Variant report

Variant	rs145531113
Chromosome Location	chr7:19815310-19815311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:19815244-19815629	HCT-116	colon:	n/a	chr7:19815404-19815423
2	CTCF	chr7:19815260-19815410	RPTEC	kidney:	n/a	n/a
3	CTCF	chr7:19815300-19815450	RPTEC	kidney:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
4	CTCF	chr7:19815280-19815430	BE2_C	brain:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
5	CTCF	chr7:19815300-19815450	HCPEpiC	choroid plexus:	n/a	chr7:19815401-19815422 chr7:19815406-19815424
6	CTCF	chr7:19815260-19815410	HPAF	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19815309-19815359	U87	brain:	n/a
2	chr7:19815309-19815359	CMK	blood:	n/a
3	chr7:19815309-19815359	HUVEC	blood vessel:	n/a
4	chr7:19815309-19815359	NHDF-neo	bronchial:	n/a
5	chr7:19815309-19815359	K562	blood:	n/a
6	chr7:19815309-19815359	NHBE	bronchial:	n/a
7	chr7:19815309-19815359	Hepatocyte	liver:	n/a
8	chr7:19815309-19815359	ECC-1	luminal epithelium:	n/a
9	chr7:19815309-19815359	AG04450	lung:	fetal
10	chr7:19815309-19815359	SK-N-SH_RA	brain:	n/a
11	chr7:19815309-19815359	GM12892	blood:	n/a
12	chr7:19815309-19815359	HEEpiC	esophagus:	n/a
13	chr7:19815309-19815359	ProgFib	skin:	n/a
14	chr7:19815309-19815359	HCM	heart:	n/a
15	chr7:19815309-19815359	T-47D	breast:	n/a
16	chr7:19815309-19815359	SK-N-MC	brain:	n/a
17	chr7:19815309-19815359	AG09319	gingival:	n/a
18	chr7:19815309-19815359	A549	lung:	n/a
19	chr7:19815309-19815359	RPTEC	kidney:	n/a
20	chr7:19815309-19815359	HCT-116	colon:	n/a
21	chr7:19815309-19815359	LNCaP	prostate:	n/a
22	chr7:19815309-19815359	IMR90	lung:	fetal
23	chr7:19815309-19815359	HRPEpiC	eye:	n/a
24	chr7:19815309-19815359	HCF	heart:	n/a
25	chr7:19815309-19815359	PrEC	prostate:	n/a
26	chr7:19815309-19815359	HRCEpiC	kidney:	n/a
27	chr7:19815309-19815359	SKMC	muscle:	n/a
28	chr7:19815309-19815359	GM12891	blood:	n/a
29	chr7:19815309-19815359	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:19815309-19815359	NT2-D1	testis:	n/a
31	chr7:19815309-19815359	SK-N-SH	brain:	n/a
32	chr7:19815309-19815359	PFSK-1	brain:	n/a
33	chr7:19815309-19815359	HMEC	breast:	n/a
34	chr7:19815309-19815359	HEK293	kidney:	embryo
35	chr7:19815309-19815359	Caco-2	colon:	n/a
36	chr7:19815309-19815359	HepG2	liver:	n/a
37	chr7:19815309-19815359	AG09309	skin:	n/a
38	chr7:19815309-19815359	AoSMC	blood vessel:	n/a
39	chr7:19815309-19815359	H1-hESC	embryonic stem cell:	embryo
40	chr7:19815309-19815359	SAEC	small airway:	n/a
41	chr7:19815309-19815359	PANC-1	pancreas:	n/a
42	chr7:19815309-19815359	MCF10A-Er-Src	breast:	n/a
43	chr7:19815309-19815359	NB4	blood:	n/a
44	chr7:19815309-19815359	HNPCEpiC	eye:	n/a
45	chr7:19815309-19815359	AG04449	skin:	fetal
46	chr7:19815309-19815359	GM06990	blood:	n/a
47	chr7:19815309-19815359	GM12878	blood:	n/a
48	chr7:19815309-19815359	Hela-S3	cervix:	n/a
49	chr7:19815309-19815359	HAEpiC	amniotic membrane:	n/a
50	chr7:19815309-19815359	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19814760..19817027-chr7:19818630..19820862,2	K562	blood:

No data

Variant related genes	Relation type
TMEM196	TF binding region
TMEM196	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv971524	chr7:19814693-19827964	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19814800-19815600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links