Variant report

Variant	rs28382910
Chromosome Location	chr2:100045511-100045512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100040660..100042299-chr2:100044487..100046837,3	K562	blood:
2	chr2:100039263..100041447-chr2:100045506..100047430,2	MCF-7	breast:
3	chr2:100040044..100044380-chr2:100044487..100048478,6	K562	blood:
4	chr2:100043076..100046018-chr2:100104970..100106653,2	MCF-7	breast:
5	chr2:100045232..100047151-chr2:100053855..100056471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11123773	0.84[EUR][1000 genomes]
rs12053237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382911	1.00[ASN][1000 genomes]
rs28382914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382936	1.00[ASN][1000 genomes]
rs28382959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382974	1.00[ASN][1000 genomes]
rs28382975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964149	1.00[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100005800-100062600	Strong transcription	Dnd41	blood
4	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:100009800-100050000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:100020600-100051400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:100020800-100050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:100021000-100051800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:100021200-100050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:100021400-100049200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:100021400-100050800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:100022000-100047600	Weak transcription	Stomach Mucosa	stomach
22	chr2:100022000-100050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:100022000-100054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:100022200-100059000	Strong transcription	Liver	Liver
25	chr2:100024000-100046600	Strong transcription	Fetal Intestine Large	intestine
26	chr2:100024000-100050000	Strong transcription	HepG2	liver
27	chr2:100024400-100048400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:100024400-100051400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:100025800-100049000	Strong transcription	Fetal Thymus	thymus
30	chr2:100026000-100048800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:100030800-100047400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
33	chr2:100034000-100055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:100034200-100055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
36	chr2:100035600-100045600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:100035800-100045600	Strong transcription	K562	blood
38	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:100037400-100049400	Strong transcription	Placenta	Placenta
40	chr2:100038200-100046200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:100038200-100055200	Weak transcription	Gastric	stomach
42	chr2:100038200-100063200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
44	chr2:100039400-100049800	Strong transcription	Adipose Nuclei	Adipose
45	chr2:100040000-100047000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:100040000-100047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:100040000-100047600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:100040000-100055200	Weak transcription	Colonic Mucosa	Colon
49	chr2:100041000-100055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:100041000-100056600	Weak transcription	Fetal Brain Male	brain

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