Variant report

Variant	rs58727224
Chromosome Location	chr6:167028063-167028064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167019640..167022664-chr6:167027634..167030471,3	K562	blood:
2	chr6:167027136..167029744-chr6:167037956..167040696,2	K562	blood:
3	chr6:167027450..167030161-chr6:167032275..167034525,2	MCF-7	breast:
4	chr6:166999043..167001912-chr6:167027558..167029377,2	K562	blood:
5	chr6:166928192..166929030-chr6:167027760..167028686,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235272	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10946178	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12196315	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12199983	0.88[EUR][1000 genomes]
rs12203904	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204787	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778369	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778370	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778371	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778372	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778375	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799566	0.82[EUR][1000 genomes]
rs3799570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799571	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60145177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456097	0.85[EUR][1000 genomes]
rs6456098	0.85[EUR][1000 genomes]
rs6916042	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6929319	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72503823	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873070	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874153	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916389	0.85[EUR][1000 genomes]
rs9356498	0.84[EUR][1000 genomes]
rs9366034	0.84[EUR][1000 genomes]
rs9459701	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167013200-167031000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:167013400-167028800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:167013600-167028200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:167014200-167028400	Weak transcription	Stomach Mucosa	stomach
6	chr6:167015000-167028400	Weak transcription	Osteobl	bone
7	chr6:167016000-167028200	Weak transcription	Gastric	stomach
8	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
9	chr6:167016200-167028400	Weak transcription	NH-A	brain
10	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:167016800-167030200	Weak transcription	Brain Germinal Matrix	brain
12	chr6:167017200-167028600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:167017200-167032200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:167017400-167030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:167017600-167028400	Weak transcription	HSMM	muscle
16	chr6:167019800-167028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:167021200-167028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:167021200-167028400	Weak transcription	NHDF-Ad	bronchial
19	chr6:167021800-167028200	Weak transcription	HSMMtube	muscle
20	chr6:167022400-167028400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:167022400-167029000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:167022600-167028400	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:167022800-167028400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:167022800-167028800	Weak transcription	Brain Substantia Nigra	brain
25	chr6:167022800-167031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:167023400-167030400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:167023600-167033200	Weak transcription	Primary B cells from cord blood	blood
28	chr6:167023800-167031600	Weak transcription	Fetal Brain Female	brain
29	chr6:167024000-167028400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:167024000-167028400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:167024000-167032400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:167024000-167033600	Weak transcription	Fetal Brain Male	brain
33	chr6:167024200-167028200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:167024200-167029000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:167024200-167032800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:167024800-167030400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:167024800-167031800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:167025200-167028800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:167025200-167029600	Enhancers	Fetal Muscle Leg	muscle
40	chr6:167025200-167029800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:167025200-167030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:167025200-167030200	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:167025200-167030400	Enhancers	Right Atrium	heart
44	chr6:167025200-167030600	Enhancers	Left Ventricle	heart
45	chr6:167025400-167028200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:167025400-167028200	Weak transcription	HMEC	breast
47	chr6:167025400-167034800	Enhancers	Ovary	ovary
48	chr6:167025600-167031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:167025600-167034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:167025800-167028200	Enhancers	Fetal Heart	heart

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