Variant report

Variant	rs60553807
Chromosome Location	chr2:55217971-55217972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55216168..55220754-chr2:55221880..55224884,4	MCF-7	breast:
2	chr2:55215896..55218354-chr2:55222752..55225132,2	K562	blood:
3	chr2:55215664..55218100-chr2:55259563..55261709,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1012603	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10496034	0.90[EUR][1000 genomes]
rs10496040	0.86[EUR][1000 genomes]
rs17046514	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17046518	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17046583	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17046643	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17046658	0.86[EUR][1000 genomes]
rs2028728	0.88[EUR][1000 genomes]
rs2241958	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2255026	0.83[AFR][1000 genomes]
rs2304687	0.84[EUR][1000 genomes]
rs2580771	0.83[AFR][1000 genomes]
rs2588515	0.83[AFR][1000 genomes]
rs2588516	0.83[AFR][1000 genomes]
rs2588522	0.83[AFR][1000 genomes]
rs2919126	0.83[AFR][1000 genomes]
rs34378852	0.83[AFR][1000 genomes]
rs4233955	0.90[EUR][1000 genomes]
rs4671993	0.88[EUR][1000 genomes]
rs4671995	0.90[EUR][1000 genomes]
rs4671997	0.90[EUR][1000 genomes]
rs4672006	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672009	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4672011	0.85[EUR][1000 genomes]
rs57737203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60989687	0.83[EUR][1000 genomes]
rs6545464	0.83[AFR][1000 genomes]
rs6734314	0.83[AFR][1000 genomes]
rs6739210	0.83[AFR][1000 genomes]
rs733916	0.85[EUR][1000 genomes]
rs73936818	0.88[EUR][1000 genomes]
rs73936829	0.86[EUR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:55196200-55226400	Weak transcription	Thymus	Thymus
3	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:55203800-55222600	Weak transcription	Spleen	Spleen
5	chr2:55203800-55223800	Weak transcription	Pancreas	Pancrea
6	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
7	chr2:55205200-55220600	Weak transcription	Small Intestine	intestine
8	chr2:55205200-55223800	Weak transcription	Left Ventricle	heart
9	chr2:55210000-55228200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:55211000-55218600	Weak transcription	Aorta	Aorta
11	chr2:55211200-55232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:55212200-55220600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:55212600-55220200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:55212600-55226400	Weak transcription	Fetal Stomach	stomach
15	chr2:55213800-55226400	Weak transcription	Ovary	ovary
16	chr2:55214000-55218600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:55214200-55224600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:55214200-55225000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:55214200-55234400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:55214400-55222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:55214400-55232800	Weak transcription	Fetal Brain Female	brain
22	chr2:55214600-55225600	Weak transcription	NH-A	brain
23	chr2:55214600-55226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:55214800-55218000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:55214800-55218600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:55214800-55218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:55214800-55218600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:55214800-55218600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:55214800-55218600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:55214800-55219000	Weak transcription	NHEK	skin
31	chr2:55214800-55219200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:55214800-55219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:55214800-55220600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:55214800-55221600	Weak transcription	HSMMtube	muscle
35	chr2:55214800-55221800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:55214800-55222000	Weak transcription	GM12878-XiMat	blood
37	chr2:55214800-55223600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:55214800-55223800	Weak transcription	Gastric	stomach
39	chr2:55214800-55224400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:55214800-55224400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:55214800-55224600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:55214800-55225000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:55214800-55225000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:55214800-55225200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:55214800-55225200	Weak transcription	Fetal Brain Male	brain
46	chr2:55214800-55225600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:55214800-55225600	Weak transcription	Brain Germinal Matrix	brain
48	chr2:55214800-55226000	Weak transcription	HUVEC	blood vessel
49	chr2:55214800-55226400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:55214800-55226400	Weak transcription	Fetal Thymus	thymus

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