Variant report

Variant	rs10096319
Chromosome Location	chr8:126077275-126077276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125485708..125487232-chr8:126075795..126078177,2	MCF-7	breast:
2	chr8:126075725..126079990-chr8:126102690..126105768,5	MCF-7	breast:
3	chr8:126065661..126068015-chr8:126076648..126079016,2	MCF-7	breast:
4	chr8:126053291..126056061-chr8:126075951..126077453,2	MCF-7	breast:
5	chr8:126062714..126065233-chr8:126075717..126077360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10086228	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10086441	0.80[EUR][1000 genomes]
rs10092712	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10095967	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102066	0.86[CEU][hapmap]
rs10104486	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10107270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111425	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1019705	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10481152	0.86[CEU][hapmap]
rs1156712	0.80[CEU][hapmap]
rs12542195	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546285	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676128	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12682006	0.86[CEU][hapmap];0.83[MEX][hapmap]
rs1319792	0.80[CEU][hapmap]
rs13248796	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13250545	0.85[YRI][hapmap]
rs13263702	0.93[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13264301	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13282919	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16900177	0.80[CEU][hapmap]
rs16900316	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2033130	0.80[CEU][hapmap];0.83[MEX][hapmap]
rs2217132	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288310	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288312	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303522	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303525	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2384921	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34818959	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3750237	0.87[CEU][hapmap]
rs3793447	0.86[CEU][hapmap]
rs4347009	0.93[CEU][hapmap]
rs4870932	0.80[CEU][hapmap]
rs4871568	0.82[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470326	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470327	0.80[CEU][hapmap]
rs6651230	0.93[CEU][hapmap];0.84[AMR][1000 genomes]
rs6989556	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991343	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003069	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7007960	0.80[CEU][hapmap]
rs7008915	0.86[CEU][hapmap]
rs7357375	0.81[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs7813917	0.80[CEU][hapmap];0.83[MEX][hapmap]
rs7832609	0.86[CEU][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs9297709	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs966945	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS 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
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10096319	FAM91A1	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
13	chr8:126043000-126084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:126043000-126096000	Strong transcription	Liver	Liver
15	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
16	chr8:126043800-126082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126045600-126095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:126046200-126081800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:126050200-126089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:126052400-126080600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:126055800-126088600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:126058000-126082000	Weak transcription	Fetal Heart	heart
26	chr8:126059600-126080600	Weak transcription	Stomach Mucosa	stomach
27	chr8:126063000-126078600	Weak transcription	HepG2	liver
28	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:126066000-126082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:126066600-126083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
32	chr8:126066800-126081600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:126068200-126080200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:126068800-126082000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:126069000-126079800	Weak transcription	Small Intestine	intestine
36	chr8:126069000-126080400	Weak transcription	Fetal Brain Male	brain
37	chr8:126069000-126080600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:126069200-126078800	Weak transcription	Gastric	stomach
39	chr8:126070000-126081200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:126070400-126078400	Weak transcription	NHEK	skin
41	chr8:126070400-126080200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:126070800-126078600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:126070800-126080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:126070800-126082400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:126071000-126078600	Weak transcription	Fetal Intestine Small	intestine
46	chr8:126071200-126077800	Strong transcription	NHDF-Ad	bronchial
47	chr8:126071200-126078600	Weak transcription	Esophagus	oesophagus
48	chr8:126071800-126078400	Weak transcription	Colonic Mucosa	Colon
49	chr8:126071800-126078600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:126071800-126080200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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