:51483400-51484600	Active TSS	Liver	Liver
13	chr13:51483400-51484600	Active TSS	Brain Anterior Caudate	brain
14	chr13:51483400-51484600	Active TSS	Brain Hippocampus Middle	brain
15	chr13:51483400-51484600	Active TSS	Colonic Mucosa	Colon
16	chr13:51483400-51484600	Active TSS	Fetal Brain Female	brain
17	chr13:51483400-51484600	Active TSS	Fetal Muscle Trunk	muscle
18	chr13:51483400-51484600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:51483400-51484600	Active TSS	Right Ventricle	heart
20	chr13:51483400-51484600	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr13:51483400-51484600	Active TSS	NH-A	brain
22	chr13:51483400-51484800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:51483400-51484800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:51483400-51484800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:51483400-51484800	Active TSS	Brain Substantia Nigra	brain
26	chr13:51483400-51484800	Active TSS	Colon Smooth Muscle	Colon
27	chr13:51483400-51484800	Active TSS	Duodenum Mucosa	Duodenum
28	chr13:51483400-51484800	Active TSS	Fetal Intestine Small	intestine
29	chr13:51483400-51484800	Active TSS	Fetal Stomach	stomach
30	chr13:51483400-51484800	Active TSS	Right Atrium	heart
31	chr13:51483400-51484800	Active TSS	NHEK	skin
32	chr13:51483400-51484800	Active TSS	Osteobl	bone
33	chr13:51483400-51485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr13:51483400-51485000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr13:51483400-51485000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:51483400-51485000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr13:51483400-51485000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:51483400-51485000	Active TSS	Aorta	Aorta
39	chr13:51483400-51485000	Active TSS	Brain Angular Gyrus	brain
40	chr13:51483400-51485000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:51483400-51485000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr13:51483400-51485000	Active TSS	Fetal Kidney	kidney
43	chr13:51483400-51485000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr13:51483400-51485000	Active TSS	NHLF	lung
45	chr13:51483400-51485200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr13:51483400-51485200	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr13:51483400-51485200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:51483400-51485200	Active TSS	A549	lung
49	chr13:51483400-51485200	Active TSS	Hela-S3	cervix
50	chr13:51483400-51485200	Active TSS	NHDF-Ad	bronchial

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