Variant report

Variant	rs990358
Chromosome Location	chr7:50817372-50817373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004402	0.84[EUR][1000 genomes]
rs1019002	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216232	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1024532	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548609	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17134002	0.88[YRI][hapmap]
rs2011899	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2108350	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190501	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190503	0.80[EUR][1000 genomes]
rs2237481	0.83[EUR][1000 genomes]
rs2237488	0.84[EUR][1000 genomes]
rs2301926	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301927	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329492	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329494	0.85[YRI][hapmap]
rs2529400	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529404	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529407	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529409	0.84[EUR][1000 genomes]
rs2715102	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715105	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715118	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2715125	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715134	0.84[EUR][1000 genomes]
rs3800999	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947432	1.00[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4947444	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs4947446	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947804	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947835	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947837	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947842	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947861	0.81[GIH][hapmap]
rs4947866	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947886	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947890	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947891	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593140	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593142	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593171	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945302	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973119	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978627	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757775	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783329	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7788180	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791286	0.85[CEU][hapmap]
rs886821	0.81[EUR][1000 genomes]
rs962508	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977791	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798600-50822600	Weak transcription	Ovary	ovary
2	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:50798800-50832400	Weak transcription	HSMM	muscle
4	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
5	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:50802600-50824000	Weak transcription	NH-A	brain
8	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
10	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:50808000-50817600	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:50808000-50818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:50808000-50818600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50808000-50821600	Weak transcription	Gastric	stomach
16	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
18	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
22	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:50809400-50822200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:50810800-50821200	Weak transcription	Primary T cells from cord blood	blood
26	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:50811000-50818800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:50811400-50818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:50811400-50821600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:50811600-50821000	Weak transcription	Fetal Intestine Large	intestine
33	chr7:50811800-50820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:50812000-50818200	Weak transcription	Psoas Muscle	Psoas
35	chr7:50812200-50822600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:50812600-50828200	Weak transcription	K562	blood
37	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
38	chr7:50812800-50821200	Weak transcription	Osteobl	bone
39	chr7:50813800-50824600	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:50814200-50817400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:50814400-50824600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
43	chr7:50814800-50828400	Weak transcription	Fetal Brain Male	brain
44	chr7:50815000-50822400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:50815000-50834400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:50815400-50818800	Strong transcription	Liver	Liver
47	chr7:50815600-50821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:50815800-50819600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:50815800-50820200	Weak transcription	Spleen	Spleen
50	chr7:50815800-50821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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