Variant report

Variant	rs2806430
Chromosome Location	chr1:61764006-61764007
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	chr1:61763708..61766352-chr1:61769813..61772116,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INADL-6	chr1:61760224-61764056	NONHSAT003604

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2243874	0.97[EUR][1000 genomes]
rs2806427	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2806428	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2806431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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 target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv947263	chr1:61762296-61765815	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61751400-61767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:61753800-61764600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:61753800-61765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:61755600-61764800	Weak transcription	K562	blood
6	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
7	chr1:61756000-61768400	Enhancers	HepG2	liver
8	chr1:61759200-61764600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:61759200-61765000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:61759200-61766800	Weak transcription	Right Ventricle	heart
11	chr1:61759200-61767400	Weak transcription	Right Atrium	heart
12	chr1:61759600-61767000	Weak transcription	Fetal Heart	heart
13	chr1:61759600-61767600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:61759600-61775800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:61760200-61764800	Weak transcription	Fetal Lung	lung
16	chr1:61760200-61766800	Weak transcription	NHEK	skin
17	chr1:61760400-61764800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:61760800-61764600	Weak transcription	A549	lung
19	chr1:61760800-61766800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:61760800-61767600	Weak transcription	HMEC	breast
21	chr1:61760800-61780800	Weak transcription	Fetal Brain Male	brain
22	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:61761000-61764800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:61761000-61765400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:61761400-61767400	Weak transcription	Left Ventricle	heart
26	chr1:61761800-61767400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:61761800-61767400	Weak transcription	Gastric	stomach
28	chr1:61761800-61767400	Weak transcription	Psoas Muscle	Psoas
29	chr1:61762200-61767600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:61762600-61764200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:61762600-61771800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:61762600-61772200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:61762800-61766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:61763000-61764800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:61763200-61764200	Weak transcription	Brain Anterior Caudate	brain
36	chr1:61763200-61766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:61763200-61767400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:61763200-61767800	Enhancers	Liver	Liver
39	chr1:61763400-61765000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:61763600-61764400	Enhancers	Aorta	Aorta
41	chr1:61763600-61764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:61763600-61767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:61763800-61766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:61763800-61766800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:61763800-61767000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:61763800-61767400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:61763800-61767400	Weak transcription	Pancreas	Pancrea
48	chr1:61764000-61765200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:61764000-61767400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:61764000-61767400	Weak transcription	Fetal Muscle Leg	muscle

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