Variant report

Variant	rs55824224
Chromosome Location	chr2:47208028-47208029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47204388..47206742-chr2:47207490..47210493,3	K562	blood:
2	chr2:47198362..47200774-chr2:47207735..47209827,2	K562	blood:
3	chr2:47205588..47209510-chr2:47401817..47405792,7	K562	blood:
4	chr2:47206562..47208636-chr2:47212925..47215220,2	K562	blood:
5	chr2:47205093..47209059-chr2:47402217..47405792,6	K562	blood:
6	chr2:47195860..47200774-chr2:47207735..47210386,4	K562	blood:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13399571	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036022	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036033	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17480869	0.86[ASN][1000 genomes]
rs17480988	0.86[ASN][1000 genomes]
rs17481037	0.86[ASN][1000 genomes]
rs17481209	0.86[ASN][1000 genomes]
rs17540157	0.86[ASN][1000 genomes]
rs17540219	0.86[ASN][1000 genomes]
rs17540462	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814035	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55641002	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55805005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58637066	0.86[ASN][1000 genomes]
rs58674434	0.86[ASN][1000 genomes]
rs59785154	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60732316	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726941	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727430	0.86[ASN][1000 genomes]
rs6727529	0.86[ASN][1000 genomes]
rs6751599	0.86[ASN][1000 genomes]
rs6751621	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754795	0.86[ASN][1000 genomes]
rs6755001	0.86[ASN][1000 genomes]
rs72806525	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806536	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806537	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806538	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806541	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806558	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806562	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806571	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564728	0.86[ASN][1000 genomes]
rs7576915	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	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
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:47196400-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:47196600-47227800	Strong transcription	Dnd41	blood
12	chr2:47198000-47209800	Weak transcription	Right Atrium	heart
13	chr2:47199200-47208600	Weak transcription	Small Intestine	intestine
14	chr2:47199400-47208400	Weak transcription	HUVEC	blood vessel
15	chr2:47199600-47209600	Strong transcription	Osteobl	bone
16	chr2:47199800-47208400	Strong transcription	Fetal Intestine Small	intestine
17	chr2:47199800-47209600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47200200-47210000	Weak transcription	Hela-S3	cervix
19	chr2:47200400-47208800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:47200800-47216400	Genic enhancers	Fetal Thymus	thymus
21	chr2:47201400-47209400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:47201600-47208600	Strong transcription	A549	lung
23	chr2:47201600-47210200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:47201600-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:47201600-47213200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:47201800-47208200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:47201800-47208200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:47201800-47208400	Strong transcription	Fetal Intestine Large	intestine
29	chr2:47201800-47211600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:47202000-47208400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:47202000-47208400	Weak transcription	Ovary	ovary
32	chr2:47202000-47209200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:47202000-47209400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:47202000-47209400	Strong transcription	NHLF	lung
35	chr2:47202000-47211400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:47202000-47214800	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:47202200-47208800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:47202200-47208800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:47202200-47209400	Strong transcription	NHDF-Ad	bronchial
40	chr2:47202200-47212600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:47202400-47208800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:47202600-47208800	Strong transcription	Esophagus	oesophagus
43	chr2:47203400-47208600	Strong transcription	Lung	lung
44	chr2:47203400-47210000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr2:47203600-47212800	Genic enhancers	Placenta	Placenta
46	chr2:47203800-47208200	Genic enhancers	Primary B cells from cord blood	blood
47	chr2:47203800-47210000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:47203800-47213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:47204000-47209600	Weak transcription	HMEC	breast
50	chr2:47204000-47209800	Genic enhancers	Primary hematopoietic stem cells	blood

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