Variant report

Variant	rs2011899
Chromosome Location	chr7:50762045-50762046
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50739761..50742515-chr7:50760323..50762831,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1004402	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1019002	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10216232	0.93[EUR][1000 genomes]
rs1024532	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2108350	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190503	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237469	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237481	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237488	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2329492	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529402	0.90[AFR][1000 genomes]
rs2529404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529409	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715103	0.90[AFR][1000 genomes]
rs2715105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715110	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715118	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715128	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715134	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800999	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947432	0.99[EUR][1000 genomes]
rs4947444	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947446	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947804	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947835	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947836	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947837	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947842	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6593140	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6593142	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6593171	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6945302	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6973119	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978627	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs757775	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs886821	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs962508	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs977791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990358	0.84[EUR][1000 genomes];0.84[ASN][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	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
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50742200-50765200	Weak transcription	NHLF	lung
3	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
4	chr7:50742600-50763000	Weak transcription	HSMM	muscle
5	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:50745800-50769600	Weak transcription	Gastric	stomach
7	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
8	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
13	chr7:50755600-50765200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:50755600-50768400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:50755800-50768400	Weak transcription	A549	lung
16	chr7:50756200-50764600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:50756200-50770000	Weak transcription	NHDF-Ad	bronchial
18	chr7:50756200-50779200	Weak transcription	Osteobl	bone
19	chr7:50756400-50769800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:50756400-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:50757000-50771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
23	chr7:50757400-50764600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:50757400-50765400	Weak transcription	Ovary	ovary
25	chr7:50757400-50771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
27	chr7:50757600-50762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:50757600-50768200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:50757600-50768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:50757800-50762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:50758800-50763200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:50758800-50765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:50758800-50765200	Weak transcription	Fetal Brain Female	brain
34	chr7:50758800-50771600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
36	chr7:50759200-50768200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:50759200-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:50760000-50763000	Genic enhancers	HUVEC	blood vessel
39	chr7:50760000-50763200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:50760400-50764600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:50760600-50762400	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:50760800-50762400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:50760800-50764000	Strong transcription	K562	blood
44	chr7:50761000-50762200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:50761000-50763000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:50761200-50762200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:50761200-50762200	Enhancers	Fetal Heart	heart
48	chr7:50761200-50762400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:50761200-50764200	Enhancers	Liver	Liver
50	chr7:50761400-50762400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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