Variant report

Variant	rs73869611
Chromosome Location	chr3:141166449-141166450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141087300..141088860-chr3:141163731..141166703,2	K562	blood:
2	chr3:141085567..141087136-chr3:141165758..141167599,2	K562	blood:
3	chr3:141159442..141161991-chr3:141166297..141167819,2	K562	blood:
4	chr3:141158978..141161991-chr3:141166297..141169047,4	K562	blood:

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11914783	1.00[EUR][1000 genomes]
rs11914819	1.00[EUR][1000 genomes]
rs11922466	1.00[EUR][1000 genomes]
rs56340836	1.00[EUR][1000 genomes]
rs58287573	1.00[EUR][1000 genomes]
rs58701841	1.00[EUR][1000 genomes]
rs58990624	1.00[EUR][1000 genomes]
rs59719153	1.00[EUR][1000 genomes]
rs60338048	1.00[EUR][1000 genomes]
rs73869545	1.00[EUR][1000 genomes]
rs73869578	1.00[EUR][1000 genomes]
rs73869616	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73869632	1.00[EUR][1000 genomes]
rs73869637	1.00[EUR][1000 genomes]
rs73869640	1.00[EUR][1000 genomes]
rs73869643	1.00[EUR][1000 genomes]
rs73869652	1.00[EUR][1000 genomes]
rs73869655	1.00[EUR][1000 genomes]
rs73869657	1.00[EUR][1000 genomes]
rs73869665	1.00[EUR][1000 genomes]
rs73869674	1.00[EUR][1000 genomes]
rs73871838	1.00[EUR][1000 genomes]
rs73871839	1.00[EUR][1000 genomes]
rs73871845	1.00[EUR][1000 genomes]
rs73871846	1.00[EUR][1000 genomes]
rs7619732	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:141155400-141170800	Weak transcription	Fetal Thymus	thymus
3	chr3:141156400-141166600	Strong transcription	Fetal Intestine Large	intestine
4	chr3:141160400-141166600	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:141160400-141166800	Strong transcription	A549	lung
6	chr3:141160400-141167400	Strong transcription	HSMM	muscle
7	chr3:141160400-141169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:141160400-141174000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:141160600-141166600	Strong transcription	HepG2	liver
10	chr3:141160600-141166800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr3:141160800-141166600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:141161000-141166800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:141161000-141166800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:141161200-141166600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:141161200-141166600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:141161200-141166600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr3:141161200-141166600	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:141161200-141166800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:141161200-141166800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:141161200-141166800	Strong transcription	Adipose Nuclei	Adipose
21	chr3:141161200-141166800	Strong transcription	Liver	Liver
22	chr3:141161200-141166800	Strong transcription	Fetal Brain Female	brain
23	chr3:141161200-141166800	Strong transcription	GM12878-XiMat	blood
24	chr3:141161200-141167400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:141161200-141169000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:141161400-141166600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr3:141161400-141166600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:141161400-141166600	Strong transcription	HSMMtube	muscle
29	chr3:141161400-141166800	Strong transcription	HUVEC	blood vessel
30	chr3:141161400-141166800	Strong transcription	NHEK	skin
31	chr3:141161400-141167000	Genic enhancers	NHLF	lung
32	chr3:141161600-141166800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:141161600-141166800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:141161600-141166800	Strong transcription	HMEC	breast
35	chr3:141161600-141167000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:141161600-141167200	Strong transcription	NH-A	brain
37	chr3:141161800-141166600	Strong transcription	Pancreas	Pancrea
38	chr3:141162200-141166800	Strong transcription	Fetal Lung	lung
39	chr3:141162400-141166600	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:141162400-141166800	Strong transcription	Placenta	Placenta
41	chr3:141162400-141170800	Weak transcription	Stomach Mucosa	stomach
42	chr3:141162600-141171200	Weak transcription	Thymus	Thymus
43	chr3:141162800-141166800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:141163000-141166600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:141163000-141174000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:141163200-141169200	Weak transcription	K562	blood
47	chr3:141163400-141167200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:141163400-141167800	Weak transcription	Fetal Heart	heart
49	chr3:141163400-141168400	Weak transcription	Hela-S3	cervix
50	chr3:141163600-141168200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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