Variant report

Variant	rs2016682
Chromosome Location	chr2:47388844-47388845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47383453..47385887-chr2:47388520..47390045,2	MCF-7	breast:
2	chr2:47337732..47340513-chr2:47388234..47390439,2	MCF-7	breast:
3	chr2:47381317..47383359-chr2:47387772..47390474,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239605	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13388457	1.00[JPT][hapmap]
rs13397696	1.00[CHB][hapmap]
rs13413278	1.00[CHB][hapmap]
rs17036300	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4953469	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4953470	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4953471	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4953472	1.00[ASN][1000 genomes]
rs56875665	1.00[ASN][1000 genomes]
rs6544960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs6749284	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6760339	0.90[ASN][1000 genomes]
rs72810417	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	nsv961406	chr2:47388456-47390181	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47366200-47397000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:47366800-47399400	Strong transcription	Fetal Thymus	thymus
3	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
5	chr2:47369800-47391200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:47370000-47389600	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr2:47371600-47389800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:47371800-47392200	Strong transcription	Osteobl	bone
9	chr2:47372600-47396800	Weak transcription	Small Intestine	intestine
10	chr2:47375600-47397400	Weak transcription	Fetal Brain Male	brain
11	chr2:47376400-47389800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:47378400-47392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:47378600-47389800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:47380200-47391400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:47381400-47389600	Strong transcription	Fetal Brain Female	brain
16	chr2:47381600-47390400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:47382000-47391000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:47382200-47390000	Strong transcription	NHLF	lung
19	chr2:47382600-47391400	Strong transcription	NH-A	brain
20	chr2:47382600-47398200	Weak transcription	Aorta	Aorta
21	chr2:47382800-47390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47382800-47390600	Weak transcription	Spleen	Spleen
23	chr2:47383800-47390200	Strong transcription	Primary B cells from cord blood	blood
24	chr2:47384000-47389800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:47384400-47390000	Genic enhancers	A549	lung
26	chr2:47384400-47391800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:47384400-47397200	Weak transcription	Right Atrium	heart
28	chr2:47384600-47389800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:47384600-47390800	Strong transcription	HUVEC	blood vessel
30	chr2:47384600-47391000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:47384600-47393200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:47384800-47390400	Strong transcription	GM12878-XiMat	blood
33	chr2:47384800-47397600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:47385000-47390400	Strong transcription	NHDF-Ad	bronchial
35	chr2:47385000-47390600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:47385000-47391000	Strong transcription	Fetal Lung	lung
37	chr2:47385000-47392400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:47385000-47398000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:47385200-47390200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:47385200-47392000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:47385200-47392400	Strong transcription	Primary T cells from cord blood	blood
42	chr2:47385200-47392400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:47385200-47393200	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:47385400-47389800	Strong transcription	Colon Smooth Muscle	Colon
45	chr2:47385400-47390000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:47385400-47390200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:47385400-47390200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:47385400-47390800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:47385400-47391800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:47385400-47392000	Strong transcription	Hela-S3	cervix

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