Variant report

Variant	rs543816096
Chromosome Location	chr13:30170209-30170210
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	CTCF	chr13:30170100-30170250	AG09309	skin:	n/a	chr13:30170207-30170220
2	CTCF	chr13:30170060-30170210	AG04450	lung:	n/a	n/a
3	POLR2A	chr13:30168488-30170239	NB4	blood:	n/a	n/a
4	MXI1	chr13:30167583-30170303	IMR90	lung:	n/a	chr13:30167942-30167951
5	POLR2A	chr13:30168329-30170450	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:30168504-30170378	GM18526	blood:	n/a	n/a
7	POLR2A	chr13:30168331-30170291	PBDE	blood:	n/a	n/a
8	CTCF	chr13:30170100-30170250	HPAF	blood vessel:	n/a	chr13:30170207-30170220
9	POLR2A	chr13:30168409-30170279	K562	blood:	n/a	n/a
10	POLR2A	chr13:30168986-30170315	MCF-7	breast:	n/a	n/a
11	TBP	chr13:30168491-30170325	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXP2	chr13:30169677-30170271	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr13:30168431-30170326	Hela-S3	cervix:	n/a	n/a
14	MAX	chr13:30168336-30170283	MCF-7	breast:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
15	POLR2A	chr13:30168185-30170397	GM12892	blood:	n/a	n/a
16	JUN	chr13:30170096-30170332	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr13:30168413-30170264	HL-60	blood:	n/a	n/a
18	MAX	chr13:30169560-30170343	SK-N-SH	brain:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726
19	POLR2A	chr13:30168369-30170250	GM12878	blood:	n/a	n/a
20	TAF1	chr13:30168397-30170313	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr13:30170141-30170229	H1-hESC	embryonic stem cell:	n/a	chr13:30170207-30170220
22	ELF1	chr13:30169875-30170228	K562	blood:	n/a	chr13:30169961-30169973 chr13:30169936-30169945
23	CTCF	chr13:30170080-30170230	AG09309	skin:	n/a	chr13:30170207-30170220
24	MAX	chr13:30168302-30170290	NB4	blood:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
25	MAZ	chr13:30168654-30170356	GM12878	blood:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
26	POLR2A	chr13:30168443-30170218	GM12878	blood:	n/a	n/a
27	CTCF	chr13:30170060-30170210	HMF	breast:	n/a	n/a
28	SIN3AK20	chr13:30169893-30170247	SK-N-SH	brain:	n/a	n/a
29	TAF1	chr13:30168871-30170220	HepG2	liver:	n/a	n/a
30	STAT5A	chr13:30169978-30170356	GM12878	blood:	n/a	n/a
31	CTCF	chr13:30170060-30170210	HBMEC	blood vessel:	n/a	n/a
32	POLR2A	chr13:30170052-30170220	H1-hESC	embryonic stem cell:	n/a	n/a
33	PAX5	chr13:30169645-30170242	GM12892	blood:	n/a	n/a
34	POLR2A	chr13:30169017-30170282	H1-neurons	neurons:	n/a	n/a
35	NFYB	chr13:30169669-30170297	GM12878	blood:	n/a	n/a
36	CTCF	chr13:30170060-30170210	GM12878	blood:	n/a	n/a
37	EP300	chr13:30170009-30170278	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr13:30169997-30170256	IMR90	lung:	n/a	chr13:30170207-30170220
39	CTCF	chr13:30170080-30170230	GM12875	blood:	n/a	chr13:30170207-30170220
40	POLR2A	chr13:30168499-30170237	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr13:30168544-30170271	K562	blood:	n/a	n/a
42	SP1	chr13:30169838-30170252	GM12878	blood:	n/a	chr13:30169988-30170000 chr13:30169917-30169938 chr13:30169989-30169999 chr13:30169989-30169999 chr13:30169990-30169999 chr13:30169989-30169998 chr13:30169988-30170000
43	TBP	chr13:30170016-30170260	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr13:30170100-30170250	GM12875	blood:	n/a	chr13:30170207-30170220
45	MAZ	chr13:30168590-30170239	K562	blood:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
46	CTCF	chr13:30170120-30170270	GM12868	blood:	n/a	chr13:30170207-30170220
47	MAX	chr13:30168188-30170403	HCT-116	colon:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
48	CREB1	chr13:30169675-30170209	A549	lung:	n/a	n/a
49	E2F6	chr13:30168857-30170253	K562	blood:	n/a	chr13:30169800-30169810 chr13:30169560-30169570 chr13:30169940-30169950 chr13:30169176-30169185 chr13:30168910-30168920 chr13:30169562-30169571 chr13:30169557-30169567 chr13:30169937-30169947
50	MAX	chr13:30168532-30170250	GM12878	blood:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296

No.	Distal block	Cell Line	Cell type
1	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
2	chr13:30168902..30170623-chr13:47369921..47372567,2	MCF-7	breast:
3	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTUS2-2	chr13:30170020-30170280	XLOC_010330

Variant related genes	Relation type
SLC7A1	TF binding region
ENSG00000132938	Chromatin interaction
ENSG00000139684	Chromatin interaction
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420380	chr13:30168177-30170725	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3359253	chr13:30168577-30171125	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3445424	chr13:30169002-30170950	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:30167600-30170400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr13:30167600-30170400	Active TSS	A549	lung
5	chr13:30167600-30170400	Active TSS	Hela-S3	cervix
6	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30167800-30170400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:30168000-30170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr13:30168000-30170400	Active TSS	K562	blood
11	chr13:30168200-30170400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr13:30168200-30170400	Active TSS	Right Ventricle	heart
13	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
16	chr13:30168400-30170400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:30168400-30170400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:30168400-30170400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr13:30168400-30170400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:30168400-30170400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:30168400-30170400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:30168400-30170400	Active TSS	Aorta	Aorta
23	chr13:30168400-30170400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr13:30168400-30170400	Active TSS	Esophagus	oesophagus
25	chr13:30168400-30170400	Active TSS	Fetal Intestine Large	intestine
26	chr13:30168400-30170400	Active TSS	Pancreas	Pancrea
27	chr13:30168400-30170400	Active TSS	NHLF	lung
28	chr13:30168400-30170600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:30168400-30170600	Active TSS	Brain Anterior Caudate	brain
30	chr13:30168400-30170800	Active TSS	Colonic Mucosa	Colon
31	chr13:30168600-30170400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr13:30168600-30170400	Active TSS	Colon Smooth Muscle	Colon
33	chr13:30168600-30170400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr13:30168600-30170400	Active TSS	Right Atrium	heart
35	chr13:30168600-30170600	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr13:30168800-30170400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr13:30168800-30170400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:30168800-30170400	Active TSS	Brain Substantia Nigra	brain
39	chr13:30168800-30170400	Active TSS	Ovary	ovary
40	chr13:30168800-30170400	Active TSS	Rectal Smooth Muscle	rectum
41	chr13:30168800-30170400	Active TSS	NHDF-Ad	bronchial
42	chr13:30168800-30170600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:30168800-30170600	Active TSS	Primary T cells from cord blood	blood
44	chr13:30168800-30170600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:30168800-30170800	Active TSS	Duodenum Mucosa	Duodenum
46	chr13:30169000-30170400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:30169000-30170400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr13:30169000-30170400	Active TSS	Brain Hippocampus Middle	brain
49	chr13:30169000-30170400	Active TSS	HSMMtube	muscle
50	chr13:30169000-30170600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links