Variant report

Variant	rs1866844
Chromosome Location	chr8:95531419-95531420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95531024..95534923-chr8:95539065..95540883,3	K562	blood:
2	chr8:95523173..95526171-chr8:95528609..95531520,2	K562	blood:
3	chr20:34328736..34330523-chr8:95531283..95532824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction
ENSG00000131051	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11784188	0.87[ASN][1000 genomes]
rs11786245	0.87[ASN][1000 genomes]
rs11992717	0.92[ASN][1000 genomes]
rs1978556	0.85[ASN][1000 genomes]
rs2304765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890827	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs3096604	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3098705	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.95[ASN][1000 genomes]
rs3098711	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098713	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs3098714	1.00[ASN][1000 genomes]
rs3098717	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs3098721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs3098722	1.00[ASN][1000 genomes]
rs3098723	0.89[YRI][hapmap]
rs3098724	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099405	0.90[ASN][1000 genomes]
rs3099408	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs3099414	0.97[ASN][1000 genomes]
rs3099416	0.85[YRI][hapmap]
rs3099418	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs3099419	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs3099420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3099421	0.89[YRI][hapmap]
rs3099422	0.85[ASN][1000 genomes]
rs3099425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3102852	0.86[ASN][1000 genomes]
rs3102854	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102856	1.00[ASN][1000 genomes]
rs3102857	1.00[ASN][1000 genomes]
rs3102858	0.89[YRI][hapmap]
rs3102860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3102865	1.00[ASN][1000 genomes]
rs3102866	0.89[YRI][hapmap]
rs3102870	0.89[YRI][hapmap]
rs3133598	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs3133600	0.87[ASN][1000 genomes]
rs3133636	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133639	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133644	0.81[YRI][hapmap]
rs3133646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs3133647	0.89[YRI][hapmap]
rs3133652	0.80[YRI][hapmap]
rs3133659	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1866844	TSPYL5	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
7	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95515600-95534200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:95516200-95534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
12	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
13	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:95518000-95534000	Weak transcription	Psoas Muscle	Psoas
15	chr8:95518800-95534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:95520400-95532200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:95520400-95532400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:95520400-95532800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:95520400-95532800	Strong transcription	Fetal Intestine Large	intestine
20	chr8:95520400-95534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95520400-95534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:95520400-95534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:95520400-95535000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:95520400-95535000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:95520600-95532200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:95520600-95534400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:95520600-95534600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95520600-95536000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:95520800-95532200	Strong transcription	Dnd41	blood
32	chr8:95521000-95532000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:95521000-95533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:95522600-95533000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:95523000-95532400	Strong transcription	Liver	Liver
36	chr8:95523800-95536800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:95523800-95539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:95524000-95534000	Weak transcription	NHEK	skin
39	chr8:95524000-95538200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:95524000-95540400	Weak transcription	Colonic Mucosa	Colon
41	chr8:95525200-95538200	Weak transcription	Brain Substantia Nigra	brain
42	chr8:95525400-95532400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:95525600-95534600	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:95526200-95532000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:95526600-95533600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:95527200-95534800	Strong transcription	Thymus	Thymus
47	chr8:95527400-95532800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:95528000-95542400	Weak transcription	Pancreas	Pancrea
50	chr8:95528200-95533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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