Variant report

Variant	rs13009258
Chromosome Location	chr2:10105828-10105829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10104880..10106485-chr2:10107006..10109152,2	MCF-7	breast:
2	chr2:10104034..10107226-chr2:10183225..10185834,3	K562	blood:
3	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
4	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
5	chr2:10105826..10108731-chr2:10110445..10113153,2	K562	blood:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73163635	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10094800-10110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
9	chr2:10099000-10110000	Strong transcription	Placenta	Placenta
10	chr2:10099000-10115400	Strong transcription	Liver	Liver
11	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:10101000-10117000	Strong transcription	HepG2	liver
13	chr2:10101200-10106800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:10101400-10110400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:10101400-10110400	Weak transcription	Fetal Stomach	stomach
16	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:10101600-10110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:10102200-10110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:10104000-10106000	Strong transcription	Dnd41	blood
26	chr2:10104000-10106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:10104000-10106800	Strong transcription	Esophagus	oesophagus
28	chr2:10104000-10107000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:10104400-10106000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:10104400-10106200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:10104800-10106200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:10104800-10107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:10104800-10110600	Weak transcription	Psoas Muscle	Psoas
35	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:10104800-10112600	Weak transcription	Gastric	stomach
37	chr2:10105000-10106000	Enhancers	Primary T cells from cord blood	blood
38	chr2:10105000-10106200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:10105000-10108800	Weak transcription	Lung	lung
40	chr2:10105200-10106600	Enhancers	GM12878-XiMat	blood
41	chr2:10105400-10106000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:10105400-10106200	Strong transcription	Fetal Brain Female	brain
43	chr2:10105400-10107600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:10105600-10106000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:10105600-10106000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:10105600-10106000	Strong transcription	Pancreas	Pancrea
47	chr2:10105600-10106800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:10105600-10111000	Weak transcription	Fetal Kidney	kidney
49	chr2:10105800-10106800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:10105800-10106800	Weak transcription	Fetal Thymus	thymus

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