Variant report

Variant	rs60144242
Chromosome Location	chr10:50817071-50817072
allele	A/C
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	REST	chr10:50816582-50817262	HL-60	blood:	n/a	n/a
2	CTBP2	chr10:50816892-50818054	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr10:50816898-50817078	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr10:50817071-50817188	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr10:50816906-50817221	U87	brain:	n/a	n/a
6	SIN3A	chr10:50816945-50817952	H1-hESC	embryonic stem cell:	n/a	chr10:50817601-50817612 chr10:50817286-50817299 chr10:50817279-50817290
7	E2F6	chr10:50816726-50817997	H1-hESC	embryonic stem cell:	n/a	chr10:50817512-50817521 chr10:50817510-50817520
8	MAX	chr10:50816902-50817351	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC18A3	TF binding region
CHAT	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:32 , 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	chr10:50816600-50817200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:50816800-50817200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr10:50816800-50817400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr10:50816800-50817400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:50816800-50817600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:50816800-50817600	Bivalent Enhancer	Placenta	Placenta
13	chr10:50816800-50817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:50816800-50818000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:50817000-50817200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr10:50817000-50817200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr10:50817000-50817200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:50817000-50817200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr10:50817000-50817200	Bivalent Enhancer	Fetal Brain Female	brain
22	chr10:50817000-50817200	Enhancers	Pancreas	Pancrea
23	chr10:50817000-50817200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr10:50817000-50817400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr10:50817000-50817400	Bivalent Enhancer	HMEC	breast
26	chr10:50817000-50817600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:50817000-50817600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:50817000-50817800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr10:50817000-50818000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:50817000-50818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
32	chr10:50817000-50819400	Enhancers	Gastric	stomach

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