Variant report

Variant	rs13440529
Chromosome Location	chrX:65386669-65386670
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:65217855..65221728-chrX:65385868..65390112,4	K562	blood:

Variant related genes	Relation type
ENSG00000237311	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1011526	0.84[CEU][hapmap]
rs1091486	0.84[CEU][hapmap]
rs1264212	0.84[CEU][hapmap]
rs1264216	0.84[CEU][hapmap]
rs1264218	0.86[CEU][hapmap]
rs17301659	0.85[CEU][hapmap]
rs1989028	0.86[CEU][hapmap]
rs2206203	0.84[CEU][hapmap]
rs5964495	0.86[CEU][hapmap]
rs5964499	0.86[CEU][hapmap]
rs5964500	0.84[CEU][hapmap]
rs5965105	0.84[CEU][hapmap]
rs5965106	0.92[CEU][hapmap]
rs5965110	0.84[CEU][hapmap]
rs6624875	0.84[CEU][hapmap]
rs6624876	0.85[CEU][hapmap]
rs7054364	0.84[CEU][hapmap]
rs7062799	0.84[CEU][hapmap]
rs760866	0.86[CEU][hapmap]
rs7891437	0.84[CEU][hapmap]
rs806607	0.84[CEU][hapmap]
rs806608	0.84[CEU][hapmap]
rs806609	0.86[CEU][hapmap]
rs806610	0.84[CEU][hapmap]

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	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv916393	chrX:65269672-65521616	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3350331	chrX:65287003-65495627	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65382200-65387000	Active TSS	K562	blood
2	chrX:65382400-65387200	Active TSS	Fetal Intestine Large	intestine
3	chrX:65382400-65387200	Active TSS	Fetal Intestine Small	intestine
4	chrX:65383600-65442200	Weak transcription	Small Intestine	intestine
5	chrX:65384600-65390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chrX:65384600-65435600	Weak transcription	Left Ventricle	heart
7	chrX:65384800-65387200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chrX:65384800-65392200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chrX:65384800-65395400	Weak transcription	Brain Hippocampus Middle	brain
10	chrX:65385200-65386800	Weak transcription	Aorta	Aorta
11	chrX:65385400-65392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chrX:65385400-65399000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chrX:65385600-65387000	Weak transcription	Fetal Kidney	kidney
14	chrX:65385600-65387000	Weak transcription	Rectal Smooth Muscle	rectum
15	chrX:65385600-65387400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:65385600-65387800	Weak transcription	Colonic Mucosa	Colon
17	chrX:65385600-65390400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chrX:65385600-65392400	Weak transcription	Ovary	ovary
19	chrX:65385600-65393000	Weak transcription	Fetal Lung	lung
20	chrX:65385600-65395000	Weak transcription	Brain Anterior Caudate	brain
21	chrX:65385600-65435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:65385800-65387200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chrX:65385800-65392600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chrX:65386000-65386800	Weak transcription	Duodenum Mucosa	Duodenum
25	chrX:65386000-65387000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chrX:65386000-65387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chrX:65386000-65387400	Weak transcription	Brain Substantia Nigra	brain
28	chrX:65386000-65387600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:65386000-65390800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chrX:65386000-65392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chrX:65386000-65392400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chrX:65386000-65392400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chrX:65386000-65392600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:65386000-65392600	Weak transcription	Stomach Smooth Muscle	stomach
35	chrX:65386000-65393400	Weak transcription	Fetal Stomach	stomach
36	chrX:65386600-65387000	Active TSS	Fetal Heart	heart
37	chrX:65386600-65387200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chrX:65386600-65387400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chrX:65386600-65388000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chrX:65386600-65388200	Enhancers	Colon Smooth Muscle	Colon

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