Variant report

Variant	rs17151488
Chromosome Location	chr7:127531213-127531214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127525921..127528336-chr7:127531015..127533320,2	K562	blood:
2	chr7:127531050..127533876-chr7:127535094..127537920,2	MCF-7	breast:
3	chr7:127530901..127533766-chr7:127540275..127542321,2	K562	blood:
4	chr7:127525921..127529073-chr7:127530950..127533374,6	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10487499	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	1.00[ASN][1000 genomes]
rs12375023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.85[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]
rs12706816	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12706820	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.98[EUR][1000 genomes]
rs17151466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs17151653	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	1.00[YRI][hapmap]
rs17676654	1.00[ASN][1000 genomes]
rs34026100	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs55660321	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs67632185	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	0.98[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[CHB][hapmap];1.00[ASN][1000 genomes]
rs6959487	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	0.90[YRI][hapmap];0.80[AMR][1000 genomes]
rs73232968	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234873	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73234874	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs741094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.99[EUR][1000 genomes]
rs7785596	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7810024	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649027	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.96[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17151488	SND1	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
4	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:127524800-127538400	Weak transcription	Psoas Muscle	Psoas
8	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127525200-127536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:127526000-127535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:127526400-127531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:127526400-127531600	Strong transcription	NHEK	skin
14	chr7:127526400-127532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:127526400-127538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:127526600-127535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
18	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:127526800-127535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:127527000-127532800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:127527400-127531400	Weak transcription	HSMMtube	muscle
24	chr7:127527400-127532400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:127527400-127533600	Strong transcription	Primary T cells from cord blood	blood
26	chr7:127527600-127532800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:127527800-127532200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:127527800-127532600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:127527800-127532800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:127527800-127532800	Strong transcription	Dnd41	blood
31	chr7:127527800-127535000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:127528000-127532400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:127528000-127533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:127528400-127532200	Strong transcription	Hela-S3	cervix
35	chr7:127528800-127540400	Weak transcription	Colonic Mucosa	Colon
36	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:127529000-127531600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:127529000-127540200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
40	chr7:127529200-127531600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:127529200-127531600	Weak transcription	Aorta	Aorta
42	chr7:127529200-127531800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:127529200-127532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:127529200-127532000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:127529200-127532000	Weak transcription	Lung	lung
46	chr7:127529200-127532600	Weak transcription	NHLF	lung
47	chr7:127529200-127533200	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:127529200-127535400	Weak transcription	Left Ventricle	heart
49	chr7:127529200-127537400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:127529200-127540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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