Variant report

Variant	rs40452
Chromosome Location	chr8:90778159-90778160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr8:90776459..90778873-chr8:90786925..90789865,2	K562	blood:
3	chr8:90775597..90777487-chr8:90778142..90780568,2	K562	blood:
4	chr8:90777239..90779666-chr8:90788389..90789949,2	MCF-7	breast:
5	chr8:90775966..90778463-chr8:90780267..90782442,2	K562	blood:
6	chr8:90776996..90779563-chr8:90782705..90784439,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1003843	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10095743	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10112852	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252917	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13259882	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1397308	0.81[CEU][hapmap]
rs218895	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs218899	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs218900	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218901	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218902	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218903	0.96[CEU][hapmap]
rs218905	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218907	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218908	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218909	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218910	0.82[EUR][1000 genomes]
rs218913	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs218914	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218925	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218929	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218932	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218934	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218936	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs218944	0.80[EUR][1000 genomes]
rs218946	0.81[EUR][1000 genomes]
rs218947	0.81[EUR][1000 genomes]
rs2644021	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2644033	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735870	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735871	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735873	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735878	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2735882	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367640	1.00[YRI][hapmap]
rs370282	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs383592	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs385524	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs388866	1.00[YRI][hapmap]
rs394108	0.82[AMR][1000 genomes]
rs39499	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39503	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39767	0.82[AMR][1000 genomes]
rs400411	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs40247	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40250	1.00[YRI][hapmap]
rs402886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40382	0.87[AMR][1000 genomes]
rs40453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40459	0.81[CEU][hapmap]
rs40544	0.96[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40545	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40547	0.85[AMR][1000 genomes]
rs405734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40636	0.89[AMR][1000 genomes]
rs40638	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs410663	0.81[CEU][hapmap]
rs411279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416324	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419754	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs42346	1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs42481	0.81[CEU][hapmap]
rs42490	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs427854	1.00[YRI][hapmap]
rs431264	0.91[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs43134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43135	0.86[AMR][1000 genomes]
rs43225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs465	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs51331	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs610880	1.00[YRI][hapmap]
rs6470366	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67143546	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6992985	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6993133	0.97[AMR][1000 genomes];0.94[EUR][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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs40452	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs40452	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs40452	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs40452	RP11-37B2.1	cis	Artery Tibial	GTEx
rs40452	RP11-37B2.1	cis	Thyroid	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
5	chr8:90772000-90778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:90772000-90796800	Weak transcription	Lung	lung
10	chr8:90772000-90797000	Weak transcription	Ovary	ovary
11	chr8:90772200-90778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:90772200-90778200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:90772200-90778200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
20	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
21	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
22	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
23	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
24	chr8:90772400-90778200	Weak transcription	Fetal Intestine Large	intestine
25	chr8:90772400-90778200	Weak transcription	Fetal Lung	lung
26	chr8:90772400-90784000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:90772400-90784600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:90772400-90784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:90772400-90784800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:90772400-90785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:90772400-90787200	Weak transcription	Fetal Stomach	stomach
32	chr8:90772400-90790600	Weak transcription	NHEK	skin
33	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:90772600-90784400	Weak transcription	Left Ventricle	heart
35	chr8:90773000-90783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:90773000-90784400	Weak transcription	HSMMtube	muscle
37	chr8:90773000-90785200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:90773000-90785200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:90773200-90778200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:90773600-90784400	Weak transcription	HMEC	breast
44	chr8:90773800-90784800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:90774000-90783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:90774200-90778200	Weak transcription	Hela-S3	cervix
47	chr8:90774200-90784200	Weak transcription	HepG2	liver
48	chr8:90774200-90785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
50	chr8:90774400-90778200	Weak transcription	K562	blood

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