Variant report

Variant	rs11650022
Chromosome Location	chr17:45373142-45373143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
2	chr17:45363175..45368028-chr17:45369299..45373237,4	K562	blood:
3	chr17:45371857..45373419-chr17:45389135..45391339,2	K562	blood:
4	chr17:45372166..45375464-chr17:45377689..45379653,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17218711	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5918	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074395	0.83[EUR][1000 genomes]
rs62074396	0.89[EUR][1000 genomes]
rs62074428	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214096	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223956	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069732	0.93[EUR][1000 genomes];1.00[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
2	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
3	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
6	chr17:45369600-45373600	Strong transcription	Placenta	Placenta
7	chr17:45369800-45373400	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:45370000-45376600	Weak transcription	Pancreas	Pancrea
9	chr17:45370000-45378000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:45371000-45377200	Weak transcription	Fetal Heart	heart
11	chr17:45371200-45374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr17:45371200-45374000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr17:45371400-45374400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr17:45371400-45374400	Enhancers	Brain Hippocampus Middle	brain
15	chr17:45371400-45393000	Weak transcription	Dnd41	blood
16	chr17:45371600-45373400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45371600-45373400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45371600-45374000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:45371600-45374000	Enhancers	Brain Cingulate Gyrus	brain
20	chr17:45371600-45374000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:45371600-45374000	Enhancers	Brain Substantia Nigra	brain
22	chr17:45371600-45374200	Enhancers	Brain Angular Gyrus	brain
23	chr17:45371600-45374400	Enhancers	Brain Anterior Caudate	brain
24	chr17:45371800-45373200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr17:45371800-45373600	Enhancers	Lung	lung
26	chr17:45371800-45373600	Enhancers	Right Atrium	heart
27	chr17:45371800-45373600	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr17:45371800-45373800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:45371800-45373800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr17:45371800-45374000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:45372000-45373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:45372000-45373600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45372000-45373600	Enhancers	Spleen	Spleen
34	chr17:45372200-45373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:45372200-45375400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:45372200-45375800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:45372400-45373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:45372400-45373600	Enhancers	Adipose Nuclei	Adipose
39	chr17:45372400-45376600	Weak transcription	Fetal Intestine Small	intestine
40	chr17:45372400-45383600	Weak transcription	Gastric	stomach
41	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
42	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:45372600-45373400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr17:45372600-45373400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:45372600-45374400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:45372600-45374400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:45372600-45375400	Weak transcription	Primary B cells from cord blood	blood
49	chr17:45372600-45376600	Weak transcription	Liver	Liver
50	chr17:45372600-45377200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links