Variant report

Variant	rs139044633
Chromosome Location	chrX:56755378-56755379
allele	G/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	POLR2A	chrX:56754711-56756132	GM12891	blood:	n/a	n/a
2	ELF1	chrX:56755374-56755955	HCT-116	colon:	n/a	chrX:56755653-56755664
3	YY1	chrX:56755373-56756089	SK-N-SH	brain:	n/a	chrX:56755714-56755726
4	TBP	chrX:56754734-56756188	Hela-S3	cervix:	n/a	n/a
5	RFX5	chrX:56754788-56756698	Hela-S3	cervix:	n/a	n/a
6	REST	chrX:56755284-56756263	H1-neurons	neurons:	n/a	n/a
7	RCOR1	chrX:56754836-56756120	Hela-S3	cervix:	n/a	n/a
8	E2F4	chrX:56755241-56755597	MCF10A-Er-Src	breast:	n/a	n/a
9	YY1	chrX:56755316-56756236	SK-N-SH	brain:	n/a	chrX:56755714-56755726
10	EGR1	chrX:56755116-56755741	HCT-116	colon:	n/a	chrX:56755620-56755633 chrX:56755388-56755402 chrX:56755392-56755401 chrX:56755386-56755401 chrX:56755391-56755404 chrX:56755391-56755404 chrX:56755387-56755394 chrX:56755386-56755408
11	GABPA	chrX:56755267-56756126	SK-N-SH	brain:	n/a	n/a
12	SP1	chrX:56755174-56756021	HCT-116	colon:	n/a	chrX:56755521-56755531 chrX:56755520-56755532 chrX:56755520-56755532 chrX:56755621-56755635 chrX:56755521-56755530 chrX:56755522-56755531 chrX:56755610-56755624 chrX:56755521-56755531
13	EGR1	chrX:56755299-56755491	GM12878	blood:	n/a	chrX:56755388-56755402 chrX:56755392-56755401 chrX:56755386-56755401 chrX:56755391-56755404 chrX:56755391-56755404 chrX:56755387-56755394 chrX:56755386-56755408
14	MAZ	chrX:56755366-56755811	GM12878	blood:	n/a	n/a
15	EGR1	chrX:56755285-56755436	GM12878	blood:	n/a	chrX:56755388-56755402 chrX:56755392-56755401 chrX:56755386-56755401 chrX:56755391-56755404 chrX:56755391-56755404 chrX:56755387-56755394 chrX:56755386-56755408
16	EGR1	chrX:56755218-56755525	K562	blood:	n/a	chrX:56755388-56755402 chrX:56755392-56755401 chrX:56755386-56755401 chrX:56755391-56755404 chrX:56755391-56755404 chrX:56755387-56755394 chrX:56755386-56755408
17	STAT3	chrX:56755291-56755821	MCF10A-Er-Src	breast:	n/a	chrX:56755608-56755620
18	EP300	chrX:56755378-56755424	K562	blood:	n/a	n/a
19	GABPA	chrX:56755270-56756186	MCF-7	breast:	n/a	n/a
20	MAFK	chrX:56754913-56755815	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:56589521..56592004-chrX:56754888..56757482,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204272	TF binding region
ENSG00000188021	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56754600-56755400	Flanking Active TSS	Dnd41	blood
2	chrX:56754600-56755600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chrX:56754600-56757600	Active TSS	A549	lung
4	chrX:56754600-56757800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chrX:56754800-56755600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chrX:56754800-56757200	Active TSS	Muscle Satellite Cultured Cells	--
7	chrX:56754800-56757200	Active TSS	Brain Angular Gyrus	brain
8	chrX:56754800-56757200	Active TSS	NHDF-Ad	bronchial
9	chrX:56754800-56757400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chrX:56754800-56757400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chrX:56754800-56757400	Active TSS	NH-A	brain
12	chrX:56754800-56757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chrX:56754800-56757600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chrX:56754800-56758600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chrX:56755000-56755800	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chrX:56755000-56755800	Active TSS	Osteobl	bone
17	chrX:56755000-56756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:56755000-56757000	Active TSS	Stomach Smooth Muscle	stomach
19	chrX:56755000-56757200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chrX:56755000-56757200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chrX:56755000-56757400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chrX:56755000-56757400	Active TSS	Brain Anterior Caudate	brain
23	chrX:56755000-56757600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chrX:56755000-56757600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chrX:56755000-56757600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chrX:56755000-56757600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chrX:56755000-56757600	Active TSS	HMEC	breast
28	chrX:56755000-56757800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chrX:56755000-56758200	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chrX:56755000-56758600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chrX:56755200-56755400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chrX:56755200-56755400	Enhancers	Primary B cells from peripheral blood	blood
33	chrX:56755200-56755400	Enhancers	Primary T cells from cord blood	blood
34	chrX:56755200-56755400	Enhancers	Primary hematopoietic stem cells	blood
35	chrX:56755200-56755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chrX:56755200-56755400	Flanking Active TSS	Liver	Liver
37	chrX:56755200-56755400	Flanking Active TSS	Fetal Intestine Small	intestine
38	chrX:56755200-56755400	Flanking Active TSS	Hela-S3	cervix
39	chrX:56755200-56755400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chrX:56755200-56755600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chrX:56755200-56755600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chrX:56755200-56755800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chrX:56755200-56756000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chrX:56755200-56756600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chrX:56755200-56757000	Active TSS	Primary B cells from cord blood	blood
46	chrX:56755200-56757000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chrX:56755200-56757000	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chrX:56755200-56757000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chrX:56755200-56757000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chrX:56755200-56757000	Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links