Variant report

Variant	rs549441721
Chromosome Location	chr13:51484148-51484149
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	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	MXI1	chr13:51483984-51484607	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr13:51483698-51484416	A549	lung:	n/a	chr13:51484132-51484143 chr13:51484294-51484303
10	TAF1	chr13:51483776-51484275	GM12892	blood:	n/a	n/a
11	USF1	chr13:51484010-51484643	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr13:51483790-51484560	SK-N-SH	brain:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
13	POLR2A	chr13:51483735-51484306	SK-N-SH	brain:	n/a	n/a
14	ELF1	chr13:51483492-51484831	GM12878	blood:	n/a	chr13:51483744-51483756 chr13:51484457-51484468 chr13:51484457-51484468 chr13:51484459-51484468 chr13:51484458-51484467
15	USF1	chr13:51484012-51484428	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr13:51483686-51484949	HepG2	liver:	n/a	n/a
17	YY1	chr13:51484023-51484202	A549	lung:	n/a	chr13:51484136-51484148
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	SIN3AK20	chr13:51484082-51484595	K562	blood:	n/a	n/a
25	ETS1	chr13:51483769-51484304	K562	blood:	n/a	chr13:51484292-51484303
26	HEY1	chr13:51483668-51484959	K562	blood:	n/a	chr13:51484284-51484299
27	SPI1	chr13:51483758-51484955	HL-60	blood:	n/a	n/a
28	POLR2A	chr13:51483694-51484344	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr13:51483396-51486497	GM12892	blood:	n/a	n/a
30	MAX	chr13:51483518-51485654	NB4	blood:	n/a	chr13:51484552-51484561
31	POLR2A	chr13:51483506-51485090	HL-60	blood:	n/a	n/a
32	POLR2A	chr13:51483649-51484957	MCF-7	breast:	n/a	n/a
33	HDAC2	chr13:51484125-51484811	HepG2	liver:	n/a	n/a
34	POLR2A	chr13:51483715-51484640	A549	lung:	n/a	n/a
35	CREB1	chr13:51483565-51484813	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr13:51483812-51484964	H1-hESC	embryonic stem cell:	n/a	chr13:51484552-51484561
37	TAF1	chr13:51483745-51484247	GM12891	blood:	n/a	n/a
38	SIN3AK20	chr13:51483587-51484895	MCF-7	breast:	n/a	n/a
39	MAX	chr13:51483656-51484944	MCF-7	breast:	n/a	chr13:51484552-51484561
40	SIN3AK20	chr13:51483776-51484657	SK-N-SH	brain:	n/a	n/a
41	CCNT2	chr13:51483687-51484501	K562	blood:	n/a	chr13:51483745-51483754
42	MYC	chr13:51483519-51486527	NB4	blood:	n/a	chr13:51484552-51484561
43	POLR2A	chr13:51483681-51484919	A549	lung:	n/a	n/a
44	POLR2A	chr13:51483706-51484411	A549	lung:	n/a	n/a
45	YY1	chr13:51483709-51484580	K562	blood:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
46	MAX	chr13:51483523-51485025	A549	lung:	n/a	chr13:51484552-51484561
47	YY1	chr13:51483773-51484536	A549	lung:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
48	E2F6	chr13:51483727-51484852	Hela-S3	cervix:	n/a	chr13:51484410-51484420 chr13:51484132-51484143 chr13:51484294-51484303
49	NFYB	chr13:51483746-51484326	GM12878	blood:	n/a	n/a
50	YY1	chr13:51483850-51484557	K562	blood:	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	chr13:51484081..51484759-chr3:150264254..150264982,2	Hela-S3	cervix:
3	chr13:50510515..50512106-chr13:51482735..51485474,2	K562	blood:
4	chr13:50654380..50657403-chr13:51482897..51486295,4	K562	blood:
5	chr13:51483541..51484529-chr4:164415235..164416192,2	HCT-116	colon:
6	chr13:51483715..51484216-chr2:44001025..44001702,2	Hela-S3	cervix:
7	chr13:51473931..51480255-chr13:51481989..51485518,9	MCF-7	breast:
8	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region
ENSG00000144895	Chromatin interaction
ENSG00000138036	Chromatin interaction
ENSG00000198498	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000231607	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	chr13:51483400-51484400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:51483400-51484400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:51483400-51484600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:51483400-51484600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr13:51483400-51484600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:51483400-51484600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:51483400-51484600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:51483400-51484600	Active TSS	Liver	Liver
11	chr13:51483400-51484600	Active TSS	Brain Anterior Caudate	brain
12	chr13:51483400-51484600	Active TSS	Brain Hippocampus Middle	brain
13	chr13:51483400-51484600	Active TSS	Colonic Mucosa	Colon
14	chr13:51483400-51484600	Active TSS	Fetal Brain Female	brain
15	chr13:51483400-51484600	Active TSS	Fetal Muscle Trunk	muscle
16	chr13:51483400-51484600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr13:51483400-51484600	Active TSS	Right Ventricle	heart
18	chr13:51483400-51484600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr13:51483400-51484600	Active TSS	NH-A	brain
20	chr13:51483400-51484800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:51483400-51484800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:51483400-51484800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:51483400-51484800	Active TSS	Brain Substantia Nigra	brain
24	chr13:51483400-51484800	Active TSS	Colon Smooth Muscle	Colon
25	chr13:51483400-51484800	Active TSS	Duodenum Mucosa	Duodenum
26	chr13:51483400-51484800	Active TSS	Fetal Intestine Small	intestine
27	chr13:51483400-51484800	Active TSS	Fetal Stomach	stomach
28	chr13:51483400-51484800	Active TSS	Right Atrium	heart
29	chr13:51483400-51484800	Active TSS	NHEK	skin
30	chr13:51483400-51484800	Active TSS	Osteobl	bone
31	chr13:51483400-51485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr13:51483400-51485000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr13:51483400-51485000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:51483400-51485000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr13:51483400-51485000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:51483400-51485000	Active TSS	Aorta	Aorta
37	chr13:51483400-51485000	Active TSS	Brain Angular Gyrus	brain
38	chr13:51483400-51485000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:51483400-51485000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr13:51483400-51485000	Active TSS	Fetal Kidney	kidney
41	chr13:51483400-51485000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:51483400-51485000	Active TSS	NHLF	lung
43	chr13:51483400-51485200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr13:51483400-51485200	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr13:51483400-51485200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:51483400-51485200	Active TSS	A549	lung
47	chr13:51483400-51485200	Active TSS	Hela-S3	cervix
48	chr13:51483400-51485200	Active TSS	NHDF-Ad	bronchial
49	chr13:51483400-51485400	Active TSS	K562	blood
50	chr13:51483400-51485600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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