Variant report

Variant	rs2044620
Chromosome Location	chr3:119031141-119031142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119011664..119014581-chr3:119029307..119032629,3	MCF-7	breast:
2	chr3:119028893..119037158-chr3:119037697..119043591,18	MCF-7	breast:
3	chr3:118969877..118972068-chr3:119030685..119033173,2	K562	blood:
4	chr3:119030074..119031736-chr3:119039533..119042387,2	K562	blood:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1375134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637171	0.81[EUR][1000 genomes]
rs7650193	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935619	0.91[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119014200-119032800	Weak transcription	Pancreas	Pancrea
2	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
3	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
4	chr3:119016000-119035400	Weak transcription	Fetal Brain Male	brain
5	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:119017400-119040600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:119017600-119032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:119018800-119032800	Weak transcription	Thymus	Thymus
11	chr3:119019200-119040800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:119020400-119040600	Weak transcription	Esophagus	oesophagus
13	chr3:119020800-119032400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:119021000-119032400	Weak transcription	Primary T cells from cord blood	blood
15	chr3:119021200-119041000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:119021200-119041000	Weak transcription	Fetal Thymus	thymus
17	chr3:119022000-119032400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:119022200-119040800	Weak transcription	Brain Angular Gyrus	brain
19	chr3:119022400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:119022400-119041000	Weak transcription	Primary B cells from cord blood	blood
21	chr3:119022400-119041000	Weak transcription	Fetal Intestine Large	intestine
22	chr3:119022400-119041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:119022600-119032600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:119022600-119040600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:119023600-119032800	Weak transcription	Ovary	ovary
26	chr3:119024400-119040600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:119024800-119032400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:119024800-119032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:119024800-119032800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:119024800-119040600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:119024800-119041000	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:119024800-119041000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:119025000-119040800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:119026800-119034600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:119027600-119031200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:119027600-119033800	Weak transcription	Brain Substantia Nigra	brain
37	chr3:119027600-119041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:119028000-119031200	Enhancers	HMEC	breast
39	chr3:119028200-119032800	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:119028400-119031200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:119029000-119031200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:119029000-119031400	Enhancers	NHEK	skin
43	chr3:119029200-119032400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:119029400-119031200	Enhancers	HSMMtube	muscle
45	chr3:119029400-119039000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:119029600-119031200	Flanking Active TSS	NH-A	brain
47	chr3:119029600-119033000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:119029600-119041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:119029800-119033200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:119030000-119031200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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