Variant report

Variant	rs184596796
Chromosome Location	chrX:73639475-73639476
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	REST	chrX:73639379-73641880	H1-neurons	neurons:	n/a	chrX:73640771-73640784 chrX:73640477-73640490 chrX:73640477-73640490 chrX:73640219-73640232

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73639433..73642162-chrX:73672444..73675617,3	MCF-7	breast:
2	chrX:73639270..73641033-chrX:73663295..73665992,2	MCF-7	breast:

Variant related genes	Relation type
SLC16A2	TF binding region
ENSG00000264531	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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3429687	chrX:73639127-73643875	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638800-73643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:73639200-73639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:73639200-73639600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chrX:73639200-73639800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
5	chrX:73639200-73640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chrX:73639200-73643000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chrX:73639200-73643000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:73639200-73643000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chrX:73639400-73639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chrX:73639400-73639600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
11	chrX:73639400-73639600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chrX:73639400-73639600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chrX:73639400-73639600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chrX:73639400-73639600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chrX:73639400-73639600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:73639400-73639600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chrX:73639400-73639600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chrX:73639400-73639600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chrX:73639400-73639600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chrX:73639400-73639600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chrX:73639400-73639600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chrX:73639400-73639600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chrX:73639400-73639600	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chrX:73639400-73639600	Active TSS	Brain Anterior Caudate	brain
25	chrX:73639400-73639600	Enhancers	Brain Hippocampus Middle	brain
26	chrX:73639400-73639600	Enhancers	Duodenum Mucosa	Duodenum
27	chrX:73639400-73639600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chrX:73639400-73639600	Enhancers	Fetal Brain Male	brain
29	chrX:73639400-73639600	Flanking Active TSS	Fetal Brain Female	brain
30	chrX:73639400-73639600	Flanking Active TSS	Fetal Heart	heart
31	chrX:73639400-73639600	Enhancers	Fetal Intestine Large	intestine
32	chrX:73639400-73639600	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chrX:73639400-73639600	Flanking Active TSS	Fetal Lung	lung
34	chrX:73639400-73639600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
35	chrX:73639400-73639600	Enhancers	Left Ventricle	heart
36	chrX:73639400-73639600	Enhancers	Ovary	ovary
37	chrX:73639400-73639600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
38	chrX:73639400-73639600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chrX:73639400-73639600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chrX:73639400-73639600	Enhancers	Thymus	Thymus
41	chrX:73639400-73639600	Bivalent Enhancer	HepG2	liver
42	chrX:73639400-73639800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chrX:73639400-73639800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chrX:73639400-73639800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chrX:73639400-73639800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chrX:73639400-73639800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chrX:73639400-73639800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chrX:73639400-73639800	Enhancers	Primary B cells from peripheral blood	blood
49	chrX:73639400-73639800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chrX:73639400-73639800	Enhancers	Primary T helper cells fromperipheralblood	blood

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