Variant report

Variant	rs447989
Chromosome Location	chr8:90860803-90860804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90858881..90863528-chr8:90995317..90998498,11	MCF-7	breast:
2	chr8:90859420..90866965-chr8:90912674..90917180,23	MCF-7	breast:
3	chr8:90860679..90862898-chr8:90864045..90867127,3	K562	blood:
4	chr8:90730418..90730960-chr8:90860233..90861169,2	MCF-7	breast:
5	chr8:90860155..90861596-chr8:90995894..90997273,6	MCF-7	breast:
6	chr12:41227812..41228332-chr8:90860181..90861388,5	MCF-7	breast:
7	chr8:90860592..90861235-chr8:91013154..91013733,3	K562	blood:
8	chr8:90860194..90861094-chr8:91582992..91583517,3	K562	blood:
9	chr8:90859490..90861951-chr8:90897017..90899382,2	MCF-7	breast:
10	chr6:26249185..26251020-chr8:90860087..90861965,2	MCF-7	breast:
11	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
12	chr8:90860017..90862622-chr8:90932381..90934783,2	MCF-7	breast:
13	chr8:90860556..90861077-chr8:90914154..90914756,2	MCF-7	breast:
14	chr8:90859372..90863594-chr8:90985537..90991967,6	MCF-7	breast:
15	chr8:90860127..90861878-chr8:90995834..90997368,12	MCF-7	breast:
16	chr8:90860444..90862985-chr8:90893846..90895436,2	MCF-7	breast:
17	chr8:90860238..90861141-chr8:91007229..91008461,8	MCF-7	breast:
18	chr8:90858673..90862372-chr8:90995003..90998670,3	K562	blood:
19	chr8:90859127..90860639-chr8:90860686..90863094,2	MCF-7	breast:
20	chr8:90733869..90736282-chr8:90859813..90862694,2	K562	blood:
21	chr8:90860192..90861462-chr8:90894641..90895365,5	MCF-7	breast:
22	chr8:90859033..90864870-chr8:90912637..90916570,15	MCF-7	breast:
23	chr8:90860209..90860849-chr8:90931291..90932110,3	MCF-7	breast:
24	chr8:90860209..90861069-chr8:90957500..90958819,5	MCF-7	breast:
25	chr8:90859189..90861523-chr8:90887641..90890521,4	MCF-7	breast:
26	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
27	chr8:90860020..90861677-chr8:90894087..90895653,8	MCF-7	breast:
28	chr8:90769536..90771377-chr8:90858098..90861015,2	MCF-7	breast:
29	chr8:90860628..90863383-chr8:90929314..90932262,2	MCF-7	breast:
30	chr8:90860109..90861127-chr8:90996276..90997394,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12675822	0.84[ASN][1000 genomes]
rs12679902	0.84[ASN][1000 genomes]
rs12680009	0.84[ASN][1000 genomes]
rs13277948	0.84[ASN][1000 genomes]
rs2189025	0.83[ASN][1000 genomes]
rs366867	0.95[ASN][1000 genomes]
rs367640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs370282	0.82[JPT][hapmap]
rs374957	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs376962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs377897	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs379015	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs380425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs381456	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs386587	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs388866	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs390536	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs39519	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs39771	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs39772	0.89[EUR][1000 genomes]
rs40250	0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40459	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40547	0.82[JPT][hapmap]
rs40638	0.81[JPT][hapmap]
rs410663	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419890	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42186	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42346	0.81[JPT][hapmap]
rs42481	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs425140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs425312	0.90[EUR][1000 genomes]
rs426240	0.89[EUR][1000 genomes]
rs427854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43136	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs43229	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs432457	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs438485	0.85[CEU][hapmap];0.87[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs447989	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90860200-90861200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:90860200-90861600	Enhancers	HSMM	muscle
3	chr8:90860400-90861200	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr8:90860400-90861200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:90860600-90861000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:90860600-90861000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:90860600-90861000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:90860600-90861000	Enhancers	Primary B cells from cord blood	blood
9	chr8:90860600-90861000	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:90860600-90861000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:90860600-90861000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:90860600-90861000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr8:90860600-90861000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:90860600-90861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:90860600-90861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:90860600-90861000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:90860600-90861000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:90860600-90861000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:90860600-90861000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:90860600-90861000	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:90860600-90861000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:90860600-90861000	Active TSS	Brain Substantia Nigra	brain
23	chr8:90860600-90861000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr8:90860600-90861000	Active TSS	Fetal Brain Male	brain
25	chr8:90860600-90861000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:90860600-90861000	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:90860600-90861000	Active TSS	Fetal Stomach	stomach
28	chr8:90860600-90861000	Active TSS	Ovary	ovary
29	chr8:90860600-90861000	Active TSS	Pancreas	Pancrea
30	chr8:90860600-90861000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:90860600-90861000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr8:90860600-90861000	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr8:90860600-90861000	Active TSS	Right Atrium	heart
34	chr8:90860600-90861000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:90860600-90861000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:90860600-90861000	Active TSS	Stomach Smooth Muscle	stomach
37	chr8:90860600-90861000	Flanking Active TSS	Dnd41	blood
38	chr8:90860600-90861000	Enhancers	Hela-S3	cervix
39	chr8:90860600-90861000	Flanking Active TSS	HUVEC	blood vessel
40	chr8:90860600-90861000	Flanking Active TSS	K562	blood
41	chr8:90860600-90861000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:90860600-90861000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr8:90860600-90861000	Flanking Active TSS	NHLF	lung
44	chr8:90860600-90861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:90860600-90861200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:90860600-90861200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:90860600-90861200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:90860600-90861200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr8:90860600-90861200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:90860600-90861200	Flanking Active TSS	Brain Hippocampus Middle	brain

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