Variant report

Variant	rs2285796
Chromosome Location	chr6:30120450-30120451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30119391..30121135-chr6:30321285..30322810,2	K562	blood:
2	chr6:30116433..30118357-chr6:30119200..30121836,2	MCF-7	breast:
3	chr6:30092394..30094578-chr6:30120446..30121954,2	MCF-7	breast:
4	chr6:30119883..30121941-chr6:30128397..30130915,2	MCF-7	breast:
5	chr6:30027349..30029645-chr6:30119880..30121470,2	MCF-7	breast:
6	chr6:30120236..30122567-chr6:30123683..30125574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066379	Chromatin interaction
ENSG00000204613	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1042338	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1076229	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10947053	0.86[ASN][1000 genomes]
rs13194768	0.84[EUR][1000 genomes]
rs1419671	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419672	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1541324	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573297	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573298	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573299	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239530	0.84[EUR][1000 genomes]
rs2284163	0.86[ASN][1000 genomes]
rs2285795	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2508030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508031	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2517653	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2517655	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28400887	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2857433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857435	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2857436	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2857438	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2857439	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2857440	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2857458	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3132124	0.82[ASN][1000 genomes]
rs3815079	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3815080	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3815082	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815084	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815085	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815086	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3888580	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4392759	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713293	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4959011	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4959012	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4959041	0.86[ASN][1000 genomes]
rs4959044	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757259	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757261	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757262	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757263	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs757264	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7843	0.84[EUR][1000 genomes]
rs9261424	0.86[ASN][1000 genomes]
rs9261431	0.86[ASN][1000 genomes]
rs9261433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261438	0.86[ASN][1000 genomes]
rs9261439	0.86[ASN][1000 genomes]
rs9261440	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261442	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261443	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9261444	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261445	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261446	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261448	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9261449	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261450	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261451	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261453	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261454	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261455	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261456	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261457	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261458	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261459	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9261461	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261462	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261463	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261465	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261466	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261467	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261468	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261470	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261471	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261472	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261473	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261479	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261480	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9261481	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9261482	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261483	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261484	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9261485	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261486	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261488	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261489	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261490	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261491	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261492	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261493	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261495	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261496	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261497	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261498	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261499	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261500	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261501	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261502	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261503	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261504	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9261505	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261507	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261508	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261509	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261511	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261512	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261513	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9261514	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261516	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9261517	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261518	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261519	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261521	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9261522	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9261523	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261524	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261525	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9261526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261527	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9261528	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9261529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261533	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261535	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs929156	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs957765	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285796	HLA-A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30112800-30120800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:30116000-30121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30117200-30122000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:30117800-30121600	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:30118000-30120600	Enhancers	K562	blood
6	chr6:30118400-30122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:30118600-30121400	Enhancers	Fetal Intestine Small	intestine
8	chr6:30118600-30125000	Enhancers	Fetal Intestine Large	intestine
9	chr6:30118800-30121800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:30119200-30121000	Weak transcription	Placenta	Placenta
11	chr6:30119200-30122400	Weak transcription	HSMM	muscle
12	chr6:30119400-30121800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:30119600-30121000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30119600-30122000	Weak transcription	Osteobl	bone
15	chr6:30119600-30122400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:30119600-30124000	Weak transcription	Right Atrium	heart
17	chr6:30119800-30121000	Weak transcription	Small Intestine	intestine
18	chr6:30119800-30121000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:30119800-30121800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:30119800-30122000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30119800-30122400	Enhancers	HepG2	liver
22	chr6:30120000-30121800	Weak transcription	Colonic Mucosa	Colon
23	chr6:30120200-30122200	Enhancers	Duodenum Mucosa	Duodenum

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