Variant report

Variant	rs553403470
Chromosome Location	chr2:100094820-100094821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
2	chr2:100082191..100084657-chr2:100091943..100094929,2	K562	blood:
3	chr2:100088451..100090156-chr2:100093150..100094831,2	MCF-7	breast:
4	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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	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
7	esv1811477	chr2:100089078-100105013	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1810220	chr2:100094799-100105013	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:100076600-100104200	Weak transcription	NHLF	lung
5	chr2:100078600-100096800	Weak transcription	NH-A	brain
6	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
7	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:100079200-100096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:100079200-100098400	Weak transcription	NHDF-Ad	bronchial
11	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
13	chr2:100080600-100098000	Weak transcription	Dnd41	blood
14	chr2:100080800-100103200	Weak transcription	HSMM	muscle
15	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:100086400-100102000	Weak transcription	Thymus	Thymus
18	chr2:100087800-100095000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:100087800-100098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:100088200-100098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:100089200-100099800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:100089400-100098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:100089400-100098400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:100089600-100102200	Weak transcription	Fetal Thymus	thymus
26	chr2:100090400-100098400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:100090600-100096800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:100090600-100097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:100090800-100101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:100091000-100095600	Enhancers	Liver	Liver
31	chr2:100091200-100095400	Enhancers	Ovary	ovary
32	chr2:100091200-100096600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:100091400-100098000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100091400-100098000	Weak transcription	Lung	lung
35	chr2:100091400-100098400	Weak transcription	Stomach Mucosa	stomach
36	chr2:100091400-100103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:100091800-100095400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:100091800-100103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:100092000-100095400	Enhancers	Left Ventricle	heart
40	chr2:100092200-100096600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:100092200-100096800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:100092200-100101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:100092400-100096600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:100092600-100096800	Weak transcription	Fetal Kidney	kidney
45	chr2:100092600-100098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:100092600-100100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:100092600-100103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:100092600-100104200	Weak transcription	Osteobl	bone
49	chr2:100092800-100096800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:100092800-100103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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