Variant report

Variant	rs4952245
Chromosome Location	chr2:32211970-32211971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32210987..32212578-chr2:32235779..32237731,2	K562	blood:
2	chr2:32202781..32206139-chr2:32208630..32212178,4	MCF-7	breast:
3	chr2:32205175..32207805-chr2:32210212..32212812,3	K562	blood:
4	chr2:32210208..32213123-chr2:32231743..32234482,2	K562	blood:
5	chr2:32209439..32211996-chr2:32217001..32218509,2	K562	blood:
6	chr2:32210903..32213445-chr2:32225242..32227555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12463396	0.84[EUR][1000 genomes]
rs12474659	0.82[CEU][hapmap]
rs4952242	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs55860812	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72796843	1.00[AFR][1000 genomes]
rs72796851	0.94[EUR][1000 genomes]
rs72796855	1.00[AFR][1000 genomes]
rs72796856	1.00[AFR][1000 genomes]
rs72796857	1.00[AFR][1000 genomes]
rs72796875	1.00[AFR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32212200	Weak transcription	Esophagus	oesophagus
2	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
3	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:32186600-32212200	Weak transcription	HMEC	breast
5	chr2:32187200-32212000	Weak transcription	Ovary	ovary
6	chr2:32191600-32234200	Weak transcription	Lung	lung
7	chr2:32193600-32212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:32193600-32212800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:32203800-32223000	Weak transcription	Spleen	Spleen
11	chr2:32205400-32212800	Weak transcription	NH-A	brain
12	chr2:32205600-32217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:32206000-32212200	Weak transcription	NHDF-Ad	bronchial
14	chr2:32206000-32221200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:32206000-32223000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:32206200-32212000	Weak transcription	Osteobl	bone
17	chr2:32206400-32212000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:32206400-32212000	Weak transcription	Right Atrium	heart
19	chr2:32206400-32212000	Weak transcription	HSMMtube	muscle
20	chr2:32206400-32214800	Weak transcription	Thymus	Thymus
21	chr2:32206400-32218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:32206400-32221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:32206400-32222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
25	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:32206600-32212000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:32206600-32212000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:32206600-32212000	Weak transcription	NHEK	skin
29	chr2:32206600-32212200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:32206600-32212600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:32206600-32212800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:32206600-32213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:32206600-32216800	Weak transcription	Hela-S3	cervix
34	chr2:32206600-32218000	Weak transcription	Primary T cells from cord blood	blood
35	chr2:32206600-32218000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:32206600-32218600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
38	chr2:32206800-32212400	Weak transcription	HUVEC	blood vessel
39	chr2:32206800-32214400	Weak transcription	Liver	Liver
40	chr2:32206800-32218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:32206800-32222600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:32206800-32222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:32206800-32223600	Weak transcription	Primary B cells from cord blood	blood
44	chr2:32206800-32230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:32207000-32212800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:32207000-32217400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:32207000-32218400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:32207000-32222600	Weak transcription	K562	blood
49	chr2:32207000-32223000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:32207200-32218000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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