Variant report

Variant	rs60225993
Chromosome Location	chr6:147592300-147592301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147556538..147559509-chr6:147591738..147594515,2	K562	blood:
2	chr6:147583523..147585752-chr6:147591147..147593959,2	K562	blood:
3	chr6:147590566..147593187-chr6:147668783..147670491,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10080610	0.90[AFR][1000 genomes]
rs1034245	0.82[AFR][1000 genomes]
rs17076672	0.81[AFR][1000 genomes]
rs17076679	1.00[AFR][1000 genomes]
rs17076691	1.00[AFR][1000 genomes]
rs17076702	0.98[AFR][1000 genomes]
rs34181841	0.98[AFR][1000 genomes]
rs55691000	0.81[AFR][1000 genomes]
rs55758181	0.86[AFR][1000 genomes]
rs56837006	0.88[AFR][1000 genomes]
rs58570586	0.95[AFR][1000 genomes]
rs58756001	0.89[AFR][1000 genomes]
rs58831496	0.81[AFR][1000 genomes]
rs60412958	0.86[AFR][1000 genomes]
rs60969570	0.81[AFR][1000 genomes]
rs61078293	0.98[AFR][1000 genomes]
rs73787171	0.93[AFR][1000 genomes]
rs73787179	0.86[AFR][1000 genomes]
rs73788818	0.81[AFR][1000 genomes]
rs73788820	0.81[AFR][1000 genomes]
rs73788821	0.81[AFR][1000 genomes]
rs73788836	0.81[AFR][1000 genomes]
rs73788839	0.81[AFR][1000 genomes]
rs73788842	0.81[AFR][1000 genomes]
rs73788844	0.81[AFR][1000 genomes]
rs9322096	1.00[AFR][1000 genomes]
rs9322097	0.98[AFR][1000 genomes]
rs9322098	0.93[AFR][1000 genomes]
rs9485157	0.95[AFR][1000 genomes]
rs9485158	1.00[AFR][1000 genomes]
rs9485160	1.00[AFR][1000 genomes]
rs9485161	1.00[AFR][1000 genomes]
rs9485163	1.00[AFR][1000 genomes]
rs9485164	0.90[AFR][1000 genomes]
rs9485168	0.98[AFR][1000 genomes]
rs9485169	0.98[AFR][1000 genomes]
rs9497727	0.86[AFR][1000 genomes]
rs9497733	0.91[AFR][1000 genomes]
rs9497735	0.91[AFR][1000 genomes]
rs9497737	1.00[AFR][1000 genomes]
rs9497739	1.00[AFR][1000 genomes]
rs9497742	1.00[AFR][1000 genomes]
rs9497744	1.00[AFR][1000 genomes]
rs9497745	0.98[AFR][1000 genomes]
rs9497746	0.95[AFR][1000 genomes]
rs9497749	0.95[AFR][1000 genomes]
rs9497750	0.95[AFR][1000 genomes]
rs9497755	0.98[AFR][1000 genomes]
rs9497756	0.98[AFR][1000 genomes]
rs9497758	0.90[AFR][1000 genomes]
rs9497760	0.98[AFR][1000 genomes]
rs9885707	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	21 gene(s)	inside rSNPs	diseases
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv522406	chr6:147591022-147635413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
2	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:147561600-147600800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:147562600-147599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:147564400-147604600	Weak transcription	NHLF	lung
6	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
7	chr6:147564600-147608800	Weak transcription	NH-A	brain
8	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
9	chr6:147570600-147609000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:147571400-147599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:147571400-147599400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:147572600-147605800	Weak transcription	Brain Anterior Caudate	brain
13	chr6:147572600-147609600	Weak transcription	Thymus	Thymus
14	chr6:147572600-147610200	Weak transcription	Esophagus	oesophagus
15	chr6:147572800-147599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:147572800-147605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
18	chr6:147573000-147594200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:147573000-147599200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:147573000-147599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:147573000-147599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:147573000-147616600	Weak transcription	Ovary	ovary
23	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
24	chr6:147573200-147599200	Weak transcription	Fetal Lung	lung
25	chr6:147573200-147599800	Weak transcription	Left Ventricle	heart
26	chr6:147573200-147610000	Weak transcription	Fetal Stomach	stomach
27	chr6:147573200-147617000	Weak transcription	Spleen	Spleen
28	chr6:147573400-147609200	Weak transcription	Pancreas	Pancrea
29	chr6:147573800-147608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:147574200-147599600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:147574400-147616600	Weak transcription	Fetal Brain Female	brain
32	chr6:147576800-147609800	Weak transcription	HSMMtube	muscle
33	chr6:147578200-147616800	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:147579200-147610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:147579400-147609800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:147581200-147599400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:147584200-147595400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:147584200-147600800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
40	chr6:147584600-147594800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:147584800-147592400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr6:147584800-147606000	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:147585000-147603200	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:147585200-147593800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:147585800-147599800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:147585800-147617200	Weak transcription	Fetal Brain Male	brain
47	chr6:147586200-147595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:147586600-147594200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:147586800-147594200	Weak transcription	Fetal Intestine Small	intestine
50	chr6:147587000-147618000	Weak transcription	Psoas Muscle	Psoas

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