Variant report

Variant	rs72869253
Chromosome Location	chr6:49396316-49396317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49395795..49399005-chr6:49401983..49404851,4	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10948498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11752340	0.82[EUR][1000 genomes]
rs11752910	0.82[EUR][1000 genomes]
rs11755646	0.82[EUR][1000 genomes]
rs11757098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173703	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12175251	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16879241	0.86[EUR][1000 genomes]
rs17805348	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1924982	0.86[EUR][1000 genomes]
rs2143730	0.82[EUR][1000 genomes]
rs28841337	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs471220	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs471316	0.85[EUR][1000 genomes]
rs471332	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs472313	0.83[EUR][1000 genomes]
rs474021	0.82[EUR][1000 genomes]
rs474897	0.83[EUR][1000 genomes]
rs475757	0.86[EUR][1000 genomes]
rs478550	0.86[EUR][1000 genomes]
rs481270	0.86[EUR][1000 genomes]
rs481959	0.81[EUR][1000 genomes]
rs482582	0.85[EUR][1000 genomes]
rs482930	0.84[EUR][1000 genomes]
rs483192	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs483827	0.81[EUR][1000 genomes]
rs484942	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs485383	0.86[EUR][1000 genomes]
rs485474	0.86[EUR][1000 genomes]
rs485772	0.86[EUR][1000 genomes]
rs485976	0.86[EUR][1000 genomes]
rs495303	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs495525	0.82[EUR][1000 genomes]
rs496864	0.86[EUR][1000 genomes]
rs498825	0.86[EUR][1000 genomes]
rs500811	0.84[EUR][1000 genomes]
rs501835	0.86[EUR][1000 genomes]
rs503680	0.86[EUR][1000 genomes]
rs512497	0.86[EUR][1000 genomes]
rs520470	0.86[EUR][1000 genomes]
rs520599	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs527399	0.84[EUR][1000 genomes]
rs529464	0.85[EUR][1000 genomes]
rs530156	0.85[EUR][1000 genomes]
rs530458	0.86[EUR][1000 genomes]
rs532017	0.86[EUR][1000 genomes]
rs532756	0.84[EUR][1000 genomes]
rs532785	0.86[EUR][1000 genomes]
rs537190	0.86[EUR][1000 genomes]
rs538016	0.86[EUR][1000 genomes]
rs539026	0.86[EUR][1000 genomes]
rs540164	0.86[EUR][1000 genomes]
rs543305	0.83[EUR][1000 genomes]
rs543805	0.84[EUR][1000 genomes]
rs544542	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs545472	0.86[EUR][1000 genomes]
rs547757	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs548644	0.86[EUR][1000 genomes]
rs549464	0.86[EUR][1000 genomes]
rs551459	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs551476	0.81[EUR][1000 genomes]
rs553437	0.86[EUR][1000 genomes]
rs555134	0.84[EUR][1000 genomes]
rs556711	0.86[EUR][1000 genomes]
rs556807	0.86[EUR][1000 genomes]
rs559277	0.81[EUR][1000 genomes]
rs562369	0.86[EUR][1000 genomes]
rs563271	0.84[EUR][1000 genomes]
rs563358	0.82[EUR][1000 genomes]
rs564042	0.86[EUR][1000 genomes]
rs568369	0.86[EUR][1000 genomes]
rs568563	0.86[EUR][1000 genomes]
rs569142	0.86[EUR][1000 genomes]
rs574909	0.81[EUR][1000 genomes]
rs575461	0.86[EUR][1000 genomes]
rs577530	0.86[EUR][1000 genomes]
rs579712	0.84[EUR][1000 genomes]
rs580792	0.81[EUR][1000 genomes]
rs6458682	0.82[EUR][1000 genomes]
rs6902604	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6902615	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6903158	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6922862	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6923065	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6927463	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6935826	0.83[EUR][1000 genomes]
rs72870365	0.86[EUR][1000 genomes]
rs7450140	0.84[EUR][1000 genomes]
rs7764755	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9349492	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9357609	0.82[EUR][1000 genomes]
rs9357610	0.86[EUR][1000 genomes]
rs9357612	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9367355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369883	0.81[EUR][1000 genomes]
rs9369884	0.84[EUR][1000 genomes]
rs9369886	0.86[EUR][1000 genomes]
rs9369902	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9381766	0.84[EUR][1000 genomes]
rs9381767	0.86[EUR][1000 genomes]
rs9395477	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49382000-49396600	Weak transcription	Aorta	Aorta
2	chr6:49383400-49399800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:49384200-49398400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:49389600-49401200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:49391000-49401200	Weak transcription	Left Ventricle	heart
6	chr6:49392400-49398800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:49392400-49403800	Weak transcription	Right Ventricle	heart
8	chr6:49392600-49396600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:49392600-49397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:49392800-49400400	Weak transcription	Ovary	ovary
11	chr6:49393400-49406400	Weak transcription	Lung	lung
12	chr6:49393600-49399400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:49394000-49400400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:49394600-49397000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:49394600-49398800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:49394600-49399200	Weak transcription	Brain Germinal Matrix	brain
17	chr6:49394600-49399600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:49394600-49400200	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:49394800-49396400	Weak transcription	Fetal Brain Female	brain
20	chr6:49394800-49396400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:49394800-49397200	Weak transcription	Primary B cells from cord blood	blood
22	chr6:49394800-49397400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:49394800-49398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:49394800-49403200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:49395000-49396600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:49395000-49402000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:49395200-49396800	Weak transcription	Fetal Thymus	thymus
28	chr6:49395200-49398600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:49395200-49399200	Weak transcription	Fetal Lung	lung
30	chr6:49395200-49400400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:49395200-49400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:49395200-49406400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:49395200-49406400	Weak transcription	Fetal Stomach	stomach
34	chr6:49395200-49406400	Weak transcription	Gastric	stomach
35	chr6:49395200-49406400	Weak transcription	Spleen	Spleen
36	chr6:49395400-49397000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:49395400-49397000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:49395400-49397000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:49395400-49400800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:49395400-49400800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:49395400-49400800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:49395400-49402400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:49395400-49406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:49395400-49429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:49395600-49397200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:49395600-49400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:49395600-49403200	Weak transcription	Psoas Muscle	Psoas
48	chr6:49395600-49406400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:49395600-49406400	Weak transcription	Thymus	Thymus
50	chr6:49395800-49397400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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