Variant report

Variant	rs568523497
Chromosome Location	chr2:100073990-100073991
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100072001..100074970-chr2:100080545..100083472,2	MCF-7	breast:
2	chr2:100072254..100074226-chr2:100106055..100108821,2	MCF-7	breast:
3	chr2:100065327..100067396-chr2:100072129..100074926,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

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	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	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1792220	chr2:100063440-100077327	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
4	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
5	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
9	chr2:100053800-100075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:100055400-100083200	Weak transcription	Right Ventricle	heart
11	chr2:100055600-100078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:100055600-100079800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:100055800-100076200	Weak transcription	Aorta	Aorta
14	chr2:100055800-100076400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:100055800-100089000	Weak transcription	Pancreas	Pancrea
16	chr2:100055800-100092600	Weak transcription	Gastric	stomach
17	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:100057200-100076000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:100057400-100077800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:100057400-100078000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:100058200-100077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:100060400-100079200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:100061800-100079200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:100061800-100079400	Strong transcription	Liver	Liver
25	chr2:100062200-100074400	Strong transcription	Fetal Thymus	thymus
26	chr2:100062200-100079000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:100062200-100080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100062200-100080600	Strong transcription	HepG2	liver
29	chr2:100062400-100079200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:100062600-100079200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:100063400-100074200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:100063400-100074600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:100063400-100078400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:100063400-100078800	Strong transcription	Adipose Nuclei	Adipose
35	chr2:100063400-100079200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:100063800-100078400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:100063800-100078400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:100064000-100074800	Strong transcription	Placenta	Placenta
39	chr2:100064000-100078800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:100065400-100076000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:100065400-100078600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:100065400-100087400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:100065600-100075800	Weak transcription	Colonic Mucosa	Colon
44	chr2:100065600-100077200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:100065600-100077600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:100065800-100075600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:100065800-100076000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:100067200-100079200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:100067400-100081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:100067600-100079200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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