Variant report

Variant	rs73430273
Chromosome Location	chr6:53697914-53697915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
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]
rs73430278	1.00[AFR][1000 genomes]
rs73430284	1.00[AFR][1000 genomes]
rs73430290	1.00[AFR][1000 genomes]
rs73430291	0.92[AFR][1000 genomes]
rs73430293	1.00[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:2 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53680400-53721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:53684000-53710200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:53687600-53702000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:53689400-53699400	Enhancers	Fetal Intestine Large	intestine
5	chr6:53690000-53699000	Enhancers	Fetal Intestine Small	intestine
6	chr6:53692600-53702600	Weak transcription	Aorta	Aorta
7	chr6:53693400-53700800	Weak transcription	Pancreas	Pancrea
8	chr6:53693400-53701400	Weak transcription	HSMM	muscle
9	chr6:53693400-53720000	Weak transcription	Left Ventricle	heart
10	chr6:53693600-53698800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:53694000-53698600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:53694000-53699000	Weak transcription	Right Atrium	heart
13	chr6:53694000-53708400	Weak transcription	Fetal Thymus	thymus
14	chr6:53695000-53698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:53695000-53702600	Weak transcription	Gastric	stomach
16	chr6:53695000-53705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:53695000-53710000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:53695000-53719800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:53695000-53743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:53695200-53698600	Weak transcription	Brain Angular Gyrus	brain
21	chr6:53695400-53698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:53695600-53698800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:53695600-53700800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:53696000-53701400	Enhancers	Brain Hippocampus Middle	brain
25	chr6:53696200-53702600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:53696400-53699000	Weak transcription	HepG2	liver
27	chr6:53696400-53708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:53696600-53702600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:53696800-53698000	Weak transcription	Small Intestine	intestine
30	chr6:53696800-53698200	Enhancers	HSMMtube	muscle
31	chr6:53696800-53698800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:53696800-53699400	Enhancers	NHEK	skin
33	chr6:53696800-53699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:53697000-53698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:53697000-53698400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:53697000-53700200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:53697200-53698000	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:53697200-53699000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:53697200-53699400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:53697200-53699400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:53697200-53718600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:53697600-53698800	Enhancers	Brain Anterior Caudate	brain
43	chr6:53697800-53698000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:53697800-53698000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:53697800-53698000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:53697800-53698000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:53697800-53698000	Enhancers	Colon Smooth Muscle	Colon
48	chr6:53697800-53698000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:53697800-53698200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:53697800-53698200	Enhancers	Duodenum Smooth Muscle	Duodenum

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