Variant report

Variant	rs17449259
Chromosome Location	chr7:50733714-50733715
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50732851..50735812-chr7:50737426..50740683,4	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes]
rs12530497	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes]
rs17450294	1.00[AFR][1000 genomes]
rs17544866	0.87[AMR][1000 genomes]
rs17544971	0.87[AMR][1000 genomes]
rs17545714	0.87[AMR][1000 genomes]
rs17546034	0.87[AMR][1000 genomes]
rs17546062	0.87[AMR][1000 genomes]
rs17546146	0.87[AMR][1000 genomes]
rs17546202	0.87[AMR][1000 genomes]
rs17546223	0.87[AMR][1000 genomes]
rs17547506	1.00[AFR][1000 genomes]
rs17547664	1.00[AFR][1000 genomes]
rs17548938	1.00[AFR][1000 genomes]
rs2286155	1.00[AFR][1000 genomes]
rs3819431	0.87[AMR][1000 genomes]
rs41430449	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4245558	1.00[AFR][1000 genomes]
rs4612291	0.84[AMR][1000 genomes]
rs4947463	1.00[AFR][1000 genomes]
rs4947832	1.00[AFR][1000 genomes]
rs4947834	1.00[AFR][1000 genomes]
rs4947844	1.00[AFR][1000 genomes]
rs4947854	1.00[AFR][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4947887	1.00[AFR][1000 genomes]
rs55716906	0.87[AMR][1000 genomes]
rs55857758	0.87[AMR][1000 genomes]
rs56037477	0.87[AMR][1000 genomes]
rs56118724	1.00[AFR][1000 genomes]
rs57219566	1.00[AFR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes]
rs60210111	1.00[AFR][1000 genomes]
rs61618565	1.00[AFR][1000 genomes]
rs73113031	0.87[AMR][1000 genomes]
rs73113047	0.87[AMR][1000 genomes]
rs73113061	0.87[AMR][1000 genomes]
rs73113067	0.83[AMR][1000 genomes]
rs73113068	0.83[AMR][1000 genomes]
rs73113089	0.87[AMR][1000 genomes]
rs73113093	0.87[AMR][1000 genomes]
rs73113096	0.87[AMR][1000 genomes]
rs73113099	0.87[AMR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes]
rs73113855	1.00[AFR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes]
rs73113863	1.00[AFR][1000 genomes]
rs73114804	0.84[AMR][1000 genomes]
rs73114807	0.87[AMR][1000 genomes]
rs73114809	0.80[AMR][1000 genomes]
rs73114873	0.87[AMR][1000 genomes]
rs73114877	0.91[AMR][1000 genomes]
rs73114878	0.82[AMR][1000 genomes]
rs73114889	0.84[AMR][1000 genomes]
rs73114899	0.80[AMR][1000 genomes]
rs73116823	1.00[AFR][1000 genomes]
rs73116829	1.00[AFR][1000 genomes]
rs73116888	1.00[AFR][1000 genomes]
rs73116890	1.00[AFR][1000 genomes]
rs73118808	1.00[AFR][1000 genomes]
rs73118814	1.00[AFR][1000 genomes]
rs73118816	1.00[AFR][1000 genomes]
rs73118830	1.00[AFR][1000 genomes]
rs73118836	1.00[AFR][1000 genomes]
rs73122773	1.00[AFR][1000 genomes]
rs73122790	1.00[AFR][1000 genomes]
rs73122793	1.00[AFR][1000 genomes]
rs73122798	1.00[AFR][1000 genomes]
rs73124711	1.00[AFR][1000 genomes]
rs73124720	1.00[AFR][1000 genomes]
rs7456111	0.87[AMR][1000 genomes]
rs956117	0.87[AMR][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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:50720600-50739400	Enhancers	Right Atrium	heart
8	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:50723600-50735200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:50725400-50737600	Enhancers	Psoas Muscle	Psoas
12	chr7:50726000-50734200	Weak transcription	Fetal Heart	heart
13	chr7:50726000-50734600	Strong transcription	Fetal Stomach	stomach
14	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
15	chr7:50726600-50734800	Weak transcription	Fetal Lung	lung
16	chr7:50727200-50734600	Genic enhancers	Pancreas	Pancrea
17	chr7:50727400-50734600	Strong transcription	Fetal Intestine Small	intestine
18	chr7:50727800-50737400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:50728400-50737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:50728800-50735400	Weak transcription	Colonic Mucosa	Colon
21	chr7:50729200-50737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50729400-50734400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:50729800-50736000	Enhancers	Brain Hippocampus Middle	brain
24	chr7:50729800-50741600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:50730000-50734200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:50730000-50736600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:50730000-50737200	Enhancers	Left Ventricle	heart
28	chr7:50730200-50734000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
30	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:50730400-50738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:50731000-50734400	Enhancers	Esophagus	oesophagus
33	chr7:50731000-50741400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:50731200-50735400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:50731400-50733800	Weak transcription	Primary T cells from cord blood	blood
36	chr7:50731400-50735200	Weak transcription	Placenta	Placenta
37	chr7:50731400-50737600	Weak transcription	Thymus	Thymus
38	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:50731600-50734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:50731600-50735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:50731600-50735000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:50731600-50735400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:50731600-50735600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:50731800-50733800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:50731800-50734000	Enhancers	HMEC	breast
46	chr7:50731800-50734200	Enhancers	NH-A	brain
47	chr7:50731800-50734800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:50731800-50734800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:50731800-50735000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:50731800-50735800	Enhancers	HUVEC	blood vessel

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