Variant report

Variant	rs5914710
Chromosome Location	chrX:56599489-56599490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:56595142..56598529-chrX:56599430..56604121,4	K562	blood:
2	chrX:56595436..56598724-chrX:56598981..56601324,4	K562	blood:
3	chrX:56589676..56592038-chrX:56599378..56602189,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188021	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12690340	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs1387716	1.00[CEU][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs1927222	1.00[CEU][hapmap]
rs2130431	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs5914700	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs5914709	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs5914776	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap]
rs5914778	1.00[CEU][hapmap]
rs5914779	0.94[MEX][hapmap]
rs5960204	1.00[ASW][hapmap];0.82[CEU][hapmap];0.83[GIH][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap]
rs5960738	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap]
rs5960754	1.00[CEU][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs5960785	1.00[CEU][hapmap]
rs6612632	0.82[CEU][hapmap];0.94[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2756104	chrX:56292362-56824154	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv2754937	chrX:56482424-56851953	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5914710	SPIN-2	cis	multi-tissue	Pritchard

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56592200-56599600	Weak transcription	Esophagus	oesophagus
2	chrX:56592200-56602600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:56592200-56625800	Weak transcription	Left Ventricle	heart
4	chrX:56592600-56599600	Weak transcription	Fetal Muscle Trunk	muscle
5	chrX:56592600-56600000	Weak transcription	Placenta	Placenta
6	chrX:56592600-56600400	Weak transcription	HSMM	muscle
7	chrX:56592600-56613200	Weak transcription	Fetal Intestine Small	intestine
8	chrX:56593200-56599600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chrX:56593200-56601200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chrX:56593200-56603600	Weak transcription	HSMMtube	muscle
11	chrX:56593200-56625200	Weak transcription	Thymus	Thymus
12	chrX:56593800-56600400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:56593800-56601000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chrX:56593800-56604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chrX:56593800-56607000	Weak transcription	Primary T cells from cord blood	blood
16	chrX:56593800-56608400	Weak transcription	Duodenum Mucosa	Duodenum
17	chrX:56593800-56616200	Weak transcription	Primary B cells from cord blood	blood
18	chrX:56594000-56600200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chrX:56594200-56604200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chrX:56594600-56603600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chrX:56595400-56599800	Strong transcription	A549	lung
22	chrX:56595400-56600400	Weak transcription	HUVEC	blood vessel
23	chrX:56595600-56602800	Weak transcription	Stomach Mucosa	stomach
24	chrX:56595600-56617200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chrX:56595800-56599600	Weak transcription	Small Intestine	intestine
26	chrX:56595800-56604800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chrX:56595800-56604800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chrX:56595800-56605200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chrX:56596600-56600800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chrX:56596600-56601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chrX:56596600-56605200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chrX:56596600-56606200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chrX:56596600-56606800	Weak transcription	Primary B cells from peripheral blood	blood
34	chrX:56596600-56608000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chrX:56596600-56619400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chrX:56596800-56602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chrX:56596800-56614600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chrX:56597000-56599800	Weak transcription	GM12878-XiMat	blood
39	chrX:56597000-56604200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chrX:56597000-56606800	Weak transcription	Hela-S3	cervix
41	chrX:56597000-56608200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chrX:56597000-56626200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chrX:56597200-56600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chrX:56597400-56613200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chrX:56597400-56623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chrX:56597400-56627800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chrX:56597600-56599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chrX:56597800-56614800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chrX:56598400-56599800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chrX:56598400-56599800	Strong transcription	Fetal Thymus	thymus

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