Variant report

Variant	rs5960904
Chromosome Location	chrX:57148607-57148608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:57148504-57148833	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chrX:57147235-57148899	SK-N-SH	brain:	n/a	n/a
3	MAFK	chrX:57148281-57148619	HepG2	liver:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
4	TBP	chrX:57148450-57148631	GM12878	blood:	n/a	n/a
5	MAFK	chrX:57147825-57148662	Hela-S3	cervix:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
6	CHD1	chrX:57148588-57148788	GM12878	blood:	n/a	n/a
7	MAFF	chrX:57148274-57148615	HepG2	liver:	n/a	chrX:57148432-57148450
8	TBP	chrX:57147803-57148822	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SPIN2B	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10126276	0.90[YRI][hapmap]
rs11091631	0.90[YRI][hapmap]
rs12394031	0.86[YRI][hapmap]
rs2142768	0.86[YRI][hapmap]
rs2317097	0.86[YRI][hapmap]
rs5960893	0.86[YRI][hapmap]
rs5960905	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391838	chrX:57144560-57160412	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3347206	chrX:57147222-57159535	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv33226	chrX:57148376-57160464	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57147200-57148800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:57147200-57148800	Active TSS	H1 Cell Line	embryonic stem cell
3	chrX:57147200-57148800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chrX:57147200-57148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chrX:57147200-57148800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:57147200-57148800	Active TSS	Liver	Liver
7	chrX:57147200-57148800	Active TSS	Brain Cingulate Gyrus	brain
8	chrX:57147200-57148800	Active TSS	Brain Germinal Matrix	brain
9	chrX:57147200-57148800	Active TSS	Brain Hippocampus Middle	brain
10	chrX:57147200-57148800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chrX:57147200-57148800	Active TSS	Duodenum Mucosa	Duodenum
12	chrX:57147200-57148800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chrX:57147200-57148800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chrX:57147200-57148800	Active TSS	Fetal Intestine Small	intestine
15	chrX:57147200-57148800	Active TSS	Fetal Kidney	kidney
16	chrX:57147200-57148800	Active TSS	Fetal Thymus	thymus
17	chrX:57147200-57148800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chrX:57147200-57148800	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chrX:57147200-57148800	Active TSS	Stomach Smooth Muscle	stomach
20	chrX:57147200-57148800	Active TSS	Dnd41	blood
21	chrX:57147200-57148800	Active TSS	HepG2	liver
22	chrX:57147200-57148800	Active TSS	HSMM	muscle
23	chrX:57147200-57148800	Active TSS	NH-A	brain
24	chrX:57147200-57148800	Active TSS	NHDF-Ad	bronchial
25	chrX:57147200-57148800	Active TSS	NHEK	skin
26	chrX:57147200-57148800	Active TSS	Osteobl	bone
27	chrX:57147200-57149000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chrX:57147200-57149000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chrX:57147200-57149000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chrX:57147200-57149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chrX:57147200-57149000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chrX:57147200-57149000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chrX:57147200-57149000	Active TSS	Primary T cells from cord blood	blood
34	chrX:57147200-57149000	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chrX:57147200-57149000	Active TSS	Muscle Satellite Cultured Cells	--
36	chrX:57147200-57149000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chrX:57147200-57149000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chrX:57147200-57149200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chrX:57147200-57149200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chrX:57147200-57149200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chrX:57147200-57149200	Active TSS	Fetal Lung	lung
42	chrX:57147200-57149200	Active TSS	A549	lung
43	chrX:57147200-57149200	Active TSS	GM12878-XiMat	blood
44	chrX:57147200-57149200	Active TSS	HMEC	breast
45	chrX:57147200-57149200	Active TSS	K562	blood
46	chrX:57147200-57149400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chrX:57147200-57149400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chrX:57147200-57149400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chrX:57147200-57149400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chrX:57147200-57149400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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