Variant report

Variant	rs10100368
Chromosome Location	chr8:87482244-87482245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87475541..87478210-chr8:87481447..87484239,3	K562	blood:
2	chr8:87481910..87484178-chr8:87529355..87531387,2	MCF-7	breast:
3	chr8:87481858..87484609-chr8:87519275..87521068,2	MCF-7	breast:
4	chr8:87480003..87483972-chr8:87519479..87521956,3	MCF-7	breast:
5	chr8:87472162..87475024-chr8:87481020..87484716,3	MCF-7	breast:
6	chr8:87423456..87426369-chr8:87480182..87483127,2	K562	blood:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10086188	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10089169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10089253	0.93[ASN][1000 genomes]
rs10090898	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10090963	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10092168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10094332	0.90[ASN][1000 genomes]
rs10095589	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097866	0.93[ASN][1000 genomes]
rs10098365	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100247	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100254	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106390	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106855	0.82[EUR][1000 genomes]
rs10107117	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107571	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108586	0.93[ASN][1000 genomes]
rs10110096	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481195	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956871	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11774499	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776698	0.93[ASN][1000 genomes]
rs11783382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11984519	1.00[ASN][1000 genomes]
rs11986423	0.90[ASN][1000 genomes]
rs11994508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11997927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11998558	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155979	0.87[ASN][1000 genomes]
rs12155981	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16907490	0.82[LWK][hapmap]
rs16915375	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16915389	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17681534	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28397606	1.00[ASN][1000 genomes]
rs28416254	1.00[ASN][1000 genomes]
rs28438974	0.90[ASN][1000 genomes]
rs28504305	0.80[LWK][hapmap]
rs28514445	0.90[ASN][1000 genomes]
rs28540009	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28613262	0.90[ASN][1000 genomes]
rs28680173	0.84[ASN][1000 genomes]
rs28687116	0.90[ASN][1000 genomes]
rs2953512	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2953514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953518	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs2976176	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3087641	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[ASN][1000 genomes]
rs4440616	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs57638937	0.91[ASN][1000 genomes]
rs58837061	0.93[ASN][1000 genomes]
rs6651177	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651268	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67332431	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980476	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992624	1.00[ASN][1000 genomes]
rs7015772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7018083	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72690416	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690443	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690445	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690447	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690455	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690457	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690474	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688856	0.93[ASN][1000 genomes]
rs73688857	0.97[ASN][1000 genomes]
rs73688858	0.97[ASN][1000 genomes]
rs73688859	0.90[ASN][1000 genomes]
rs73688862	0.97[ASN][1000 genomes]
rs7818436	1.00[ASN][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7824873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7833201	0.87[ASN][1000 genomes]
rs7843399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7844014	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297913	1.00[ASN][1000 genomes]
rs9650128	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650129	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10100368	CPNE3	cis	cerebellum	SCAN
rs10100368	CPNE3	cis	parietal	SCAN
rs10100368	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs10100368	FAM82B	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:87444400-87488800	Weak transcription	NHLF	lung
7	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
11	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
12	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
13	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:87458800-87486200	Strong transcription	Liver	Liver
17	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
18	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:87460600-87486000	Strong transcription	Dnd41	blood
28	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:87470800-87485000	Strong transcription	Fetal Thymus	thymus
31	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:87471200-87482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:87472800-87483000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:87473800-87488200	Weak transcription	Stomach Mucosa	stomach
36	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
38	chr8:87476400-87483200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:87476800-87483600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
44	chr8:87478000-87482600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:87478000-87487400	Weak transcription	Fetal Intestine Small	intestine
46	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:87479200-87482400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:87479400-87482800	Strong transcription	Colon Smooth Muscle	Colon
50	chr8:87479400-87483200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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