Variant report

Variant	rs60619610
Chromosome Location	chr2:32217431-32217432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32209439..32211996-chr2:32217001..32218509,2	K562	blood:
2	chr2:32213989..32217878-chr2:32234251..32236773,3	MCF-7	breast:
3	chr2:32215851..32218933-chr2:32220153..32222066,3	K562	blood:
4	chr2:32217161..32219927-chr2:32227791..32231712,3	K562	blood:
5	chr2:32216819..32220438-chr2:32225835..32228266,3	MCF-7	breast:
6	chr2:32215312..32217702-chr2:32233258..32236144,2	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72859020	0.85[AFR][1000 genomes]
rs72860903	1.00[AFR][1000 genomes]
rs72862256	1.00[AFR][1000 genomes]
rs72862258	1.00[AFR][1000 genomes]
rs72862286	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
2	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:32191600-32234200	Weak transcription	Lung	lung
4	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:32203800-32223000	Weak transcription	Spleen	Spleen
6	chr2:32205600-32217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:32206000-32221200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:32206000-32223000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:32206400-32218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:32206400-32221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:32206400-32222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
13	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:32206600-32218000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:32206600-32218000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:32206600-32218600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
18	chr2:32206800-32218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:32206800-32222600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:32206800-32222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:32206800-32223600	Weak transcription	Primary B cells from cord blood	blood
22	chr2:32206800-32230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:32207000-32218400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:32207000-32222600	Weak transcription	K562	blood
25	chr2:32207000-32223000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:32207200-32218000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:32208000-32225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:32209600-32221800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:32209600-32223000	Weak transcription	Fetal Thymus	thymus
30	chr2:32209600-32225600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:32210000-32222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:32211000-32232800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:32212400-32224400	Weak transcription	Left Ventricle	heart
34	chr2:32213200-32221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:32213200-32222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:32213200-32222600	Weak transcription	HSMM	muscle
37	chr2:32213200-32222800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:32213200-32223000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:32213200-32232200	Weak transcription	NHDF-Ad	bronchial
40	chr2:32213400-32218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:32213400-32221000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:32213400-32222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:32213400-32227600	Weak transcription	NHEK	skin
44	chr2:32213400-32231200	Weak transcription	NHLF	lung
45	chr2:32213600-32218000	Weak transcription	Psoas Muscle	Psoas
46	chr2:32213800-32218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:32214600-32222600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:32215200-32218600	Weak transcription	GM12878-XiMat	blood
49	chr2:32216200-32218800	Enhancers	Liver	Liver
50	chr2:32216400-32227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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