Variant report

Variant	rs41292649
Chromosome Location	chr1:94018031-94018032
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	chr1:93909973..93912859-chr1:94016943..94019363,2	K562	blood:
2	chr1:94011680..94014133-chr1:94017595..94019944,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17110076	0.81[EUR][1000 genomes]
rs2295330	0.81[EUR][1000 genomes]
rs3754189	0.81[EUR][1000 genomes]
rs6541380	0.86[EUR][1000 genomes]
rs6674143	0.81[EUR][1000 genomes]
rs6699020	0.86[EUR][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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93992200-94018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:93997600-94018200	Weak transcription	A549	lung
5	chr1:94008400-94018400	Weak transcription	Right Ventricle	heart
6	chr1:94010400-94021800	Weak transcription	Lung	lung
7	chr1:94011000-94018200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:94011800-94018600	Weak transcription	Colonic Mucosa	Colon
9	chr1:94012200-94019000	Strong transcription	Dnd41	blood
10	chr1:94012400-94019000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:94012600-94018200	Strong transcription	Fetal Intestine Large	intestine
12	chr1:94012800-94018200	Weak transcription	Fetal Thymus	thymus
13	chr1:94012800-94019000	Strong transcription	Liver	Liver
14	chr1:94012800-94024800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:94013200-94019400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:94014000-94025200	Weak transcription	Aorta	Aorta
17	chr1:94014200-94018400	Weak transcription	Placenta	Placenta
18	chr1:94014200-94019200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:94014400-94018200	Strong transcription	Fetal Brain Female	brain
20	chr1:94014600-94025000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:94015200-94018600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:94015800-94018200	Weak transcription	Pancreas	Pancrea
23	chr1:94015800-94019200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:94015800-94019600	Weak transcription	Hela-S3	cervix
25	chr1:94016000-94018400	Weak transcription	Fetal Brain Male	brain
26	chr1:94016000-94025200	Weak transcription	Ovary	ovary
27	chr1:94016200-94018400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:94016600-94019000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:94016800-94018200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:94016800-94018200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:94016800-94018200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:94016800-94019000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:94016800-94019200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:94016800-94019200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:94016800-94031600	Weak transcription	Fetal Stomach	stomach
36	chr1:94017000-94018200	Weak transcription	Fetal Kidney	kidney
37	chr1:94017000-94018200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:94017000-94018400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:94017000-94018600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:94017200-94018600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:94017200-94019000	Genic enhancers	H1 Cell Line	embryonic stem cell
42	chr1:94017200-94019200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:94017200-94019400	Enhancers	Osteobl	bone
44	chr1:94017200-94019800	Enhancers	HUVEC	blood vessel
45	chr1:94017200-94020400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:94017200-94021400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:94017400-94018200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:94017400-94018200	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:94017400-94018400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:94017400-94018400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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