Variant report

Variant	rs565239242
Chromosome Location	chr10:50817348-50817349
allele	A/C
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	CTBP2	chr10:50816892-50818054	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr10:50817083-50818611	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
3	ZBTB7A	chr10:50817093-50818703	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
4	SIN3A	chr10:50816945-50817952	H1-hESC	embryonic stem cell:	n/a	chr10:50817601-50817612 chr10:50817286-50817299 chr10:50817279-50817290
5	E2F6	chr10:50816726-50817997	H1-hESC	embryonic stem cell:	n/a	chr10:50817512-50817521 chr10:50817510-50817520
6	MAX	chr10:50816902-50817351	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50817306-50817356	T-47D	breast:	n/a
2	chr10:50817306-50817356	PFSK-1	brain:	n/a
3	chr10:50817306-50817356	ProgFib	skin:	n/a
4	chr10:50817306-50817356	HRE	kidney:	n/a
5	chr10:50817306-50817356	K562	blood:	n/a
6	chr10:50817306-50817356	SK-N-SH_RA	brain:	n/a
7	chr10:50817306-50817356	AG04450	lung:	fetal
8	chr10:50817306-50817356	MCF10A-Er-Src	breast:	n/a
9	chr10:50817306-50817356	MCF-7	breast:	n/a
10	chr10:50817306-50817356	AG04449	skin:	fetal
11	chr10:50817306-50817356	NB4	blood:	n/a
12	chr10:50817306-50817356	HCF	heart:	n/a
13	chr10:50817306-50817356	ovcar-3	ovarian:	n/a
14	chr10:50817306-50817356	HNPCEpiC	eye:	n/a
15	chr10:50817306-50817356	PrEC	prostate:	n/a
16	chr10:50817306-50817356	GM12878	blood:	n/a
17	chr10:50817306-50817356	GM19239	blood:	n/a
18	chr10:50817306-50817356	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:50817306-50817356	LNCaP	prostate:	n/a
20	chr10:50817306-50817356	ECC-1	luminal epithelium:	n/a
21	chr10:50817306-50817356	A549	lung:	n/a
22	chr10:50817306-50817356	IMR90	lung:	fetal
23	chr10:50817306-50817356	HCT-116	colon:	n/a
24	chr10:50817306-50817356	HMEC	breast:	n/a
25	chr10:50817306-50817356	HCPEpiC	choroid plexus:	n/a
26	chr10:50817306-50817356	HL-60	blood:	n/a
27	chr10:50817306-50817356	AG09319	gingival:	n/a
28	chr10:50817306-50817356	BE2_C	brain:	n/a
29	chr10:50817306-50817356	GM06990	blood:	n/a
30	chr10:50817306-50817356	AoSMC	blood vessel:	n/a
31	chr10:50817306-50817356	NH-A	brain:	n/a
32	chr10:50817306-50817356	HRPEpiC	eye:	n/a
33	chr10:50817306-50817356	BJ	skin:	n/a
34	chr10:50817306-50817356	AG10803	skin:	n/a
35	chr10:50817306-50817356	HAEpiC	amniotic membrane:	n/a
36	chr10:50817306-50817356	SK-N-MC	brain:	n/a
37	chr10:50817306-50817356	HUVEC	blood vessel:	n/a
38	chr10:50817306-50817356	Hela-S3	cervix:	n/a
39	chr10:50817306-50817356	HCM	heart:	n/a
40	chr10:50817306-50817356	CMK	blood:	n/a
41	chr10:50817306-50817356	SK-N-SH	brain:	n/a
42	chr10:50817306-50817356	NT2-D1	testis:	n/a
43	chr10:50817306-50817356	HRCEpiC	kidney:	n/a
44	chr10:50817306-50817356	Caco-2	colon:	n/a
45	chr10:50817306-50817356	NHDF-neo	bronchial:	n/a
46	chr10:50817306-50817356	PANC-1	pancreas:	n/a
47	chr10:50817306-50817356	GM12891	blood:	n/a
48	chr10:50817306-50817356	RPTEC	kidney:	n/a
49	chr10:50817306-50817356	Hepatocyte	liver:	n/a
50	chr10:50817306-50817356	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:

No data

Variant related genes	Relation type
SLC18A3	TF binding region
CHAT	TF binding region
CHAT	CpG island
SLC18A3	CpG island
ENSG00000070748	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3410105	chr10:50816971-50819819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50815200-50818000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:50815600-50817400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr10:50816800-50817400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:50816800-50817600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:50816800-50817600	Bivalent Enhancer	Placenta	Placenta
11	chr10:50816800-50817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:50816800-50818000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:50817000-50817400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr10:50817000-50817400	Bivalent Enhancer	HMEC	breast
17	chr10:50817000-50817600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:50817000-50817600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:50817000-50817800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr10:50817000-50818000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:50817000-50818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
23	chr10:50817000-50819400	Enhancers	Gastric	stomach
24	chr10:50817200-50817400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:50817200-50817400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr10:50817200-50817400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr10:50817200-50817400	Bivalent Enhancer	Right Ventricle	heart
28	chr10:50817200-50817600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr10:50817200-50817600	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr10:50817200-50817600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr10:50817200-50817600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr10:50817200-50817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:50817200-50817800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr10:50817200-50817800	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr10:50817200-50817800	Weak transcription	Pancreas	Pancrea
36	chr10:50817200-50818000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr10:50817200-50818000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr10:50817200-50818800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:50817200-50820000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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