Variant report

Variant	rs12682006
Chromosome Location	chr8:126095868-126095869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:
2	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10086441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10087191	0.89[ASN][1000 genomes]
rs10087246	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10092712	0.94[CEU][hapmap]
rs10095967	0.88[CEU][hapmap]
rs10096319	0.86[CEU][hapmap];0.83[MEX][hapmap]
rs10097947	0.80[EUR][1000 genomes]
rs10102066	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10102230	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs10103150	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104486	0.88[CEU][hapmap]
rs10111425	0.80[EUR][1000 genomes]
rs1019705	0.88[CEU][hapmap]
rs10216429	0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10216437	0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs10429356	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs10441518	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10481152	0.82[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956231	0.83[ASN][1000 genomes]
rs1156712	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1156713	0.89[ASN][1000 genomes]
rs12542195	0.88[CEU][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs12542833	0.90[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs12543024	0.88[ASN][1000 genomes]
rs12545710	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548159	0.87[ASN][1000 genomes]
rs12548192	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12550607	0.82[CEU][hapmap];0.85[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1319792	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249949	0.89[ASN][1000 genomes]
rs13251808	0.89[ASN][1000 genomes]
rs13251846	0.87[ASN][1000 genomes]
rs13257850	0.89[ASN][1000 genomes]
rs13263702	0.94[CEU][hapmap];0.84[MEX][hapmap]
rs13265195	0.80[ASN][1000 genomes]
rs13282919	0.80[EUR][1000 genomes]
rs16900177	0.83[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[ASN][1000 genomes]
rs16900238	0.89[ASN][1000 genomes]
rs16900316	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033130	0.83[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[ASN][1000 genomes]
rs2217132	0.94[CEU][hapmap]
rs2288310	0.88[CEU][hapmap]
rs2288312	0.94[CEU][hapmap];0.80[MEX][hapmap]
rs2303522	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs2303525	0.81[CEU][hapmap];0.84[MEX][hapmap]
rs2382998	0.80[ASN][1000 genomes]
rs2384915	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2384921	0.93[CEU][hapmap];0.84[CHB][hapmap]
rs28670937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760092	0.89[ASN][1000 genomes]
rs28873392	0.89[ASN][1000 genomes]
rs36090120	0.81[ASN][1000 genomes]
rs3750234	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3750235	0.89[ASN][1000 genomes]
rs3750236	0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3750237	0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[ASN][1000 genomes]
rs3793402	0.85[ASN][1000 genomes]
rs3793447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3860845	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs4007685	0.89[ASN][1000 genomes]
rs4347009	0.94[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4870932	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs4870933	0.87[ASN][1000 genomes]
rs4871568	0.85[CEU][hapmap]
rs6470326	0.94[CEU][hapmap]
rs6470327	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6470328	0.89[ASN][1000 genomes]
rs6651230	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989556	0.94[CEU][hapmap];0.84[MEX][hapmap]
rs6989560	0.80[CHB][hapmap];0.98[CHD][hapmap];0.89[ASN][1000 genomes]
rs6991343	0.80[EUR][1000 genomes]
rs7003069	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7007960	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7008915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018283	0.96[ASN][1000 genomes]
rs7357375	0.82[CEU][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes]
rs7813917	0.83[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs7825911	0.87[ASN][1000 genomes]
rs7832609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297707	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297708	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297709	0.94[CEU][hapmap]
rs966946	0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[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
rs12682006	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	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:126043000-126096000	Strong transcription	Liver	Liver
11	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
12	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
17	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:126073200-126098200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr8:126073200-126098400	Strong transcription	Primary T cells from cord blood	blood
20	chr8:126073400-126096400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:126078400-126096000	Strong transcription	Dnd41	blood
22	chr8:126078600-126096200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:126078600-126096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:126082000-126096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:126083800-126096000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:126083800-126097800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:126083800-126098000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
29	chr8:126084400-126096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:126084400-126097400	Strong transcription	Placenta	Placenta
31	chr8:126084600-126096200	Strong transcription	Fetal Intestine Large	intestine
32	chr8:126085000-126096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:126085000-126098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:126085400-126102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:126085400-126102600	Weak transcription	Stomach Mucosa	stomach
36	chr8:126087600-126097000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:126088200-126098000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:126088400-126096200	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:126088400-126098800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:126088600-126097200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:126090400-126096200	Strong transcription	Hela-S3	cervix
42	chr8:126090800-126098000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:126090800-126098200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:126090800-126100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:126090800-126102800	Weak transcription	Aorta	Aorta
46	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:126091200-126097800	Weak transcription	Spleen	Spleen
48	chr8:126091200-126102600	Weak transcription	Fetal Brain Male	brain
49	chr8:126091200-126102600	Weak transcription	NHLF	lung
50	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus

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