Variant report

Variant	rs541403203
Chromosome Location	chr2:100105185-100105186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
2	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
3	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
4	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
5	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
6	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
7	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:
8	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
9	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
10	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
11	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
12	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158411	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000170500	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3457028	chr2:100101720-100107018	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3487602	chr2:100102570-100106918	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv2555492	chr2:100102701-100105388	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	esv3457027	chr2:100103045-100105893	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3457029	chr2:100103118-100105501	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3457031	chr2:100103350-100105315	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv821279	chr2:100103534-100105532	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv829580	chr2:100103534-100105532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv2052109	chr2:100103541-100105185	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	esv17174	chr2:100103724-100105212	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv1005386	chr2:100103724-100105472	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv1843390	chr2:100103740-100106224	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
17	esv1809009	chr2:100103752-100109251	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv582524	chr2:100103752-100110353	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv3354592	chr2:100104020-100108718	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3446078	chr2:100104120-100107168	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:100098600-100105200	Weak transcription	Gastric	stomach
3	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:100103600-100107400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:100103800-100105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:100103800-100105200	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:100103800-100105200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:100103800-100105200	Weak transcription	Stomach Mucosa	stomach
9	chr2:100103800-100107000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:100104200-100105200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:100104200-100105400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:100104200-100105400	Flanking Active TSS	Fetal Kidney	kidney
13	chr2:100104400-100105200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:100104400-100105200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:100104400-100105400	Flanking Active TSS	Fetal Lung	lung
16	chr2:100104400-100105400	Flanking Active TSS	Dnd41	blood
17	chr2:100104400-100105400	Flanking Active TSS	HUVEC	blood vessel
18	chr2:100104400-100107000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:100104600-100105400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:100104600-100105800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:100104600-100107000	Active TSS	GM12878-XiMat	blood
22	chr2:100104600-100107200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:100104600-100107400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:100104600-100107400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:100104800-100105200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:100104800-100105200	Flanking Active TSS	NHLF	lung
27	chr2:100104800-100105200	Flanking Active TSS	Osteobl	bone
28	chr2:100104800-100105400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:100104800-100105400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:100104800-100105400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:100104800-100105400	Flanking Active TSS	Liver	Liver
32	chr2:100104800-100105400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr2:100104800-100105400	Flanking Active TSS	Fetal Brain Male	brain
34	chr2:100104800-100105400	Flanking Active TSS	Fetal Brain Female	brain
35	chr2:100104800-100105400	Enhancers	Spleen	Spleen
36	chr2:100104800-100105400	Flanking Active TSS	Hela-S3	cervix
37	chr2:100104800-100105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:100104800-100105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:100104800-100105600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:100104800-100105600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:100104800-100105800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:100104800-100106200	Active TSS	Right Atrium	heart
43	chr2:100104800-100107000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:100104800-100107000	Active TSS	Fetal Thymus	thymus
45	chr2:100104800-100107000	Active TSS	HMEC	breast
46	chr2:100104800-100107000	Active TSS	NHEK	skin
47	chr2:100104800-100107400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:100104800-100107400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:100104800-100107400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:100104800-100107600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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