Variant report

Variant	rs4711552
Chromosome Location	chr6:38567908-38567909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38567307..38570367-chr6:38570470..38574374,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10947753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141854	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4631264	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711553	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711555	0.83[EUR][1000 genomes]
rs4714171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58362455	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58648636	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6905545	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7750482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7750997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752972	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7753374	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7767791	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7775968	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296254	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296255	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9349092	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9349093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349094	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366965	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9366969	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369065	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9369069	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380762	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380763	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394513	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394514	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394515	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462439	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462441	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462442	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462446	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470901	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38523000-38571600	Weak transcription	HSMMtube	muscle
2	chr6:38535800-38578200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:38540400-38569200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:38541400-38568600	Weak transcription	Spleen	Spleen
5	chr6:38548200-38570800	Weak transcription	Fetal Kidney	kidney
6	chr6:38549000-38570800	Weak transcription	Fetal Intestine Small	intestine
7	chr6:38556000-38580400	Weak transcription	Ovary	ovary
8	chr6:38557400-38571800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:38557400-38571800	Weak transcription	NHDF-Ad	bronchial
10	chr6:38557400-38578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:38557800-38571600	Weak transcription	HMEC	breast
12	chr6:38557800-38572000	Weak transcription	NHLF	lung
13	chr6:38560600-38568200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:38560600-38570800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:38560600-38570800	Weak transcription	Left Ventricle	heart
16	chr6:38560600-38570800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:38560600-38571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:38560600-38571800	Weak transcription	HSMM	muscle
19	chr6:38560600-38574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:38560800-38570800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:38560800-38571400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:38560800-38580000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:38560800-38580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:38561400-38577600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:38561400-38578000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:38561600-38571400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:38561800-38571600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:38561800-38571600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:38562000-38570600	Weak transcription	Fetal Lung	lung
30	chr6:38562000-38570800	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:38562000-38571800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:38562000-38574600	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:38562000-38578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:38562200-38570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:38562200-38571200	Weak transcription	Liver	Liver
36	chr6:38562200-38571600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:38562200-38575000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:38562200-38580000	Weak transcription	Aorta	Aorta
39	chr6:38562600-38570600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:38562800-38579800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:38564000-38580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:38565000-38574800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:38565400-38589200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:38565800-38569200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:38565800-38570400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:38565800-38583200	Weak transcription	Primary T cells from cord blood	blood
47	chr6:38565800-38583600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:38567000-38568200	Enhancers	Small Intestine	intestine
49	chr6:38567400-38568000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:38567600-38568200	Strong transcription	Primary B cells from cord blood	blood

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