Variant report

Variant	rs9395016
Chromosome Location	chr6:44387590-44387591
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44382268..44386801-chr6:44387364..44390498,4	MCF-7	breast:
2	chr6:44387232..44389973-chr6:44398026..44400145,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10807300	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1293205	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1293208	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1296018	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13208709	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1952979	0.84[AMR][1000 genomes]
rs2273667	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297334	0.96[AFR][1000 genomes]
rs2894572	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34264814	0.81[AMR][1000 genomes]
rs475426	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs525043	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs526851	0.81[ASN][1000 genomes]
rs545455	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs548342	0.88[AMR][1000 genomes]
rs557470	0.86[AMR][1000 genomes]
rs559035	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs564988	0.81[AMR][1000 genomes]
rs67182313	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6923521	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6934058	0.91[AFR][1000 genomes]
rs864127	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9369488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381324	0.84[AFR][1000 genomes]
rs9395017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9462989	0.86[AMR][1000 genomes]
rs9472275	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:44374600-44388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:44378200-44387800	Weak transcription	Fetal Heart	heart
8	chr6:44384200-44397600	Weak transcription	Small Intestine	intestine
9	chr6:44384600-44396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:44385000-44389600	Weak transcription	Stomach Mucosa	stomach
11	chr6:44385000-44392800	Weak transcription	Right Ventricle	heart
12	chr6:44385000-44397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:44385200-44387800	Weak transcription	Lung	lung
14	chr6:44385200-44388200	Weak transcription	Psoas Muscle	Psoas
15	chr6:44385200-44403200	Weak transcription	Gastric	stomach
16	chr6:44385400-44390000	Weak transcription	Fetal Kidney	kidney
17	chr6:44385400-44392600	Weak transcription	Fetal Brain Male	brain
18	chr6:44385600-44388400	Weak transcription	A549	lung
19	chr6:44385600-44389600	Weak transcription	Brain Angular Gyrus	brain
20	chr6:44385600-44392200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:44386600-44395400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:44386800-44388800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:44386800-44394000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:44386800-44395600	Strong transcription	Hela-S3	cervix
26	chr6:44386800-44395800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:44386800-44397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44386800-44398800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:44386800-44402600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:44386800-44402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:44386800-44402800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:44386800-44404200	Strong transcription	Fetal Thymus	thymus
33	chr6:44386800-44405000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:44386800-44406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:44387000-44387600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44387000-44388000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:44387000-44388000	Strong transcription	HMEC	breast
39	chr6:44387000-44388400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:44387000-44388400	Strong transcription	Colonic Mucosa	Colon
41	chr6:44387000-44388600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr6:44387000-44388800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:44387000-44388800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:44387000-44388800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr6:44387000-44388800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:44387000-44389000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:44387000-44389000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:44387000-44389000	Strong transcription	Brain Substantia Nigra	brain
49	chr6:44387000-44389400	Strong transcription	Brain Anterior Caudate	brain
50	chr6:44387000-44389600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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