Variant report

Variant	rs187788120
Chromosome Location	chrX:56758494-56758495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:56754417..56757216-chrX:56757629..56759617,2	MCF-7	breast:
2	chrX:56755952..56758658-chrX:56787740..56790221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204272	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2756104	chrX:56292362-56824154	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv2754937	chrX:56482424-56851953	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv3362942	chrX:56719980-56761482	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2758569	chrX:56739069-56887748	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2758867	chrX:56739069-56887748	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv527262	chrX:56758231-56774826	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56754800-56758600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:56755000-56758600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:56755200-56758600	Active TSS	GM12878-XiMat	blood
4	chrX:56756000-56780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chrX:56757000-56764600	Weak transcription	Pancreas	Pancrea
6	chrX:56757000-56764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chrX:56757000-56765000	Weak transcription	Placenta	Placenta
8	chrX:56757000-56766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:56757200-56759800	Weak transcription	Osteobl	bone
10	chrX:56757200-56761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chrX:56757200-56764800	Weak transcription	Liver	Liver
12	chrX:56757200-56764800	Weak transcription	Fetal Intestine Small	intestine
13	chrX:56757200-56764800	Weak transcription	Left Ventricle	heart
14	chrX:56757200-56765000	Weak transcription	Brain Angular Gyrus	brain
15	chrX:56757200-56765000	Weak transcription	HSMMtube	muscle
16	chrX:56757200-56766600	Weak transcription	Thymus	Thymus
17	chrX:56757200-56769200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chrX:56757200-56773800	Weak transcription	HSMM	muscle
19	chrX:56757200-56775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chrX:56757200-56777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chrX:56757400-56758600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chrX:56757400-56758600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chrX:56757400-56759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chrX:56757400-56761200	Weak transcription	Duodenum Mucosa	Duodenum
25	chrX:56757400-56764800	Weak transcription	Brain Substantia Nigra	brain
26	chrX:56757400-56768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chrX:56757400-56771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chrX:56757400-56779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chrX:56757400-56788000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chrX:56757400-56791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chrX:56757400-56793200	Weak transcription	NH-A	brain
32	chrX:56757400-56793400	Weak transcription	Fetal Intestine Large	intestine
33	chrX:56757600-56758800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chrX:56757600-56759800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chrX:56757600-56760200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chrX:56757600-56760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chrX:56757600-56762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chrX:56757600-56762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chrX:56757600-56763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chrX:56757600-56764200	Weak transcription	Primary hematopoietic stem cells	blood
41	chrX:56757600-56764600	Weak transcription	HMEC	breast
42	chrX:56757600-56765000	Weak transcription	Brain Cingulate Gyrus	brain
43	chrX:56757600-56766600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chrX:56757600-56767600	Weak transcription	A549	lung
45	chrX:56757600-56767800	Weak transcription	Primary B cells from cord blood	blood
46	chrX:56757600-56779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chrX:56757600-56800000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chrX:56757800-56759400	Enhancers	Primary T cells from cord blood	blood
49	chrX:56757800-56759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chrX:56757800-56759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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