Variant report

Variant	rs192780346
Chromosome Location	chrX:73639718-73639719
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
2	POLR2A	chrX:73639640-73639860	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chrX:73639599-73641513	H1-hESC	embryonic stem cell:	n/a	chrX:73640768-73640781
4	MXI1	chrX:73639600-73641959	IMR90	lung:	n/a	n/a
5	KAP1	chrX:73639578-73640083	HEK293	kidney:	n/a	n/a
6	POLR2A	chrX:73639582-73641618	H1-neurons	neurons:	n/a	n/a
7	TAF1	chrX:73639675-73640076	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chrX:73639626-73641696	H1-neurons	neurons:	n/a	n/a

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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638800-73643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:73639200-73639800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chrX:73639200-73640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chrX:73639200-73643000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:73639200-73643000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chrX:73639200-73643000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chrX:73639400-73639800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chrX:73639400-73639800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:73639400-73639800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:73639400-73639800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chrX:73639400-73639800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chrX:73639400-73639800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chrX:73639400-73639800	Enhancers	Primary B cells from peripheral blood	blood
14	chrX:73639400-73639800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chrX:73639400-73639800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chrX:73639400-73639800	Enhancers	Liver	Liver
17	chrX:73639400-73639800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chrX:73639400-73639800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chrX:73639400-73639800	Enhancers	Right Atrium	heart
20	chrX:73639400-73639800	Enhancers	Stomach Mucosa	stomach
21	chrX:73639400-73639800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chrX:73639400-73639800	Flanking Active TSS	NHEK	skin
23	chrX:73639400-73640000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chrX:73639400-73640000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chrX:73639400-73640000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chrX:73639400-73640000	Flanking Active TSS	HMEC	breast
27	chrX:73639400-73640200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chrX:73639400-73640200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chrX:73639400-73640200	Enhancers	Spleen	Spleen
30	chrX:73639400-73640200	Flanking Active TSS	NH-A	brain
31	chrX:73639400-73641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:73639400-73641400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chrX:73639400-73642000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chrX:73639400-73642400	Active TSS	A549	lung
35	chrX:73639400-73642800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chrX:73639400-73642800	Active TSS	Pancreas	Pancrea
37	chrX:73639400-73643000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chrX:73639400-73643000	Active TSS	Muscle Satellite Cultured Cells	--
39	chrX:73639400-73643000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chrX:73639400-73643000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chrX:73639400-73643000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chrX:73639400-73643000	Active TSS	NHLF	lung
43	chrX:73639400-73643200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chrX:73639400-73643200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chrX:73639400-73643200	Active TSS	Brain Cingulate Gyrus	brain
46	chrX:73639400-73643200	Active TSS	Fetal Kidney	kidney
47	chrX:73639400-73643200	Active TSS	NHDF-Ad	bronchial
48	chrX:73639400-73643400	Active TSS	H1 Cell Line	embryonic stem cell
49	chrX:73639400-73643400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chrX:73639400-73643400	Active TSS	Brain Germinal Matrix	brain

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