Variant report

Variant	rs73430293
Chromosome Location	chr6:53730336-53730337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53659174..53661919-chr6:53730031..53734887,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56044016	0.82[AFR][1000 genomes]
rs56093057	1.00[AFR][1000 genomes]
rs60637604	0.92[AFR][1000 genomes]
rs6933638	0.92[AFR][1000 genomes]
rs73430206	0.92[AFR][1000 genomes]
rs73430273	1.00[AFR][1000 genomes]
rs73430278	1.00[AFR][1000 genomes]
rs73430284	1.00[AFR][1000 genomes]
rs73430290	1.00[AFR][1000 genomes]
rs73430291	0.92[AFR][1000 genomes]
rs73430295	0.96[AFR][1000 genomes]
rs73430297	0.96[AFR][1000 genomes]
rs73430300	1.00[AFR][1000 genomes]
rs73741372	1.00[AFR][1000 genomes]
rs7770003	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53695000-53743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:53709800-53762200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:53717800-53731800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:53719800-53747800	Weak transcription	Primary T cells from cord blood	blood
5	chr6:53720600-53741400	Weak transcription	Dnd41	blood
6	chr6:53720800-53736600	Weak transcription	Fetal Thymus	thymus
7	chr6:53722000-53748200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:53723400-53736800	Weak transcription	Stomach Mucosa	stomach
9	chr6:53725400-53730400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:53726600-53730400	Enhancers	Fetal Brain Male	brain
11	chr6:53727600-53730400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:53727600-53731200	Weak transcription	Aorta	Aorta
13	chr6:53727600-53751800	Weak transcription	Thymus	Thymus
14	chr6:53728000-53731400	Enhancers	Brain Substantia Nigra	brain
15	chr6:53728200-53732000	Enhancers	Brain Hippocampus Middle	brain
16	chr6:53728200-53734200	Weak transcription	HUVEC	blood vessel
17	chr6:53728400-53731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:53728400-53731400	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:53728400-53734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:53728600-53730800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:53728600-53738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:53728600-53738600	Weak transcription	NHEK	skin
23	chr6:53728800-53730400	Enhancers	Fetal Heart	heart
24	chr6:53729000-53732200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:53729000-53733600	Weak transcription	Fetal Stomach	stomach
26	chr6:53729000-53734800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:53729000-53734800	Weak transcription	HMEC	breast
28	chr6:53729400-53731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:53729400-53736600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:53729400-53738800	Weak transcription	Pancreas	Pancrea
31	chr6:53729400-53748000	Weak transcription	HepG2	liver
32	chr6:53729600-53734400	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:53729800-53734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:53730000-53731000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:53730000-53731000	Weak transcription	HSMMtube	muscle
36	chr6:53730000-53734800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:53730200-53731200	Enhancers	Brain Germinal Matrix	brain
38	chr6:53730200-53748200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:53730200-53758800	Weak transcription	Brain Anterior Caudate	brain

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