Variant report

Variant	rs183066549
Chromosome Location	chrX:139013315-139013316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:138931759..138934021-chrX:139013116..139015222,2	MCF-7	breast:
2	chrX:139011779..139014233-chrX:139015121..139017109,2	MCF-7	breast:
3	chr12:120632818..120635687-chrX:139013169..139015173,2	K562	blood:
4	chrX:139012765..139014914-chrX:139031974..139034930,2	K562	blood:
5	chrX:138956213..138958123-chrX:139012738..139014426,2	MCF-7	breast:
6	chrX:138988048..138990751-chrX:139013105..139014679,2	K562	blood:
7	chrX:138953765..138955836-chrX:139011529..139013687,2	K562	blood:
8	chrX:138906465..138908031-chrX:139012823..139014377,2	MCF-7	breast:
9	chrX:139003050..139005893-chrX:139011125..139013950,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction
ENSG00000101974	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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases
4	esv3365935	chrX:139012861-139016459	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011000-139016000	Active TSS	GM12878-XiMat	blood
2	chrX:139011800-139016800	Active TSS	HepG2	liver
3	chrX:139012000-139013800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chrX:139012000-139016000	Active TSS	NHEK	skin
5	chrX:139012200-139013600	Flanking Active TSS	Dnd41	blood
6	chrX:139012200-139016000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chrX:139012200-139016200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chrX:139012200-139016200	Active TSS	NHDF-Ad	bronchial
9	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chrX:139012200-139016400	Active TSS	NHLF	lung
11	chrX:139012400-139013400	Weak transcription	Gastric	stomach
12	chrX:139012400-139016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chrX:139012600-139013400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chrX:139012600-139013400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chrX:139012600-139013400	Weak transcription	Pancreas	Pancrea
17	chrX:139012600-139013400	Flanking Active TSS	Hela-S3	cervix
18	chrX:139012600-139015800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chrX:139012600-139015800	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chrX:139012600-139016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chrX:139012600-139016000	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chrX:139012800-139013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chrX:139012800-139013400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chrX:139012800-139013400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chrX:139012800-139013400	Active TSS	Fetal Muscle Leg	muscle
27	chrX:139012800-139013400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chrX:139012800-139013600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chrX:139012800-139013600	Active TSS	Brain Germinal Matrix	brain
30	chrX:139012800-139013600	Weak transcription	Spleen	Spleen
31	chrX:139012800-139015600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:139012800-139016000	Active TSS	H1 Cell Line	embryonic stem cell
33	chrX:139012800-139016000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chrX:139012800-139016200	Active TSS	Ovary	ovary
36	chrX:139012800-139016200	Active TSS	Right Atrium	heart
37	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chrX:139012800-139016400	Active TSS	Thymus	Thymus
39	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
40	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chrX:139013000-139013400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chrX:139013000-139013400	Active TSS	Primary B cells from cord blood	blood
43	chrX:139013000-139013400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chrX:139013000-139013600	Active TSS	Fetal Brain Male	brain
45	chrX:139013000-139015400	Active TSS	Stomach Smooth Muscle	stomach
46	chrX:139013000-139015800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chrX:139013000-139015800	Active TSS	Fetal Thymus	thymus
48	chrX:139013000-139015800	Active TSS	HMEC	breast
49	chrX:139013000-139015800	Active TSS	K562	blood
50	chrX:139013000-139015800	Active TSS	NH-A	brain

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