Variant report

Variant	rs2439630
Chromosome Location	chr8:96245252-96245253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96239240..96241215-chr8:96244914..96248459,3	K562	blood:
2	chr8:96241997..96243931-chr8:96244182..96247053,2	MCF-7	breast:
3	chr8:96236593..96238582-chr8:96243971..96246452,2	K562	blood:
4	chr8:96037192..96039493-chr8:96242564..96245463,2	MCF-7	breast:
5	chr8:96244866..96247715-chr8:96248127..96251735,3	K562	blood:
6	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
7	chr8:96243081..96246840-chr8:96248821..96252281,5	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10096750	0.91[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs10956943	0.95[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13258855	0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs13259182	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs13263562	0.84[ASN][1000 genomes]
rs13263858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13270711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13279671	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1441394	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1530257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2083616	0.87[ASN][1000 genomes]
rs2439629	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514551	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514552	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514574	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492337	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4560758	0.92[ASN][1000 genomes]
rs4734301	0.83[GIH][hapmap];0.86[LWK][hapmap]
rs7815255	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7820512	0.92[ASN][1000 genomes]
rs7835921	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs876260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876261	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs879997	0.86[ASN][1000 genomes]
rs879998	0.84[ASN][1000 genomes]
rs879999	0.89[CHB][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap]
rs894151	0.81[GIH][hapmap]
rs9297955	0.92[ASN][1000 genomes]
rs9297956	0.92[ASN][1000 genomes]
rs9649978	0.91[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2439630	C8orf37	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
3	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:96241000-96246800	Weak transcription	HepG2	liver
7	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:96242600-96245600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:96242800-96246000	Enhancers	Fetal Thymus	thymus
10	chr8:96243800-96245400	Enhancers	Fetal Heart	heart
11	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:96244000-96247400	Weak transcription	Fetal Intestine Large	intestine
13	chr8:96244000-96250000	Weak transcription	Spleen	Spleen
14	chr8:96244200-96246800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:96244200-96248200	Weak transcription	GM12878-XiMat	blood
16	chr8:96244200-96250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:96244400-96245600	Enhancers	Fetal Stomach	stomach
18	chr8:96244400-96245600	Enhancers	Pancreas	Pancrea
19	chr8:96244800-96245400	Enhancers	Right Ventricle	heart
20	chr8:96244800-96245600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:96244800-96246000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:96244800-96246000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:96245000-96245600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:96245000-96245600	Enhancers	NHLF	lung
25	chr8:96245000-96245800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:96245000-96246000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:96245200-96245600	Enhancers	Stomach Mucosa	stomach
28	chr8:96245200-96245600	Enhancers	Thymus	Thymus
29	chr8:96245200-96246400	Weak transcription	Left Ventricle	heart
30	chr8:96245200-96246800	Weak transcription	Esophagus	oesophagus
31	chr8:96245200-96248600	Weak transcription	Gastric	stomach
32	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle

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