Variant report

Variant	rs72808513
Chromosome Location	chr2:47267513-47267514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47266042..47270456-chr2:47271373..47275642,6	K562	blood:
2	chr2:47265110..47267582-chr2:47269199..47272729,4	MCF-7	breast:
3	chr2:47266621..47268333-chr2:47402251..47405072,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALM2-1	chr2:47267507-47267663	ENSG00000233845.1

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13430717	1.00[EUR][1000 genomes]
rs72806594	0.97[EUR][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	nsv984532	chr2:47237908-47270533	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv528091	chr2:47249239-47273732	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:47245800-47268600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:47246000-47283800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:47246800-47281600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:47252000-47283400	Strong transcription	Thymus	Thymus
8	chr2:47255600-47273400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:47257000-47277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:47257600-47267800	Genic enhancers	Fetal Muscle Leg	muscle
11	chr2:47258400-47268400	Genic enhancers	Fetal Thymus	thymus
12	chr2:47258400-47282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:47261800-47268600	Genic enhancers	NHLF	lung
15	chr2:47261800-47273600	Weak transcription	Fetal Brain Female	brain
16	chr2:47262000-47268000	Genic enhancers	HSMM	muscle
17	chr2:47262000-47283400	Weak transcription	Fetal Brain Male	brain
18	chr2:47262000-47283600	Weak transcription	Small Intestine	intestine
19	chr2:47262200-47267800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:47262400-47268000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:47262400-47269000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:47262600-47268200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:47262600-47268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:47262600-47269200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:47262800-47268400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:47262800-47269000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:47262800-47269200	Genic enhancers	A549	lung
28	chr2:47262800-47269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:47263000-47268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:47263000-47283200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:47263200-47268400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:47263200-47269000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:47263200-47269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:47263400-47267800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:47263400-47268400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:47263400-47270000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:47263400-47283200	Weak transcription	Fetal Kidney	kidney
38	chr2:47263600-47268200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:47263600-47268400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:47263800-47268000	Weak transcription	Fetal Heart	heart
41	chr2:47264000-47268600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:47264200-47268600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:47264400-47267600	Genic enhancers	HepG2	liver
44	chr2:47264600-47269000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:47264800-47268000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:47264800-47268600	Genic enhancers	Fetal Intestine Small	intestine
47	chr2:47265000-47273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:47265000-47273400	Weak transcription	K562	blood
49	chr2:47265200-47267800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:47265400-47268600	Genic enhancers	Primary monocytes fromperipheralblood	blood

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