Variant report

Variant	rs11572002
Chromosome Location	chr6:44389494-44389495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44389136..44391989-chr6:44402458..44405433,2	MCF-7	breast:
2	chr6:44382268..44386801-chr6:44387364..44390498,4	MCF-7	breast:
3	chr6:44389167..44391810-chr6:44391881..44393956,2	K562	blood:
4	chr6:44387232..44389973-chr6:44398026..44400145,2	K562	blood:

Variant related genes	Relation type
ENSG00000266619	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11571907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11571915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193699	1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1331293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	1.00[ASN][1000 genomes]
rs324136	1.00[ASN][1000 genomes]
rs325005	1.00[ASN][1000 genomes]
rs325006	1.00[ASN][1000 genomes]
rs325007	1.00[ASN][1000 genomes]
rs325008	1.00[ASN][1000 genomes]
rs325009	1.00[ASN][1000 genomes]
rs4308546	1.00[ASN][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	1.00[ASN][1000 genomes]
rs534416	1.00[ASN][1000 genomes]
rs567192	1.00[ASN][1000 genomes]
rs61462867	1.00[ASN][1000 genomes]
rs650075	1.00[ASN][1000 genomes]
rs6927345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740535	1.00[ASN][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472243	1.00[ASN][1000 genomes]
rs9472244	1.00[ASN][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	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv885858	chr6:44385441-44421240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1850024	chr6:44388505-44422689	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:44384200-44397600	Weak transcription	Small Intestine	intestine
6	chr6:44384600-44396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:44385000-44389600	Weak transcription	Stomach Mucosa	stomach
8	chr6:44385000-44392800	Weak transcription	Right Ventricle	heart
9	chr6:44385000-44397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:44385200-44403200	Weak transcription	Gastric	stomach
11	chr6:44385400-44390000	Weak transcription	Fetal Kidney	kidney
12	chr6:44385400-44392600	Weak transcription	Fetal Brain Male	brain
13	chr6:44385600-44389600	Weak transcription	Brain Angular Gyrus	brain
14	chr6:44385600-44392200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:44386600-44395400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:44386800-44394000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:44386800-44395600	Strong transcription	Hela-S3	cervix
19	chr6:44386800-44395800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:44386800-44397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:44386800-44398800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:44386800-44402600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:44386800-44402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:44386800-44402800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:44386800-44404200	Strong transcription	Fetal Thymus	thymus
26	chr6:44386800-44405000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:44386800-44406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr6:44387000-44389600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:44387000-44389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:44387000-44389600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:44387000-44389600	Strong transcription	Liver	Liver
33	chr6:44387000-44389600	Strong transcription	Fetal Brain Female	brain
34	chr6:44387000-44390200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr6:44387000-44390400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:44387000-44390400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:44387000-44391800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:44387000-44393200	Strong transcription	Thymus	Thymus
39	chr6:44387000-44393400	Strong transcription	Left Ventricle	heart
40	chr6:44387000-44393600	Strong transcription	NH-A	brain
41	chr6:44387000-44393800	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:44387000-44394000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:44387000-44394000	Strong transcription	HSMMtube	muscle
44	chr6:44387000-44394200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:44387000-44394600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:44387000-44394800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:44387000-44394800	Strong transcription	Brain Germinal Matrix	brain
48	chr6:44387000-44394800	Strong transcription	NHDF-Ad	bronchial
49	chr6:44387000-44395200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:44387000-44395200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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