Variant report

Variant	rs532568
Chromosome Location	chr13:30146312-30146313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30145040..30147217-chr13:30165008..30167643,2	K562	blood:
2	chr13:30145938..30148491-chr13:30169335..30172186,4	K562	blood:
3	chr13:30140340..30147664-chr13:30167192..30171255,11	MCF-7	breast:
4	chr13:30141734..30150637-chr13:30164575..30171336,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11839516	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166828	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1877463	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280922	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280923	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs280924	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280925	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280926	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280928	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs280930	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280931	0.89[ASN][1000 genomes]
rs280933	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280934	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs280936	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476506	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs485359	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs579451	0.83[ASN][1000 genomes]
rs617892	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7991883	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7997827	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs819386	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9551699	0.86[ASN][1000 genomes]
rs9551701	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30125000-30147400	Weak transcription	A549	lung
2	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
3	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
4	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
5	chr13:30127600-30156400	Weak transcription	Lung	lung
6	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
7	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
9	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr13:30128200-30147400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:30128200-30147400	Weak transcription	Thymus	Thymus
12	chr13:30128600-30146600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:30128600-30147400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
17	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
18	chr13:30131800-30147600	Weak transcription	GM12878-XiMat	blood
19	chr13:30136400-30146800	Weak transcription	NHLF	lung
20	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:30137400-30147400	Weak transcription	Brain Angular Gyrus	brain
22	chr13:30137800-30147000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:30138600-30147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:30138800-30146800	Weak transcription	Fetal Muscle Leg	muscle
26	chr13:30138800-30155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:30138800-30159800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:30139000-30147000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:30139600-30147400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:30139800-30147200	Weak transcription	Osteobl	bone
31	chr13:30140600-30149200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:30141200-30147600	Weak transcription	Small Intestine	intestine
33	chr13:30141600-30147000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr13:30142200-30146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:30142400-30147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:30142400-30147400	Weak transcription	Adipose Nuclei	Adipose
37	chr13:30142800-30147400	Weak transcription	K562	blood
38	chr13:30143200-30151200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:30143600-30147000	Strong transcription	Dnd41	blood
40	chr13:30143600-30148000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:30143600-30149400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:30143800-30147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:30143800-30147000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:30143800-30147200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr13:30143800-30147200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr13:30144000-30146800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:30144000-30147400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:30144200-30147600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr13:30144200-30151200	Weak transcription	Fetal Stomach	stomach
50	chr13:30144400-30146600	Weak transcription	Rectal Mucosa Donor 31	rectum

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