Variant report

Variant	rs218907
Chromosome Location	chr8:90740392-90740393
allele	A/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
2	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
3	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
4	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
5	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
6	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
7	chr8:90738830..90741040-chr8:90913929..90916655,2	K562	blood:
8	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
9	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
10	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
11	chr8:90736651..90739528-chr8:90739958..90742509,3	MCF-7	breast:
12	chr8:90737440..90740963-chr8:90912985..90916304,5	MCF-7	breast:
13	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

No data

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

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1003843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095743	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252917	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259882	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1397308	0.81[CEU][hapmap]
rs16900429	0.81[CHB][hapmap]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218899	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.96[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.96[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218903	0.96[CEU][hapmap]
rs218905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218910	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218925	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218932	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218934	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2644033	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735871	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735873	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735878	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs369771	0.82[CHB][hapmap]
rs370282	0.84[AMR][1000 genomes]
rs383592	0.83[EUR][1000 genomes]
rs385524	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394108	0.82[CHB][hapmap]
rs39499	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39515	0.82[CHB][hapmap]
rs39761	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400411	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40382	0.83[AMR][1000 genomes]
rs40452	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40459	0.81[CEU][hapmap]
rs40544	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40547	0.81[AMR][1000 genomes]
rs405734	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes]
rs40638	0.84[AMR][1000 genomes]
rs410663	0.81[CEU][hapmap]
rs411279	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.85[AMR][1000 genomes]
rs42481	0.81[CEU][hapmap]
rs42490	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43135	0.82[AMR][1000 genomes]
rs43225	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs454561	0.82[CHB][hapmap]
rs465	0.83[AMR][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993133	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824932	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	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
7	esv3479599	chr8:90736894-90741021	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3479598	chr8:90736917-90741003	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3479600	chr8:90736917-90741003	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
rs218907	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218907	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs218907	RP11-37B2.1	cis	Thyroid	GTEx
rs218907	RP11-37B2.1	cis	Artery Tibial	GTEx
rs218907	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
3	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
4	chr8:90714400-90741000	Weak transcription	Gastric	stomach
5	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:90717800-90747800	Weak transcription	Ovary	ovary
8	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
9	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
11	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
12	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:90734000-90741200	Weak transcription	Liver	Liver
14	chr8:90734200-90741200	Weak transcription	Placenta	Placenta
15	chr8:90734400-90740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:90735400-90741200	Weak transcription	Primary T cells from cord blood	blood
17	chr8:90735800-90740800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:90736000-90740800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:90737000-90741000	Weak transcription	Adipose Nuclei	Adipose
20	chr8:90737000-90741400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:90737200-90741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:90737800-90741000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:90738000-90740400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:90738000-90740600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:90738000-90740800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:90738000-90741000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:90738000-90741400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:90738200-90741000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:90738200-90741000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:90738200-90741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:90738400-90740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:90738400-90740800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:90738400-90741400	Weak transcription	Right Atrium	heart
34	chr8:90738600-90740400	Weak transcription	K562	blood
35	chr8:90738600-90740600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:90738600-90740600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:90738600-90740600	Weak transcription	Fetal Heart	heart
38	chr8:90738600-90740800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:90738600-90741000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:90738600-90742400	Weak transcription	Aorta	Aorta
41	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:90738800-90740400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:90738800-90740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:90738800-90741200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:90738800-90741200	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:90738800-90741200	Weak transcription	HUVEC	blood vessel
48	chr8:90739000-90740600	Weak transcription	Hela-S3	cervix
49	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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