Variant report

Variant	rs12528553
Chromosome Location	chr6:107117065-107117066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107106063..107107710-chr6:107116693..107119239,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10485221	0.83[AMR][1000 genomes]
rs10499046	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523769	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12524955	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12524961	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12525436	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12527773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12663120	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665651	0.95[AMR][1000 genomes]
rs17067217	0.91[EUR][1000 genomes]
rs17067219	0.91[EUR][1000 genomes]
rs17067226	1.00[EUR][1000 genomes]
rs17067245	0.95[EUR][1000 genomes]
rs17067371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067393	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067432	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067469	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17067614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17567332	0.83[AMR][1000 genomes]
rs1979347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2792467	0.91[EUR][1000 genomes]
rs28537731	0.80[AMR][1000 genomes]
rs2883074	0.92[AMR][1000 genomes]
rs3761800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804339	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4276539	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4363071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946766	1.00[EUR][1000 genomes]
rs4946777	0.83[AMR][1000 genomes]
rs56664576	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56725742	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56845422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58482231	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59480706	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59668897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9372139	0.97[AMR][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	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
2	chr6:107105000-107118000	Weak transcription	Esophagus	oesophagus
3	chr6:107105000-107118000	Weak transcription	Gastric	stomach
4	chr6:107106600-107126200	Weak transcription	Psoas Muscle	Psoas
5	chr6:107107000-107118000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:107108000-107117400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:107108400-107118000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:107109400-107119200	Weak transcription	Lung	lung
9	chr6:107110000-107118800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:107111600-107118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:107111800-107122200	Weak transcription	A549	lung
12	chr6:107112000-107118000	Weak transcription	Right Ventricle	heart
13	chr6:107112000-107118200	Weak transcription	HSMMtube	muscle
14	chr6:107112000-107119800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:107112000-107121800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:107112800-107124200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:107113800-107117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:107113800-107118000	Weak transcription	HSMM	muscle
19	chr6:107113800-107118200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:107113800-107122200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:107114000-107125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:107114200-107118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:107114800-107117800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:107114800-107118000	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:107114800-107120200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:107115000-107119400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:107115200-107119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:107115200-107119600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:107115200-107119600	Weak transcription	Left Ventricle	heart
30	chr6:107115200-107119800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:107115200-107120000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:107115200-107120400	Weak transcription	Fetal Lung	lung
33	chr6:107115400-107118600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:107115400-107119600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:107115400-107120000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:107115400-107120200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:107115400-107123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:107115600-107117200	Weak transcription	Fetal Thymus	thymus
39	chr6:107115600-107118000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:107115600-107120800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:107115800-107117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:107116400-107119600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:107116600-107124200	Weak transcription	Primary T cells from cord blood	blood
44	chr6:107116800-107124800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:107116800-107125000	Weak transcription	Primary B cells from cord blood	blood
46	chr6:107117000-107117600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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