Variant report

Variant	rs73406437
Chromosome Location	chr22:30754539-30754540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
2	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
3	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
4	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
5	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
6	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56927176	1.00[AMR][1000 genomes]
rs5753136	1.00[AMR][1000 genomes]
rs57813654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390212	1.00[AMR][1000 genomes]
rs73390232	1.00[AMR][1000 genomes]
rs73390250	1.00[AMR][1000 genomes]
rs73390257	1.00[AMR][1000 genomes]
rs73404588	1.00[AMR][1000 genomes]
rs73404596	1.00[AMR][1000 genomes]
rs73404601	1.00[AMR][1000 genomes]
rs73406424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406427	1.00[AMR][1000 genomes]
rs73406450	1.00[AMR][1000 genomes]
rs73406456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30761600	Weak transcription	Esophagus	oesophagus
3	chr22:30753400-30771400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
7	chr22:30753600-30754600	Enhancers	Dnd41	blood
8	chr22:30753600-30754800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:30753600-30755200	Enhancers	Fetal Intestine Large	intestine
10	chr22:30753600-30755400	Weak transcription	Fetal Stomach	stomach
11	chr22:30753600-30758200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:30753600-30758600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr22:30753600-30758600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:30753600-30761600	Weak transcription	Lung	lung
15	chr22:30753600-30761800	Weak transcription	Fetal Lung	lung
16	chr22:30753600-30762000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:30753600-30765800	Weak transcription	Fetal Kidney	kidney
18	chr22:30753600-30765800	Weak transcription	Pancreas	Pancrea
19	chr22:30753600-30766400	Weak transcription	Placenta	Placenta
20	chr22:30753600-30769200	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:30753600-30769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:30753600-30770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30753600-30770200	Weak transcription	Brain Substantia Nigra	brain
24	chr22:30753600-30771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:30753600-30772600	Weak transcription	NHLF	lung
26	chr22:30753600-30772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:30753600-30773000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:30753600-30773000	Weak transcription	Gastric	stomach
29	chr22:30753600-30773400	Weak transcription	Right Ventricle	heart
30	chr22:30753600-30775400	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:30753600-30775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:30753600-30776200	Weak transcription	Thymus	Thymus
33	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
34	chr22:30753600-30779400	Weak transcription	NHEK	skin
35	chr22:30753600-30779600	Weak transcription	NH-A	brain
36	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
37	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
40	chr22:30753800-30754600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:30753800-30754600	Enhancers	HepG2	liver
42	chr22:30753800-30755600	Enhancers	Fetal Intestine Small	intestine
43	chr22:30753800-30757800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:30753800-30768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:30753800-30773400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr22:30753800-30775400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr22:30754000-30754800	Enhancers	Fetal Brain Female	brain
48	chr22:30754000-30754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:30754000-30761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:30754000-30762000	Weak transcription	Spleen	Spleen

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