Variant report

Variant	rs7903315
Chromosome Location	chr10:50822192-50822193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50822175-50822225	HRE	kidney:	n/a
2	chr10:50822158-50822208	IMR90	lung:	fetal
3	chr10:50822175-50822225	MCF-7	breast:	n/a
4	chr10:50822175-50822225	GM12891	blood:	n/a
5	chr10:50822158-50822208	GM12892	blood:	n/a
6	chr10:50822158-50822208	NH-A	brain:	n/a
7	chr10:50822158-50822208	NHDF-neo	bronchial:	n/a
8	chr10:50822175-50822225	AG04449	skin:	fetal
9	chr10:50822158-50822208	HIPEpiC	eye:	n/a
10	chr10:50822158-50822208	Jurkat	blood:	n/a
11	chr10:50822158-50822208	HNPCEpiC	eye:	n/a
12	chr10:50822158-50822208	K562	blood:	n/a
13	chr10:50822175-50822225	HEK293	kidney:	embryo
14	chr10:50822175-50822225	HCF	heart:	n/a
15	chr10:50822175-50822225	U87	brain:	n/a
16	chr10:50822175-50822225	Jurkat	blood:	n/a
17	chr10:50822175-50822225	SK-N-SH_RA	brain:	n/a
18	chr10:50822175-50822225	HIPEpiC	eye:	n/a
19	chr10:50822175-50822225	GM19239	blood:	n/a
20	chr10:50822175-50822225	HCPEpiC	choroid plexus:	n/a
21	chr10:50822175-50822225	SK-N-MC	brain:	n/a
22	chr10:50822158-50822208	HCPEpiC	choroid plexus:	n/a
23	chr10:50822175-50822225	AG10803	skin:	n/a
24	chr10:50822158-50822208	GM12878	blood:	n/a
25	chr10:50822175-50822225	BE2_C	brain:	n/a
26	chr10:50822175-50822225	LNCaP	prostate:	n/a
27	chr10:50822175-50822225	H1-hESC	embryonic stem cell:	embryo
28	chr10:50822175-50822225	NH-A	brain:	n/a
29	chr10:50822158-50822208	MCF10A-Er-Src	breast:	n/a
30	chr10:50822158-50822208	NHBE	bronchial:	n/a
31	chr10:50822175-50822225	ProgFib	skin:	n/a
32	chr10:50822175-50822225	HUVEC	blood vessel:	n/a
33	chr10:50822175-50822225	GM06990	blood:	n/a
34	chr10:50822158-50822208	Hepatocyte	liver:	n/a
35	chr10:50822158-50822208	HMEC	breast:	n/a
36	chr10:50822158-50822208	NB4	blood:	n/a
37	chr10:50822158-50822208	HCF	heart:	n/a
38	chr10:50822158-50822208	ProgFib	skin:	n/a
39	chr10:50822175-50822225	HCM	heart:	n/a
40	chr10:50822175-50822225	T-47D	breast:	n/a
41	chr10:50822175-50822225	PrEC	prostate:	n/a
42	chr10:50822158-50822208	GM19239	blood:	n/a
43	chr10:50822175-50822225	NT2-D1	testis:	n/a
44	chr10:50822158-50822208	H1-hESC	embryonic stem cell:	embryo
45	chr10:50822175-50822225	SK-N-SH	brain:	n/a
46	chr10:50822158-50822208	GM12891	blood:	n/a
47	chr10:50822175-50822225	HepG2	liver:	n/a
48	chr10:50822158-50822208	GM06990	blood:	n/a
49	chr10:50822175-50822225	HEEpiC	esophagus:	n/a
50	chr10:50822175-50822225	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:
2	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:

No data

Variant related genes	Relation type
CHAT	TF binding region
CHAT	CpG island
ENSG00000187714	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10857518	0.96[JPT][hapmap]
rs3729496	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810947	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
2	chr10:50818400-50822400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr10:50819400-50823000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr10:50819600-50822200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr10:50820200-50822400	Weak transcription	Right Atrium	heart
6	chr10:50821000-50822200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:50821000-50822400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr10:50821200-50822800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr10:50821400-50822200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50821400-50822800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr10:50821400-50822800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:50821600-50822600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr10:50821600-50822800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:50821600-50824000	Bivalent/Poised TSS	Placenta	Placenta
18	chr10:50821800-50822200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:50821800-50822800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr10:50821800-50823000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr10:50822000-50822200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr10:50822000-50822200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:50822000-50822200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:50822000-50822200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr10:50822000-50822200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr10:50822000-50822200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr10:50822000-50822400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr10:50822000-50822400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:50822000-50822600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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