Variant report

Variant	rs5945433
Chromosome Location	chrX:153714030-153714031
allele	G/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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153644453..153647083-chrX:153713946..153716046,3	MCF-7	breast:
2	chrX:153711098..153721097-chrX:153740825..153747830,28	MCF-7	breast:
3	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
4	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
5	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
6	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
7	chrX:153671368..153673500-chrX:153711760..153714684,2	K562	blood:
8	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
9	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
10	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
11	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
12	chrX:153697571..153703616-chrX:153709529..153715825,8	MCF-7	breast:
13	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
14	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
15	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
16	chrX:153639142..153641724-chrX:153713465..153715375,4	MCF-7	breast:
17	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
18	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
19	chrX:153674318..153677222-chrX:153712203..153714813,3	K562	blood:
20	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
21	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
22	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
23	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
24	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
25	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
26	chrX:153576705..153579564-chrX:153713461..153716046,2	MCF-7	breast:
27	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
28	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
29	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
30	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
31	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
32	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264484	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000264783	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1050047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12392447	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2071429	0.82[CEU][hapmap]
rs2315325	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2472393	0.82[CEU][hapmap]
rs4542114	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4898389	0.82[CEU][hapmap]
rs5945100	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs5945195	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs5945429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5945431	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs5945434	1.00[CHB][hapmap]
rs5986979	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5986981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5987266	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5987267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7051615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7057286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7886727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153707200-153714200	Weak transcription	Ovary	ovary
2	chrX:153707600-153714200	Weak transcription	Small Intestine	intestine
3	chrX:153710200-153719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chrX:153711400-153714200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chrX:153711400-153718600	ZNF genes & repeats	Fetal Stomach	stomach
6	chrX:153711800-153714200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chrX:153711800-153714200	Enhancers	Liver	Liver
8	chrX:153712400-153714200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chrX:153712400-153714400	Enhancers	Placenta Amnion	Placenta Amnion
10	chrX:153712600-153714200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chrX:153712600-153714200	Genic enhancers	Spleen	Spleen
12	chrX:153712600-153714400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chrX:153712600-153714400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chrX:153712600-153714600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chrX:153712800-153714200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chrX:153712800-153714400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chrX:153713000-153714200	Enhancers	HUVEC	blood vessel
18	chrX:153713000-153714400	Enhancers	Primary hematopoietic stem cells	blood
19	chrX:153713200-153714200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chrX:153713200-153714400	Enhancers	Primary B cells from cord blood	blood
21	chrX:153713200-153714400	Enhancers	Fetal Brain Male	brain
22	chrX:153713200-153714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chrX:153713400-153714200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chrX:153713400-153714200	Weak transcription	Aorta	Aorta
25	chrX:153713400-153714200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chrX:153713400-153714200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chrX:153713400-153715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chrX:153713600-153714200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chrX:153713600-153714200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chrX:153713600-153714200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chrX:153713600-153714200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chrX:153713600-153714200	Transcr. at gene 5' and 3'	A549	lung
33	chrX:153713600-153714200	Flanking Active TSS	GM12878-XiMat	blood
34	chrX:153713600-153714400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chrX:153713600-153714400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chrX:153713600-153714600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chrX:153713800-153714200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chrX:153713800-153714200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
39	chrX:153713800-153714200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:153713800-153714200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chrX:153713800-153714200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chrX:153713800-153714200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chrX:153713800-153714200	Flanking Active TSS	Colonic Mucosa	Colon
44	chrX:153713800-153714200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
45	chrX:153713800-153714200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chrX:153713800-153714200	Weak transcription	Gastric	stomach
47	chrX:153713800-153714200	Transcr. at gene 5' and 3'	Lung	lung
48	chrX:153713800-153714200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chrX:153713800-153714200	Flanking Active TSS	NHLF	lung
50	chrX:153713800-153714200	Flanking Active TSS	Osteobl	bone

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