Variant report

Variant	rs598251
Chromosome Location	chrX:44845061-44845062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11752704	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1328720	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1328721	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1743772	0.93[EUR][1000 genomes]
rs1967451	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2067088	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2094596	0.88[AMR][1000 genomes]
rs2183069	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2437277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2572998	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2573016	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2573027	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2770313	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2770314	0.88[AMR][1000 genomes]
rs585831	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6913031	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs913542	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs928029	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv932203	chrX:44448345-45002364	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv432325	chrX:44639646-45304546	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:44813200-44854800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chrX:44823200-44848000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:44823400-44847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chrX:44824600-44848200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:44825400-44848200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chrX:44825800-44873800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chrX:44826000-44848200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chrX:44828200-44855400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chrX:44830400-44855400	Weak transcription	Duodenum Mucosa	Duodenum
10	chrX:44831400-44856600	Weak transcription	Rectal Smooth Muscle	rectum
11	chrX:44834400-44852200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chrX:44834600-44848800	Weak transcription	Hela-S3	cervix
13	chrX:44835200-44856200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chrX:44835400-44847400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chrX:44835400-44847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chrX:44835400-44848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chrX:44835400-44848200	Weak transcription	Placenta	Placenta
18	chrX:44835400-44848200	Weak transcription	Fetal Thymus	thymus
19	chrX:44835400-44848200	Weak transcription	Ovary	ovary
20	chrX:44835400-44855600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chrX:44835400-44856400	Weak transcription	Thymus	Thymus
22	chrX:44835400-44860000	Weak transcription	NHEK	skin
23	chrX:44835600-44856200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chrX:44836200-44860600	Weak transcription	Fetal Kidney	kidney
25	chrX:44836400-44856400	Weak transcription	Primary hematopoietic stem cells	blood
26	chrX:44836400-44860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chrX:44836600-44848200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chrX:44836600-44853600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chrX:44836600-44856000	Weak transcription	Liver	Liver
30	chrX:44836800-44847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chrX:44836800-44848000	Weak transcription	Fetal Intestine Small	intestine
32	chrX:44836800-44856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chrX:44836800-44857400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chrX:44836800-44865200	Weak transcription	Fetal Intestine Large	intestine
35	chrX:44837200-44856600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chrX:44837400-44847400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chrX:44837400-44879800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chrX:44838400-44855800	Weak transcription	Primary T cells from cord blood	blood
39	chrX:44840600-44854200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chrX:44841000-44854400	Weak transcription	Primary B cells from peripheral blood	blood
41	chrX:44841200-44847400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chrX:44841200-44855400	Weak transcription	Lung	lung
43	chrX:44841400-44848000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chrX:44844000-44868400	Weak transcription	HMEC	breast

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