Variant report

Variant	rs59473852
Chromosome Location	chr2:39044427-39044428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38976502..38979875-chr2:39041833..39045281,4	MCF-7	breast:
2	chr2:39036283..39037932-chr2:39043739..39045764,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1376461	1.00[ASN][1000 genomes]
rs3099967	0.84[ASN][1000 genomes]
rs3112138	1.00[ASN][1000 genomes]
rs3112158	0.92[ASN][1000 genomes]
rs3112160	0.92[ASN][1000 genomes]
rs3112213	0.84[ASN][1000 genomes]
rs6707855	0.84[ASN][1000 genomes]
rs6712917	1.00[ASN][1000 genomes]
rs6761115	1.00[ASN][1000 genomes]
rs7368897	1.00[ASN][1000 genomes]
rs921433	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39006400-39045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:39009200-39050000	Weak transcription	HMEC	breast
4	chr2:39009200-39052800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:39019000-39057800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:39022000-39066800	Weak transcription	Stomach Mucosa	stomach
7	chr2:39024000-39053000	Weak transcription	Psoas Muscle	Psoas
8	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
10	chr2:39032800-39072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:39033000-39053000	Weak transcription	Fetal Brain Male	brain
12	chr2:39033800-39050200	Weak transcription	K562	blood
13	chr2:39036000-39046800	Strong transcription	Fetal Stomach	stomach
14	chr2:39036000-39054000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:39036400-39051600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:39037000-39046000	Strong transcription	Fetal Intestine Small	intestine
17	chr2:39037000-39046800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:39037200-39055800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:39037400-39046000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:39037400-39046600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:39037400-39046600	Strong transcription	Fetal Brain Female	brain
22	chr2:39037400-39046800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:39037400-39047200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:39037400-39047800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:39037400-39047800	Strong transcription	Left Ventricle	heart
26	chr2:39037400-39052000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:39037400-39054000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:39037400-39054000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:39037400-39054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:39037600-39046200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:39037600-39046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:39037600-39046600	Strong transcription	Fetal Thymus	thymus
33	chr2:39037600-39046800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:39037600-39046800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:39037600-39047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:39037600-39048800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:39037800-39053800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:39038000-39044800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:39038200-39056000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:39038600-39046800	Strong transcription	Lung	lung
41	chr2:39038800-39045400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:39038800-39045400	Weak transcription	Spleen	Spleen
43	chr2:39038800-39045800	Weak transcription	NHLF	lung
44	chr2:39038800-39049800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:39038800-39102200	Weak transcription	Gastric	stomach
47	chr2:39039000-39044800	Weak transcription	Pancreas	Pancrea
48	chr2:39039000-39045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:39039000-39050000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:39039000-39050000	Weak transcription	NHDF-Ad	bronchial

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