Variant report

Variant	rs56139747
Chromosome Location	chr2:47280432-47280433
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47279825..47282668-chr2:47398550..47402456,3	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10495942	0.91[AMR][1000 genomes]
rs11884118	0.91[AMR][1000 genomes]
rs11901122	0.91[AMR][1000 genomes]
rs17541155	0.91[AMR][1000 genomes]
rs17541307	0.91[AMR][1000 genomes]
rs55654462	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:47246000-47283800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:47246800-47281600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:47252000-47283400	Strong transcription	Thymus	Thymus
6	chr2:47258400-47282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:47262000-47283400	Weak transcription	Fetal Brain Male	brain
9	chr2:47262000-47283600	Weak transcription	Small Intestine	intestine
10	chr2:47263000-47283200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:47263400-47283200	Weak transcription	Fetal Kidney	kidney
12	chr2:47266200-47280800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:47266400-47283000	Strong transcription	Primary T cells from cord blood	blood
14	chr2:47266600-47282600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:47266800-47282800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:47267200-47281400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:47267200-47282800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:47267400-47282600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:47268600-47282000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:47270000-47282800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:47270000-47282800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:47270400-47282200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:47270400-47282400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:47270400-47282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:47271200-47283000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:47271200-47283000	Strong transcription	Fetal Thymus	thymus
28	chr2:47271200-47283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:47271400-47282400	Strong transcription	Fetal Stomach	stomach
30	chr2:47271400-47283000	Strong transcription	Fetal Intestine Small	intestine
31	chr2:47271400-47283200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:47271400-47283200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:47271600-47282000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:47271600-47282600	Strong transcription	Primary B cells from cord blood	blood
35	chr2:47271600-47282600	Strong transcription	Esophagus	oesophagus
36	chr2:47271600-47283200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr2:47271800-47282600	Strong transcription	A549	lung
38	chr2:47271800-47282800	Weak transcription	NH-A	brain
39	chr2:47271800-47283000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:47272000-47282000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:47272200-47282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:47272200-47292000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:47272600-47282600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:47272600-47282600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:47272600-47282600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:47273000-47283600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:47273400-47280600	Strong transcription	Pancreas	Pancrea
48	chr2:47273600-47281200	Strong transcription	Spleen	Spleen
49	chr2:47273600-47283400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:47273800-47283200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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