Variant report

Variant	rs12010760
Chromosome Location	chrX:139016215-139016216
allele	A/G
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	HNF4G	chrX:139016068-139016406	HepG2	liver:	n/a	chrX:139016241-139016256
2	HNF4A	chrX:139016174-139016366	HepG2	liver:	n/a	n/a
3	POLR2A	chrX:139016210-139016503	K562	blood:	n/a	n/a
4	POLR2A	chrX:139013941-139016550	HepG2	liver:	n/a	n/a
5	POLR2A	chrX:139016094-139016419	HepG2	liver:	n/a	n/a
6	SMARCB1	chrX:139013901-139016316	Hela-S3	cervix:	n/a	chrX:139015316-139015325
7	HEY1	chrX:139014919-139016464	HepG2	liver:	n/a	chrX:139015003-139015018
8	MYC	chrX:139012444-139016234	K562	blood:	n/a	chrX:139014278-139014287
9	MYC	chrX:139016157-139016314	HepG2	liver:	n/a	n/a
10	POLR2A	chrX:139016094-139016436	HepG2	liver:	n/a	n/a
11	POLR2A	chrX:139014069-139016403	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chrX:139014140-139016250	HepG2	liver:	n/a	n/a
13	POLR2A	chrX:139014055-139016514	HepG2	liver:	n/a	n/a
14	TBP	chrX:139016120-139016386	HepG2	liver:	n/a	n/a
15	HNF4A	chrX:139016102-139016364	HepG2	liver:	n/a	n/a
16	HEY1	chrX:139016082-139016436	HepG2	liver:	n/a	n/a
17	POLR2A	chrX:139013988-139016392	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chrX:139016157-139016375	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:139003030..139006775-chrX:139014135..139016470,3	MCF-7	breast:
2	chrX:138772808..138775259-chrX:139014635..139016368,2	MCF-7	breast:
3	chrX:138909179..138912021-chrX:139015740..139017279,2	K562	blood:

Variant related genes	Relation type
ATP11C	TF binding region
ENSG00000101977	Chromatin interaction
ENSG00000207633	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases
4	esv3365935	chrX:139012861-139016459	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011800-139016800	Active TSS	HepG2	liver
2	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chrX:139012200-139016400	Active TSS	NHLF	lung
4	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chrX:139012800-139016400	Active TSS	Thymus	Thymus
7	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
8	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
9	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chrX:139013000-139016400	Active TSS	HSMM	muscle
11	chrX:139013000-139016400	Active TSS	Osteobl	bone
12	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chrX:139013000-139016600	Active TSS	Liver	Liver
14	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
15	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
16	chrX:139013000-139016600	Active TSS	A549	lung
17	chrX:139013200-139016400	Active TSS	Psoas Muscle	Psoas
18	chrX:139013200-139016400	Active TSS	Stomach Mucosa	stomach
19	chrX:139013400-139016400	Active TSS	Pancreas	Pancrea
20	chrX:139013400-139016600	Active TSS	Duodenum Mucosa	Duodenum
21	chrX:139014200-139016600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chrX:139014600-139016400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chrX:139015400-139016400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chrX:139015400-139016400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chrX:139015600-139016400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chrX:139015800-139016400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chrX:139015800-139016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chrX:139015800-139016400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chrX:139015800-139016400	Flanking Active TSS	Dnd41	blood
30	chrX:139015800-139016400	Flanking Active TSS	Hela-S3	cervix
31	chrX:139015800-139016400	Flanking Active TSS	NH-A	brain
32	chrX:139015800-139018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chrX:139016000-139016400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chrX:139016000-139016400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chrX:139016000-139016400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chrX:139016000-139016400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chrX:139016000-139016400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chrX:139016000-139016400	Enhancers	Brain Angular Gyrus	brain
39	chrX:139016000-139016400	Bivalent Enhancer	Fetal Lung	lung
40	chrX:139016200-139016400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chrX:139016200-139016400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chrX:139016200-139016400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chrX:139016200-139016400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chrX:139016200-139016400	Enhancers	Muscle Satellite Cultured Cells	--
45	chrX:139016200-139016400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chrX:139016200-139016400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chrX:139016200-139016400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chrX:139016200-139016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chrX:139016200-139016400	Enhancers	Adipose Nuclei	Adipose
50	chrX:139016200-139016400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon

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