Variant report

Variant	rs148301270
Chromosome Location	chr13:51484808-51484809
allele	C/G
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	TEAD4	chr13:51484480-51485108	K562	blood:	n/a	n/a
2	POLR2A	chr13:51483539-51486579	NB4	blood:	n/a	n/a
3	CTCF	chr13:51484700-51484850	SAEC	small airway:	n/a	n/a
4	CHD2	chr13:51483621-51484910	GM12878	blood:	n/a	n/a
5	TBP	chr13:51484623-51485108	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr13:51483728-51484941	Hela-S3	cervix:	n/a	n/a
7	MAX	chr13:51483635-51485061	SK-N-SH	brain:	n/a	chr13:51484552-51484561
8	POLR2A	chr13:51483598-51484988	HepG2	liver:	n/a	n/a
9	POLR2A	chr13:51483539-51485699	K562	blood:	n/a	n/a
10	KAP1	chr13:51484491-51484916	HEK293	kidney:	n/a	n/a
11	ELF1	chr13:51483492-51484831	GM12878	blood:	n/a	chr13:51483744-51483756 chr13:51484457-51484468 chr13:51484457-51484468 chr13:51484459-51484468 chr13:51484458-51484467
12	CTCF	chr13:51484802-51484919	GM10248	blood:	n/a	n/a
13	CTCF	chr13:51484720-51484870	SK-N-SH_RA	brain:	n/a	n/a
14	MXI1	chr13:51483686-51484949	HepG2	liver:	n/a	n/a
15	WRNIP1	chr13:51484574-51485826	GM12878	blood:	n/a	n/a
16	CTCF	chr13:51484720-51484870	HA-sp	spinal cord:	n/a	n/a
17	MAX	chr13:51483499-51484999	SK-N-SH	brain:	n/a	chr13:51484552-51484561
18	MAX	chr13:51483554-51484996	HepG2	liver:	n/a	chr13:51484552-51484561
19	POLR2A	chr13:51483512-51484891	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr13:51484646-51484889	A549	lung:	n/a	n/a
21	HEY1	chr13:51483668-51484959	K562	blood:	n/a	chr13:51484284-51484299
22	SPI1	chr13:51483758-51484955	HL-60	blood:	n/a	n/a
23	POLR2A	chr13:51483396-51486497	GM12892	blood:	n/a	n/a
24	MAX	chr13:51483518-51485654	NB4	blood:	n/a	chr13:51484552-51484561
25	POLR2A	chr13:51483506-51485090	HL-60	blood:	n/a	n/a
26	POLR2A	chr13:51483649-51484957	MCF-7	breast:	n/a	n/a
27	HDAC2	chr13:51484125-51484811	HepG2	liver:	n/a	n/a
28	SMC3	chr13:51484530-51484954	GM12878	blood:	n/a	n/a
29	CREB1	chr13:51483565-51484813	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr13:51483812-51484964	H1-hESC	embryonic stem cell:	n/a	chr13:51484552-51484561
31	SIN3AK20	chr13:51483587-51484895	MCF-7	breast:	n/a	n/a
32	MAX	chr13:51483656-51484944	MCF-7	breast:	n/a	chr13:51484552-51484561
33	CTCF	chr13:51484800-51484950	SK-N-SH_RA	brain:	n/a	n/a
34	MYC	chr13:51483519-51486527	NB4	blood:	n/a	chr13:51484552-51484561
35	POLR2A	chr13:51483681-51484919	A549	lung:	n/a	n/a
36	MAX	chr13:51483523-51485025	A549	lung:	n/a	chr13:51484552-51484561
37	E2F6	chr13:51483727-51484852	Hela-S3	cervix:	n/a	chr13:51484410-51484420 chr13:51484132-51484143 chr13:51484294-51484303
38	POLR2A	chr13:51483587-51484987	K562	blood:	n/a	n/a
39	CTCF	chr13:51484720-51484870	HFF	foreskin:	n/a	n/a
40	POLR2A	chr13:51483518-51486559	GM19099	blood:	n/a	n/a
41	HEY1	chr13:51484653-51484822	HepG2	liver:	n/a	n/a
42	NFIC	chr13:51483470-51484959	GM12878	blood:	n/a	n/a
43	SMARCB1	chr13:51483589-51484946	Hela-S3	cervix:	n/a	n/a
44	YY1	chr13:51483757-51484947	ECC-1	luminal epithelium:	n/a	chr13:51484294-51484303 chr13:51484136-51484148 chr13:51484294-51484308
45	POLR2A	chr13:51483524-51484842	SK-N-SH	brain:	n/a	n/a
46	SIN3A	chr13:51483616-51484998	H1-hESC	embryonic stem cell:	n/a	chr13:51483897-51483908
47	GATA1	chr13:51484464-51485736	PBDE	blood:	n/a	chr13:51485080-51485096
48	SIN3AK20	chr13:51484690-51484833	HepG2	liver:	n/a	n/a
49	MAX	chr13:51483687-51484917	A549	lung:	n/a	chr13:51484552-51484561
50	MAZ	chr13:51483595-51484874	K562	blood:	n/a	chr13:51484552-51484561

No.	Distal block	Cell Line	Cell type
1	chr13:51484185..51486351-chr13:51503175..51505041,2	MCF-7	breast:
2	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
3	chr13:50510515..50512106-chr13:51482735..51485474,2	K562	blood:
4	chr13:50654380..50657403-chr13:51482897..51486295,4	K562	blood:
5	chr13:50655118..50657080-chr13:51484545..51486295,2	K562	blood:
6	chr13:51473931..51480255-chr13:51481989..51485518,9	MCF-7	breast:
7	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU7-1	chr13:51484619-51484848	ENSG00000233672.1
2	lnc-DLEU7-1	chr13:51484619-51484848	NR_046552

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region
ENSG00000123178	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000136104	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	chr13:51483400-51485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:51483400-51485000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr13:51483400-51485000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:51483400-51485000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr13:51483400-51485000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:51483400-51485000	Active TSS	Aorta	Aorta
7	chr13:51483400-51485000	Active TSS	Brain Angular Gyrus	brain
8	chr13:51483400-51485000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:51483400-51485000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr13:51483400-51485000	Active TSS	Fetal Kidney	kidney
11	chr13:51483400-51485000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr13:51483400-51485000	Active TSS	NHLF	lung
13	chr13:51483400-51485200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:51483400-51485200	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr13:51483400-51485200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:51483400-51485200	Active TSS	A549	lung
17	chr13:51483400-51485200	Active TSS	Hela-S3	cervix
18	chr13:51483400-51485200	Active TSS	NHDF-Ad	bronchial
19	chr13:51483400-51485400	Active TSS	K562	blood
20	chr13:51483400-51485600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:51483400-51486200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr13:51483400-51486400	Active TSS	Thymus	Thymus
23	chr13:51483600-51485000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:51483600-51485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr13:51483600-51485000	Active TSS	Lung	lung
26	chr13:51483600-51485000	Active TSS	Ovary	ovary
27	chr13:51483600-51485000	Active TSS	Psoas Muscle	Psoas
28	chr13:51483600-51485000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr13:51483600-51485000	Active TSS	Small Intestine	intestine
30	chr13:51483600-51485000	Active TSS	Spleen	Spleen
31	chr13:51483600-51485200	Active TSS	Primary B cells from peripheral blood	blood
32	chr13:51483600-51485800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:51483600-51486400	Active TSS	GM12878-XiMat	blood
34	chr13:51483800-51485000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr13:51483800-51485000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr13:51483800-51485000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr13:51483800-51485000	Active TSS	Fetal Heart	heart
38	chr13:51483800-51485200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:51483800-51485200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr13:51483800-51485200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:51483800-51485200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr13:51483800-51486400	Active TSS	Fetal Thymus	thymus
43	chr13:51484000-51485000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:51484400-51485000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:51484400-51485000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:51484400-51485000	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr13:51484400-51485200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:51484400-51485600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr13:51484400-51485600	Flanking Active TSS	Fetal Brain Male	brain
50	chr13:51484400-51485600	Flanking Active TSS	HUVEC	blood vessel

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