Variant report

Variant	rs7458839
Chromosome Location	chr7:127495797-127495798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127494426..127496522-chr7:127505539..127507746,2	K562	blood:
2	chr7:127493019..127496390-chr7:127499620..127501356,3	K562	blood:
3	chr7:127495466..127498009-chr7:127499722..127503312,3	K562	blood:
4	chr7:127493526..127496139-chr7:127503216..127505178,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1019578	0.89[ASN][1000 genomes]
rs10228031	0.89[ASN][1000 genomes]
rs1025075	0.89[ASN][1000 genomes]
rs10251548	0.91[AFR][1000 genomes]
rs10487499	0.97[EUR][1000 genomes]
rs10487502	0.85[EUR][1000 genomes]
rs1073155	1.00[JPT][hapmap]
rs12154492	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12375023	0.97[EUR][1000 genomes]
rs12531847	0.97[EUR][1000 genomes]
rs12532894	0.85[EUR][1000 genomes]
rs12534918	0.85[EUR][1000 genomes]
rs12536253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[ASN][1000 genomes]
rs12540357	0.85[EUR][1000 genomes]
rs12706816	0.99[EUR][1000 genomes]
rs12706818	0.99[EUR][1000 genomes]
rs12706819	0.99[EUR][1000 genomes]
rs12706820	0.99[EUR][1000 genomes]
rs12706821	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes]
rs12706822	0.97[EUR][1000 genomes]
rs12706823	0.95[EUR][1000 genomes]
rs13221709	0.85[EUR][1000 genomes]
rs13227201	0.95[EUR][1000 genomes]
rs13229973	0.99[EUR][1000 genomes]
rs13231367	0.99[EUR][1000 genomes]
rs13236338	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs13238924	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13246200	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs13246286	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1345283	0.85[EUR][1000 genomes]
rs1348103	0.92[EUR][1000 genomes]
rs1362898	0.81[EUR][1000 genomes]
rs1419970	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs1440973	0.89[ASN][1000 genomes]
rs1468701	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1468702	1.00[JPT][hapmap]
rs17151466	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes]
rs17151488	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17151507	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs17151515	0.84[ASN][1000 genomes]
rs17151567	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17151639	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17151650	1.00[JPT][hapmap]
rs17151653	0.83[EUR][1000 genomes]
rs17151668	0.89[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs1833146	0.89[ASN][1000 genomes]
rs1966517	0.84[ASN][1000 genomes]
rs2016786	0.84[AFR][1000 genomes]
rs2402870	0.90[AFR][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs325438	0.89[ASN][1000 genomes]
rs325439	0.89[ASN][1000 genomes]
rs325443	0.89[ASN][1000 genomes]
rs325448	0.89[ASN][1000 genomes]
rs325449	0.89[ASN][1000 genomes]
rs325450	0.89[ASN][1000 genomes]
rs34026100	0.99[EUR][1000 genomes]
rs34688920	0.85[EUR][1000 genomes]
rs34839191	0.87[EUR][1000 genomes]
rs35154268	0.99[EUR][1000 genomes]
rs35660964	0.84[EUR][1000 genomes]
rs35940771	0.90[AFR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs41464647	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap]
rs4728078	0.89[ASN][1000 genomes]
rs4728082	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4731378	0.81[AFR][1000 genomes]
rs4731379	0.89[ASN][1000 genomes]
rs4731382	0.89[ASN][1000 genomes]
rs4731383	0.89[ASN][1000 genomes]
rs4731384	0.89[ASN][1000 genomes]
rs4731390	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4731391	1.00[JPT][hapmap]
rs55660321	0.94[EUR][1000 genomes]
rs58406876	0.91[EUR][1000 genomes]
rs6467142	0.89[ASN][1000 genomes]
rs6467145	0.83[AFR][1000 genomes]
rs6467146	0.89[ASN][1000 genomes]
rs6467147	0.89[ASN][1000 genomes]
rs6467149	0.89[ASN][1000 genomes]
rs6467150	0.89[ASN][1000 genomes]
rs6467151	0.89[ASN][1000 genomes]
rs6467154	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs67632185	0.86[EUR][1000 genomes]
rs67827668	0.99[EUR][1000 genomes]
rs6948605	0.82[EUR][1000 genomes]
rs6950211	0.89[ASN][1000 genomes]
rs6953231	0.82[MEX][hapmap];0.84[TSI][hapmap]
rs6953530	1.00[JPT][hapmap]
rs6959487	0.92[EUR][1000 genomes]
rs6962635	0.85[GIH][hapmap];0.84[TSI][hapmap]
rs6964714	0.84[ASN][1000 genomes]
rs6969880	0.88[AFR][1000 genomes]
rs6972398	0.84[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap]
rs6979918	0.89[ASN][1000 genomes]
rs698407	1.00[JPT][hapmap]
rs698409	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs712706	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs712708	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs712710	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs712711	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs712713	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs712714	1.00[JPT][hapmap]
rs712716	0.89[YRI][hapmap]
rs712717	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs712720	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73232968	0.85[EUR][1000 genomes]
rs73232972	0.81[EUR][1000 genomes]
rs73234873	0.85[EUR][1000 genomes]
rs73234874	0.84[EUR][1000 genomes]
rs741094	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs7785050	0.88[AFR][1000 genomes]
rs7785596	0.95[EUR][1000 genomes]
rs7791000	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7794303	0.84[ASN][1000 genomes]
rs7794328	0.84[ASN][1000 genomes]
rs7799882	0.90[AFR][1000 genomes]
rs7805021	0.89[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs7809182	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810024	0.99[EUR][1000 genomes]
rs806126	1.00[JPT][hapmap]
rs806163	1.00[JPT][hapmap]
rs806164	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs806167	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs806168	1.00[JPT][hapmap]
rs806171	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs894062	0.85[EUR][1000 genomes]
rs9649027	0.91[EUR][1000 genomes]
rs9649512	0.96[EUR][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	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7458839	GPR37	cis	cerebellum	SCAN
rs7458839	SND1	cis	Artery Tibial	GTEx
rs7458839	HYAL4	cis	cerebellum	SCAN
rs7458839	ARF5	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127457000-127497800	Weak transcription	Gastric	stomach
2	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
3	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine
8	chr7:127484000-127497800	Weak transcription	Lung	lung
9	chr7:127484600-127496600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:127484600-127497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:127484600-127497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:127484600-127497800	Weak transcription	NHEK	skin
13	chr7:127484600-127498000	Weak transcription	Left Ventricle	heart
14	chr7:127484600-127498800	Weak transcription	Esophagus	oesophagus
15	chr7:127484800-127498600	Weak transcription	Colonic Mucosa	Colon
16	chr7:127485000-127497800	Weak transcription	Pancreas	Pancrea
17	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
18	chr7:127485200-127498000	Weak transcription	Psoas Muscle	Psoas
19	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
20	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
22	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:127486200-127496600	Weak transcription	HSMMtube	muscle
24	chr7:127486200-127498000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:127486200-127498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:127486600-127497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:127486800-127497800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
29	chr7:127488200-127516400	Weak transcription	HMEC	breast
30	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:127488600-127498000	Weak transcription	Right Atrium	heart
32	chr7:127488600-127498800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:127488600-127499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:127489000-127498000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:127489000-127498200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:127489200-127498400	Weak transcription	Adipose Nuclei	Adipose
40	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:127489800-127497800	Weak transcription	HSMM	muscle
42	chr7:127490000-127496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:127490000-127498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:127490000-127500000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:127490400-127496400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:127490600-127496400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:127490800-127498000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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