Variant report

Variant	rs4824921
Chromosome Location	chrX:139013712-139013713
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:138985114..138987559-chrX:139013389..139015006,2	K562	blood:
3	chrX:139011779..139014233-chrX:139015121..139017109,2	MCF-7	breast:
4	chr12:120632818..120635687-chrX:139013169..139015173,2	K562	blood:
5	chrX:139012765..139014914-chrX:139031974..139034930,2	K562	blood:
6	chrX:138956213..138958123-chrX:139012738..139014426,2	MCF-7	breast:
7	chrX:138988048..138990751-chrX:139013105..139014679,2	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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12012817	1.00[YRI][hapmap]
rs17002234	0.90[YRI][hapmap]
rs2485726	0.90[YRI][hapmap]
rs2485730	1.00[YRI][hapmap]
rs2485736	1.00[YRI][hapmap]
rs2491008	1.00[YRI][hapmap]
rs2491012	0.90[YRI][hapmap]
rs2497267	0.90[YRI][hapmap]
rs2497279	1.00[YRI][hapmap]
rs4239992	0.85[YRI][hapmap]
rs5908666	1.00[YRI][hapmap]
rs7061310	1.00[YRI][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	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:126 , 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:139012200-139016000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chrX:139012200-139016200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chrX:139012200-139016200	Active TSS	NHDF-Ad	bronchial
8	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chrX:139012200-139016400	Active TSS	NHLF	lung
10	chrX:139012400-139016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chrX:139012600-139015800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chrX:139012600-139015800	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chrX:139012600-139016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chrX:139012600-139016000	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chrX:139012800-139015600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chrX:139012800-139016000	Active TSS	H1 Cell Line	embryonic stem cell
19	chrX:139012800-139016000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chrX:139012800-139016200	Active TSS	Ovary	ovary
22	chrX:139012800-139016200	Active TSS	Right Atrium	heart
23	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chrX:139012800-139016400	Active TSS	Thymus	Thymus
25	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
26	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chrX:139013000-139015400	Active TSS	Stomach Smooth Muscle	stomach
28	chrX:139013000-139015800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chrX:139013000-139015800	Active TSS	Fetal Thymus	thymus
30	chrX:139013000-139015800	Active TSS	HMEC	breast
31	chrX:139013000-139015800	Active TSS	K562	blood
32	chrX:139013000-139015800	Active TSS	NH-A	brain
33	chrX:139013000-139016000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:139013000-139016000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chrX:139013000-139016000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chrX:139013000-139016000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chrX:139013000-139016200	Active TSS	H9 Cell Line	embryonic stem cell
38	chrX:139013000-139016200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chrX:139013000-139016200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:139013000-139016200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chrX:139013000-139016200	Active TSS	Muscle Satellite Cultured Cells	--
42	chrX:139013000-139016200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chrX:139013000-139016200	Active TSS	Colonic Mucosa	Colon
44	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chrX:139013000-139016400	Active TSS	HSMM	muscle
46	chrX:139013000-139016400	Active TSS	Osteobl	bone
47	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chrX:139013000-139016600	Active TSS	Liver	Liver
49	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
50	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum

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