Variant report

Variant	rs551451718
Chromosome Location	chr2:10540524-10540525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10539665..10541710-chr2:10544795..10547261,2	MCF-7	breast:
2	chr2:10537541..10541103-chr2:10547321..10550436,3	MCF-7	breast:
3	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:
4	chr2:10539200..10541759-chr2:10543040..10545009,3	K562	blood:
5	chr2:10409644..10411196-chr2:10538400..10540753,2	MCF-7	breast:
6	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv3439050	chr2:10539751-10542249	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10523000-10541000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:10530000-10540800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:10530400-10540800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:10531000-10540600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:10531000-10544600	Weak transcription	NHLF	lung
9	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
10	chr2:10531200-10542400	Weak transcription	NH-A	brain
11	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:10531400-10541600	Weak transcription	Osteobl	bone
13	chr2:10533000-10551800	Weak transcription	Ovary	ovary
14	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
17	chr2:10534000-10540600	Weak transcription	Esophagus	oesophagus
18	chr2:10534000-10540800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:10534000-10541000	Strong transcription	Fetal Intestine Small	intestine
20	chr2:10534000-10545400	Weak transcription	Fetal Lung	lung
21	chr2:10536000-10541400	Genic enhancers	Spleen	Spleen
22	chr2:10536200-10541600	Strong transcription	Fetal Stomach	stomach
23	chr2:10536600-10540600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:10537000-10540600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10537000-10540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:10537000-10543000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:10537000-10543400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:10537400-10541200	Enhancers	Adipose Nuclei	Adipose
29	chr2:10537400-10542600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:10537400-10542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:10537400-10542800	Enhancers	Left Ventricle	heart
32	chr2:10537600-10542600	Genic enhancers	Lung	lung
33	chr2:10537800-10540600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:10538000-10540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10538200-10541800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:10538200-10542800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:10538200-10544400	Weak transcription	Psoas Muscle	Psoas
38	chr2:10538800-10540600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:10538800-10541400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:10539000-10540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:10539000-10540600	Strong transcription	A549	lung
42	chr2:10539000-10542000	Strong transcription	Thymus	Thymus
43	chr2:10539200-10540600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:10539200-10540600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:10539200-10541200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:10539400-10541000	Strong transcription	NHEK	skin
47	chr2:10539400-10541200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:10539400-10544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:10539600-10542000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr2:10539600-10542800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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