Variant report

Variant	rs113036712
Chromosome Location	chrX:138915014-138915015
allele	C/T
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	KAP1	chrX:138914061-138915372	U2OS	brain:	n/a	n/a
2	GATA3	chrX:138914957-138915435	SK-N-SH	brain:	n/a	chrX:138915179-138915186 chrX:138915179-138915186 chrX:138915177-138915187 chrX:138915179-138915186 chrX:138915172-138915193 chrX:138915174-138915190
3	TCF7L2	chrX:138915004-138915364	PANC-1	pancreas:	n/a	n/a
4	KAP1	chrX:138914112-138915543	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ATP11C	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138855000-138915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chrX:138869000-138915600	Weak transcription	Fetal Stomach	stomach
3	chrX:138900200-138915200	Weak transcription	Brain Germinal Matrix	brain
4	chrX:138907000-138916800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chrX:138907200-138916000	Enhancers	Liver	Liver
6	chrX:138908200-138917000	Weak transcription	K562	blood
7	chrX:138909800-138923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chrX:138910200-138915200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chrX:138910600-138915600	Weak transcription	Fetal Intestine Small	intestine
10	chrX:138910600-138916400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chrX:138910800-138915600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chrX:138912200-138915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:138912400-138915400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chrX:138912600-138915200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chrX:138912600-138915600	Enhancers	Osteobl	bone
16	chrX:138912800-138915600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chrX:138913000-138915200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chrX:138913200-138915600	Enhancers	NHLF	lung
19	chrX:138913200-138915800	Enhancers	HUVEC	blood vessel
20	chrX:138913600-138915200	Enhancers	Fetal Kidney	kidney
21	chrX:138913800-138915800	Weak transcription	Pancreas	Pancrea
22	chrX:138914200-138915200	Enhancers	A549	lung
23	chrX:138914200-138915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chrX:138914400-138917200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chrX:138914400-138931800	Weak transcription	Primary T cells from cord blood	blood
26	chrX:138914600-138915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chrX:138914600-138915600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chrX:138914600-138916800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chrX:138914600-138916800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chrX:138914600-138918800	Weak transcription	HMEC	breast
31	chrX:138914600-138926400	Weak transcription	Primary B cells from peripheral blood	blood
32	chrX:138914600-138934400	Weak transcription	Primary hematopoietic stem cells	blood
33	chrX:138914800-138915200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chrX:138914800-138915200	Weak transcription	NH-A	brain
35	chrX:138914800-138915600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chrX:138915000-138915200	Enhancers	Colon Smooth Muscle	Colon
37	chrX:138915000-138915800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chrX:138915000-138916200	Weak transcription	GM12878-XiMat	blood
39	chrX:138915000-138916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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