Variant report

Variant	rs192740262
Chromosome Location	chrX:110187404-110187405
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	MXI1	chrX:110187158-110188893	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chrX:110187398-110188813	H1-neurons	neurons:	n/a	n/a
3	REST	chrX:110187223-110188959	H1-neurons	neurons:	n/a	chrX:110187594-110187607 chrX:110188272-110188282 chrX:110187276-110187285 chrX:110187592-110187602 chrX:110187882-110187892
4	MAX	chrX:110187394-110187989	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chrX:110187384-110188767	H1-neurons	neurons:	n/a	n/a
6	E2F6	chrX:110187344-110187843	H1-hESC	embryonic stem cell:	n/a	chrX:110187385-110187397
7	TAF1	chrX:110187370-110188497	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chrX:110187312-110188646	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PAK3	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817233	chrX:109693720-110244649	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv432353	chrX:110098562-110188612	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	nsv933069	chrX:110117241-110257564	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532899	chrX:110117241-110419226	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv428712	chrX:110184832-110358638	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:110182600-110187600	Weak transcription	Gastric	stomach
2	chrX:110182600-110188600	Weak transcription	Stomach Mucosa	stomach
3	chrX:110187000-110188400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chrX:110187000-110188600	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chrX:110187000-110188800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chrX:110187000-110189800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chrX:110187000-110190200	Active TSS	Brain Germinal Matrix	brain
8	chrX:110187200-110188200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chrX:110187200-110188400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chrX:110187200-110188400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chrX:110187200-110188600	Active TSS	NH-A	brain
12	chrX:110187200-110188800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chrX:110187200-110188800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chrX:110187200-110189000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chrX:110187200-110189000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chrX:110187400-110187600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chrX:110187400-110187600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chrX:110187400-110187600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chrX:110187400-110187600	Active TSS	Brain Hippocampus Middle	brain
20	chrX:110187400-110187600	Bivalent/Poised TSS	HMEC	breast
21	chrX:110187400-110188000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chrX:110187400-110188000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chrX:110187400-110188000	Active TSS	Esophagus	oesophagus
24	chrX:110187400-110188000	Bivalent Enhancer	Placenta	Placenta
25	chrX:110187400-110188200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chrX:110187400-110188200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chrX:110187400-110188400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chrX:110187400-110188400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chrX:110187400-110188400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chrX:110187400-110188400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chrX:110187400-110188400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chrX:110187400-110188400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chrX:110187400-110188400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chrX:110187400-110188400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chrX:110187400-110188400	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chrX:110187400-110188600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chrX:110187400-110188600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chrX:110187400-110188600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chrX:110187400-110188600	Active TSS	Brain Substantia Nigra	brain
40	chrX:110187400-110188600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chrX:110187400-110188800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chrX:110187400-110188800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chrX:110187400-110188800	Active TSS	Brain Anterior Caudate	brain
44	chrX:110187400-110188800	Active TSS	Brain Cingulate Gyrus	brain
45	chrX:110187400-110188800	Active TSS	Pancreas	Pancrea
46	chrX:110187400-110189000	Active TSS	H9 Cell Line	embryonic stem cell
47	chrX:110187400-110189000	Active TSS	Brain Angular Gyrus	brain

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