Variant report

Variant	rs4892491
Chromosome Location	chrX:73422412-73422413
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	POLR2A	chrX:73422091-73422965	HepG2	liver:	n/a	n/a
2	POLR2A	chrX:73422397-73424090	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73419504..73422436-chrX:73510769..73513232,2	MCF-7	breast:

Variant related genes	Relation type
RAB11FIP1P1	TF binding region
ENSG00000230590	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1151599	1.00[CHB][hapmap]
rs1151602	1.00[CHB][hapmap]
rs1341326	1.00[CHB][hapmap]
rs174164	0.82[CHB][hapmap]
rs2066449	1.00[CHB][hapmap]
rs5981258	1.00[CHB][hapmap]
rs5981589	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs5981594	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs5981595	0.82[CHB][hapmap]
rs604174	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6607463	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap]
rs6647038	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs6647445	1.00[CHB][hapmap]
rs6647446	1.00[CHB][hapmap]
rs6647448	1.00[CHB][hapmap]
rs6647454	1.00[CHB][hapmap]
rs6655556	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3439689	chrX:73355891-73478378	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	217 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4892491	NCRNA00183	cis	brain	BrainEAC

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73412200-73422600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chrX:73413400-73428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chrX:73413600-73423200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chrX:73413800-73474000	Weak transcription	NHLF	lung
5	chrX:73414000-73422600	Weak transcription	HepG2	liver
6	chrX:73414200-73422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chrX:73414200-73426600	Weak transcription	HSMM	muscle
8	chrX:73414600-73458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chrX:73415400-73422600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chrX:73415400-73422600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chrX:73415400-73427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chrX:73415400-73462400	Weak transcription	Gastric	stomach
13	chrX:73415600-73422800	Weak transcription	Left Ventricle	heart
14	chrX:73415600-73427200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chrX:73415800-73422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chrX:73415800-73422600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chrX:73415800-73422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chrX:73415800-73422600	Weak transcription	Aorta	Aorta
19	chrX:73415800-73422600	Weak transcription	Fetal Stomach	stomach
20	chrX:73416200-73437200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chrX:73417200-73423000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chrX:73417200-73427000	Weak transcription	HUVEC	blood vessel
23	chrX:73418200-73434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chrX:73419200-73422600	Weak transcription	Fetal Intestine Large	intestine
25	chrX:73419400-73422600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chrX:73419600-73422600	Weak transcription	Ovary	ovary
27	chrX:73420000-73462800	Weak transcription	NHDF-Ad	bronchial
28	chrX:73420200-73422600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chrX:73420200-73445400	Weak transcription	GM12878-XiMat	blood
30	chrX:73420400-73426200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chrX:73420600-73426400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chrX:73420800-73422600	Weak transcription	Duodenum Mucosa	Duodenum
33	chrX:73420800-73434400	Weak transcription	Esophagus	oesophagus
34	chrX:73421000-73422600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chrX:73421000-73422600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chrX:73421000-73422600	Weak transcription	HSMMtube	muscle
37	chrX:73421000-73423400	Weak transcription	Fetal Brain Female	brain
38	chrX:73421000-73429000	Weak transcription	Thymus	Thymus
39	chrX:73421000-73434400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chrX:73421000-73435600	Weak transcription	Primary T cells from cord blood	blood
41	chrX:73421000-73436000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chrX:73421000-73436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chrX:73421000-73444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chrX:73421000-73461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chrX:73421000-73479600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chrX:73421200-73425200	Weak transcription	Dnd41	blood
47	chrX:73421200-73434200	Weak transcription	Primary B cells from cord blood	blood
48	chrX:73421200-73435200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chrX:73421200-73459800	Weak transcription	NH-A	brain
50	chrX:73421400-73423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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