Variant report

Variant	rs28381475
Chromosome Location	chr6:88311993-88311994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88310992..88313327-chr6:88328305..88330918,2	K562	blood:
2	chr6:88301522..88303882-chr6:88310493..88312545,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs16879559	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16879704	0.81[EUR][1000 genomes]
rs28381470	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28381530	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41273297	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4398698	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55755139	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55916435	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55985738	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56092913	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56386021	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56400749	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58060521	0.81[EUR][1000 genomes]
rs59774543	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60082015	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60316099	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66464758	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66502414	0.81[EUR][1000 genomes]
rs66663658	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66833561	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66965134	0.81[EUR][1000 genomes]
rs67371470	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67700862	0.81[EUR][1000 genomes]
rs67956402	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67978476	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67993159	0.81[EUR][1000 genomes]
rs68082038	0.80[EUR][1000 genomes]
rs68105619	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6903344	0.84[EUR][1000 genomes]
rs6907107	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6923655	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6932733	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6933305	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs715207	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72922561	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72922577	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72924342	0.81[EUR][1000 genomes]
rs73498106	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7747792	0.81[EUR][1000 genomes]
rs7752473	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7753275	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7769144	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8802	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88300400-88320800	Weak transcription	Spleen	Spleen
2	chr6:88300400-88323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:88300600-88315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:88300600-88320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:88300600-88321800	Weak transcription	Lung	lung
6	chr6:88300600-88323400	Weak transcription	Gastric	stomach
7	chr6:88300600-88391200	Weak transcription	Colonic Mucosa	Colon
8	chr6:88300800-88320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:88300800-88323600	Weak transcription	Aorta	Aorta
10	chr6:88301000-88313800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:88301000-88315600	Weak transcription	NH-A	brain
12	chr6:88301000-88316400	Weak transcription	Pancreas	Pancrea
13	chr6:88301000-88321000	Weak transcription	Brain Angular Gyrus	brain
14	chr6:88301000-88321000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:88301000-88323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:88301000-88330200	Weak transcription	Right Ventricle	heart
17	chr6:88301000-88347200	Weak transcription	Small Intestine	intestine
18	chr6:88301200-88313000	Weak transcription	NHDF-Ad	bronchial
19	chr6:88301200-88313200	Weak transcription	Hela-S3	cervix
20	chr6:88301200-88314000	Weak transcription	HMEC	breast
21	chr6:88301200-88316200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:88301200-88320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:88301200-88320800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:88301200-88323400	Weak transcription	Thymus	Thymus
25	chr6:88301200-88385000	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:88301400-88313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:88301400-88320800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:88301400-88321000	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:88301400-88322400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:88301400-88338400	Weak transcription	NHLF	lung
31	chr6:88301400-88354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:88301400-88354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:88301600-88320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:88301800-88319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:88302000-88347400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:88302000-88354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:88302000-88354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:88302800-88318800	Weak transcription	HepG2	liver
39	chr6:88305000-88398800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:88305200-88316200	Weak transcription	K562	blood
41	chr6:88305200-88329000	Weak transcription	HSMMtube	muscle
42	chr6:88305400-88313800	Weak transcription	A549	lung
43	chr6:88305400-88315800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:88305400-88315800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:88305400-88316000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:88305400-88316000	Weak transcription	GM12878-XiMat	blood
47	chr6:88305400-88316200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:88305400-88317000	Weak transcription	Osteobl	bone
49	chr6:88305400-88317800	Weak transcription	Primary B cells from cord blood	blood
50	chr6:88305400-88320800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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