Variant report

Variant	rs12706823
Chromosome Location	chr7:127566478-127566479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127560049..127563219-chr7:127566241..127571212,6	K562	blood:
2	chr7:127563851..127566586-chr7:127576141..127579014,2	K562	blood:
3	chr7:127559501..127561927-chr7:127564364..127566896,2	MCF-7	breast:
4	chr7:127560028..127563725-chr7:127565459..127568512,4	K562	blood:
5	chr7:127565086..127568468-chr7:127575719..127577641,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10487499	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537331	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs12540357	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706820	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.96[EUR][1000 genomes]
rs17151466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs17151653	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.81[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17151739	0.85[GIH][hapmap];0.93[MEX][hapmap]
rs17676654	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs55660321	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	1.00[CHB][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs67632185	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	1.00[CHB][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959487	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs73232968	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741094	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.95[EUR][1000 genomes]
rs7785596	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	1.00[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs7810024	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649027	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic 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	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12706823	GPR37	cis	cerebellum	SCAN
rs12706823	SND1	cis	Artery Tibial	GTEx
rs12706823	ARF5	cis	cerebellum	SCAN
rs12706823	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
4	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
7	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
8	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
9	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial
13	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
18	chr7:127546400-127569200	Weak transcription	Dnd41	blood
19	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
20	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
22	chr7:127546800-127569200	Weak transcription	Lung	lung
23	chr7:127547400-127567000	Weak transcription	Liver	Liver
24	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:127547800-127569600	Weak transcription	A549	lung
26	chr7:127548000-127567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127549200-127567600	Weak transcription	NH-A	brain
28	chr7:127549800-127567400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:127550000-127568000	Weak transcription	NHEK	skin
30	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:127551400-127566800	Weak transcription	Small Intestine	intestine
32	chr7:127551400-127569200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:127551400-127569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:127551600-127569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:127552400-127569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127553400-127567400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:127553400-127569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:127553600-127567000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:127553600-127567600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:127553800-127569400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:127554000-127567000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:127554800-127567200	Weak transcription	Fetal Stomach	stomach
43	chr7:127554800-127569000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:127555200-127567000	Weak transcription	Fetal Intestine Large	intestine
45	chr7:127555200-127569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:127555400-127569200	Weak transcription	HepG2	liver
47	chr7:127557200-127569200	Weak transcription	Psoas Muscle	Psoas
48	chr7:127558000-127567000	Weak transcription	Fetal Intestine Small	intestine
49	chr7:127558000-127569600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:127558400-127567400	Weak transcription	K562	blood

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