Variant report

Variant	rs7785050
Chromosome Location	chr7:127450559-127450560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127432019..127433909-chr7:127448811..127450674,2	K562	blood:
2	chr7:127449157..127451267-chr7:127479251..127481179,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10251423	0.98[EUR][1000 genomes]
rs10251548	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255861	0.90[JPT][hapmap]
rs10260037	0.90[JPT][hapmap]
rs1029927	0.97[EUR][1000 genomes]
rs10954163	0.93[EUR][1000 genomes]
rs11521053	0.95[EUR][1000 genomes]
rs11971935	0.91[EUR][1000 genomes]
rs11972774	0.92[EUR][1000 genomes]
rs11976841	0.88[EUR][1000 genomes]
rs11976946	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs11977915	0.90[JPT][hapmap]
rs11980318	0.90[JPT][hapmap]
rs12531440	0.94[EUR][1000 genomes]
rs12533846	0.95[EUR][1000 genomes]
rs12536253	0.85[YRI][hapmap]
rs12539728	0.91[EUR][1000 genomes]
rs12540865	0.95[EUR][1000 genomes]
rs13236900	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs13237048	0.92[EUR][1000 genomes]
rs1362268	0.90[JPT][hapmap]
rs1362897	0.89[JPT][hapmap]
rs141450	0.99[EUR][1000 genomes]
rs16885524	0.88[EUR][1000 genomes]
rs17151241	0.92[EUR][1000 genomes]
rs17151270	0.93[EUR][1000 genomes]
rs17676986	0.90[JPT][hapmap]
rs17716738	0.90[JPT][hapmap]
rs1860934	0.98[EUR][1000 genomes]
rs1881084	0.89[EUR][1000 genomes]
rs2014583	0.92[EUR][1000 genomes]
rs2016786	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043982	0.87[EUR][1000 genomes]
rs2119452	0.88[EUR][1000 genomes]
rs2119453	0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs2141259	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2402866	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2402867	0.88[EUR][1000 genomes]
rs2402870	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325440	0.99[EUR][1000 genomes]
rs325442	0.98[EUR][1000 genomes]
rs325444	0.98[EUR][1000 genomes]
rs325445	0.99[EUR][1000 genomes]
rs325446	0.99[EUR][1000 genomes]
rs325447	0.98[EUR][1000 genomes]
rs325451	0.98[EUR][1000 genomes]
rs35121681	0.92[EUR][1000 genomes]
rs35176520	0.88[EUR][1000 genomes]
rs35940771	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971861	0.86[EUR][1000 genomes]
rs3779529	0.97[EUR][1000 genomes]
rs3779530	0.97[EUR][1000 genomes]
rs3808073	0.90[JPT][hapmap]
rs3808092	0.95[EUR][1000 genomes]
rs3808093	0.85[EUR][1000 genomes]
rs3808095	0.92[EUR][1000 genomes]
rs3808097	0.92[EUR][1000 genomes]
rs3808106	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs3808107	0.88[EUR][1000 genomes]
rs3808112	0.88[EUR][1000 genomes]
rs3824000	0.90[JPT][hapmap]
rs4731376	0.88[EUR][1000 genomes]
rs4731378	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694225	0.87[EUR][1000 genomes]
rs56306023	0.83[EUR][1000 genomes]
rs58583807	0.93[EUR][1000 genomes]
rs6467145	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948493	0.90[JPT][hapmap]
rs6961381	0.93[EUR][1000 genomes]
rs6963455	0.95[EUR][1000 genomes]
rs6963614	0.90[JPT][hapmap]
rs6968199	0.95[EUR][1000 genomes]
rs6969880	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712712	0.88[EUR][1000 genomes]
rs712716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73234880	0.88[EUR][1000 genomes]
rs73234882	0.89[EUR][1000 genomes]
rs741599	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs7458839	0.88[AFR][1000 genomes]
rs759843	0.89[EUR][1000 genomes]
rs7797663	0.92[EUR][1000 genomes]
rs7799882	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.82[ASW][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs887745	0.90[JPT][hapmap]
rs917831	0.90[JPT][hapmap]
rs917832	0.98[EUR][1000 genomes]
rs918793	0.92[EUR][1000 genomes]
rs972088	0.92[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs972089	0.88[EUR][1000 genomes]
rs972090	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
rs7785050	SND1	cis	parietal	SCAN
rs7785050	LRRC4	cis	parietal	SCAN
rs7785050	GPR37	cis	cerebellum	SCAN
rs7785050	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:127437200-127455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:127439400-127455400	Weak transcription	Pancreas	Pancrea
5	chr7:127440200-127452600	Weak transcription	Psoas Muscle	Psoas
6	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127440400-127452200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:127440400-127452200	Weak transcription	Fetal Lung	lung
9	chr7:127441200-127460000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:127441400-127458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:127441600-127452400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:127443200-127460200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:127443400-127452000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:127444600-127451800	Strong transcription	HepG2	liver
15	chr7:127444800-127453600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:127446600-127452200	Weak transcription	Fetal Kidney	kidney
17	chr7:127446600-127455800	Weak transcription	Fetal Heart	heart
18	chr7:127446600-127456200	Weak transcription	Esophagus	oesophagus
19	chr7:127447400-127450600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:127447400-127451600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:127447600-127450800	Strong transcription	Dnd41	blood
22	chr7:127447600-127451200	Strong transcription	Primary B cells from cord blood	blood
23	chr7:127447600-127452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:127447600-127453600	Strong transcription	Primary T cells from cord blood	blood
25	chr7:127448000-127452200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:127448000-127459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:127448200-127450600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:127448400-127452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
30	chr7:127448600-127452600	Genic enhancers	K562	blood
31	chr7:127448600-127459600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:127448800-127450600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:127448800-127450800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:127448800-127451200	Enhancers	NHDF-Ad	bronchial
35	chr7:127448800-127451400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:127449000-127451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:127449200-127451400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:127449200-127459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:127449200-127460000	Weak transcription	NH-A	brain
41	chr7:127449200-127460400	Weak transcription	Placenta	Placenta
42	chr7:127449400-127455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:127449400-127458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:127449400-127460000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:127449600-127451200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:127449600-127451600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:127449600-127451800	Weak transcription	Thymus	Thymus
48	chr7:127449600-127452200	Weak transcription	Ovary	ovary
49	chr7:127449600-127452400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:127449600-127452600	Weak transcription	Spleen	Spleen

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