Variant report

Variant	rs28800513
Chromosome Location	chr6:57193524-57193525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57184109..57185924-chr6:57191382..57194380,2	K562	blood:
2	chr6:57188094..57190184-chr6:57192296..57194436,2	MCF-7	breast:
3	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:
4	chr6:57189628..57192491-chr6:57192735..57194263,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12180921	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476852	0.86[AFR][1000 genomes]
rs1741910	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741911	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741912	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741913	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741915	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1755831	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1755832	0.91[AFR][1000 genomes]
rs1755834	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17705499	0.81[AFR][1000 genomes]
rs1888266	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28367021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3778513	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3778514	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3800014	1.00[ASN][1000 genomes]
rs4715652	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58482037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58651731	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431929	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60821664	0.90[EUR][1000 genomes]
rs6459186	1.00[ASN][1000 genomes]
rs6459188	1.00[ASN][1000 genomes]
rs6911273	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936450	1.00[ASN][1000 genomes]
rs7754911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9396273	1.00[ASN][1000 genomes]
rs9396274	0.89[ASN][1000 genomes]
rs9464433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9464434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464438	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464440	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9475820	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475837	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475841	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9475844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9475845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475852	1.00[ASN][1000 genomes]
rs9475856	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475862	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9475863	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475887	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57182800-57194200	Weak transcription	Small Intestine	intestine
2	chr6:57183000-57194200	Weak transcription	Pancreas	Pancrea
3	chr6:57183000-57194200	Weak transcription	Spleen	Spleen
4	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
7	chr6:57183200-57194400	Weak transcription	Psoas Muscle	Psoas
8	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:57183800-57194200	Strong transcription	Fetal Thymus	thymus
10	chr6:57184000-57194600	Strong transcription	Primary B cells from cord blood	blood
11	chr6:57184000-57195800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:57184200-57194400	Weak transcription	Fetal Heart	heart
13	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:57184400-57193600	Strong transcription	Primary T cells from cord blood	blood
15	chr6:57184600-57194400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:57184600-57196000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:57184600-57196200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:57184800-57194400	Strong transcription	HepG2	liver
20	chr6:57184800-57194800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr6:57184800-57199600	Strong transcription	HSMM	muscle
22	chr6:57185000-57195000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr6:57185200-57194400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:57185200-57195800	Strong transcription	Osteobl	bone
25	chr6:57186000-57194200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:57186400-57194000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:57186400-57194200	Weak transcription	Right Ventricle	heart
28	chr6:57187400-57196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:57188800-57194800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr6:57189400-57195200	Strong transcription	Hela-S3	cervix
31	chr6:57189800-57194600	Strong transcription	Fetal Intestine Large	intestine
32	chr6:57190000-57193600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:57190000-57194200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:57190000-57194200	Strong transcription	Adipose Nuclei	Adipose
35	chr6:57190000-57195000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:57190000-57195000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:57190000-57199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:57190000-57200000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:57190200-57194000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:57190200-57194200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:57190200-57194600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:57190200-57194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:57190200-57194800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr6:57190200-57194800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr6:57190200-57195000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:57190400-57194200	Strong transcription	Colon Smooth Muscle	Colon
47	chr6:57190600-57193600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:57190600-57194000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:57190600-57194000	Strong transcription	HMEC	breast
50	chr6:57190600-57194200	Strong transcription	A549	lung

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