Variant report

Variant	rs12706816
Chromosome Location	chr7:127495198-127495199
allele	A/G
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	chr7:127493526..127496139-chr7:127503216..127505178,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10251423	0.82[AFR][1000 genomes]
rs10487499	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	1.00[ASN][1000 genomes]
rs12375023	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540357	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12706820	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.98[EUR][1000 genomes]
rs17151466	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.83[EUR][1000 genomes]
rs17151653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	1.00[ASN][1000 genomes]
rs17676654	1.00[ASN][1000 genomes]
rs327508	1.00[ASN][1000 genomes]
rs34026100	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55660321	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	1.00[ASN][1000 genomes]
rs6467157	1.00[ASN][1000 genomes]
rs67632185	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	1.00[ASN][1000 genomes]
rs6959487	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232968	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234873	0.87[EUR][1000 genomes]
rs73234874	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	1.00[ASN][1000 genomes]
rs741094	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.99[EUR][1000 genomes]
rs7785596	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.99[EUR][1000 genomes]
rs7810024	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649027	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.93[AMR][1000 genomes];0.96[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706816	SND1	cis	Artery Tibial	GTEx

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	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
4	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:127481800-127495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine
11	chr7:127483600-127495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:127484000-127497800	Weak transcription	Lung	lung
13	chr7:127484600-127496600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:127484600-127497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:127484600-127497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:127484600-127497800	Weak transcription	NHEK	skin
17	chr7:127484600-127498000	Weak transcription	Left Ventricle	heart
18	chr7:127484600-127498800	Weak transcription	Esophagus	oesophagus
19	chr7:127484800-127498600	Weak transcription	Colonic Mucosa	Colon
20	chr7:127485000-127497800	Weak transcription	Pancreas	Pancrea
21	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
22	chr7:127485200-127498000	Weak transcription	Psoas Muscle	Psoas
23	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
24	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
26	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:127486200-127496600	Weak transcription	HSMMtube	muscle
28	chr7:127486200-127498000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:127486200-127498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:127486600-127497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:127486800-127497800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
33	chr7:127488200-127516400	Weak transcription	HMEC	breast
34	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:127488600-127495600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:127488600-127498000	Weak transcription	Right Atrium	heart
37	chr7:127488600-127498800	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:127488600-127499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:127488800-127495600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:127489000-127498000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:127489000-127498200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:127489200-127498400	Weak transcription	Adipose Nuclei	Adipose
46	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127489800-127497800	Weak transcription	HSMM	muscle
48	chr7:127490000-127496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:127490000-127498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:127490000-127500000	Weak transcription	Duodenum Mucosa	Duodenum

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