Variant report

Variant	rs2277410
Chromosome Location	chr12:10789855-10789856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10788789..10790394-chr12:10825360..10827046,2	MCF-7	breast:
2	chr12:10782352..10785232-chr12:10787939..10791326,3	MCF-7	breast:
3	chr12:10783181..10785350-chr12:10788127..10790504,2	K562	blood:

Variant related genes	Relation type
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10431297	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs1073305	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs10772339	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772340	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs10772343	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs10772347	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs1078437	0.94[MEX][hapmap];0.80[TSI][hapmap]
rs10845186	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845192	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs10845194	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs10845195	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs10845197	0.87[CEU][hapmap]
rs10845198	0.86[JPT][hapmap]
rs11053886	0.88[ASN][1000 genomes]
rs12316690	0.91[CEU][hapmap]
rs12321017	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12582745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979268	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1993498	0.82[GIH][hapmap];0.93[JPT][hapmap];0.85[TSI][hapmap]
rs1993500	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009908	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2054194	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054195	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168747	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2168748	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290717	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418087	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs2418088	0.88[CEU][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap]
rs2418095	0.90[CEU][hapmap]
rs2900513	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs3759259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782671	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763573	0.88[CEU][hapmap]
rs61912160	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61912161	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488316	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs7313620	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7350557	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs7350597	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs7968284	0.86[JPT][hapmap]
rs7970568	0.88[CEU][hapmap]
rs7971142	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs8181761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2277410	TAS2R19	cis	cerebellum	SCAN
rs2277410	TAS2R31	cis	cerebellum	SCAN
rs2277410	COPS7A	cis	parietal	SCAN
rs2277410	STYK1	cis	parietal	SCAN
rs2277410	TAS2R14	cis	cerebellum	SCAN
rs2277410	TPI1	cis	parietal	SCAN
rs2277410	TAS2R20	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10794400	Weak transcription	Gastric	stomach
2	chr12:10779800-10790000	Strong transcription	HUVEC	blood vessel
3	chr12:10782200-10791000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10785400-10792600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:10787000-10793800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:10787600-10794000	Weak transcription	NHEK	skin
7	chr12:10787600-10794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:10787600-10794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:10787800-10792800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:10787800-10794000	Weak transcription	HMEC	breast
11	chr12:10787800-10797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:10788000-10792400	Weak transcription	Osteobl	bone
13	chr12:10788000-10794000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:10788000-10794400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:10788400-10791000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:10788600-10797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:10788800-10792600	Weak transcription	NHDF-Ad	bronchial
18	chr12:10788800-10793400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:10789400-10790400	Enhancers	Colonic Mucosa	Colon
20	chr12:10789400-10790600	Enhancers	Esophagus	oesophagus
21	chr12:10789400-10790600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr12:10789800-10793800	Weak transcription	Placenta	Placenta
23	chr12:10789800-10794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:10789800-10794000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:10789800-10794000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:10789800-10795000	Enhancers	Stomach Mucosa	stomach

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