Variant report

Variant	rs67565544
Chromosome Location	chr6:44410196-44410197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44405048..44409188-chr6:44409781..44413783,5	K562	blood:
2	chr6:44406091..44407637-chr6:44410068..44412209,2	K562	blood:
3	chr6:44408746..44410322-chr6:44420941..44423520,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1888671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2297334	0.85[EUR][1000 genomes]
rs4134405	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4143679	1.00[EUR][1000 genomes]
rs6934058	0.84[EUR][1000 genomes]
rs9349284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349286	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9357444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369481	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9381325	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9462987	0.82[EUR][1000 genomes]
rs9472275	1.00[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	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:44390200-44420200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:44391800-44412600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:44392800-44411800	Weak transcription	Esophagus	oesophagus
6	chr6:44393600-44411600	Weak transcription	Right Ventricle	heart
7	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
8	chr6:44398200-44413400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:44398200-44413400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:44398400-44411800	Weak transcription	Lung	lung
11	chr6:44398400-44413600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:44398400-44415400	Weak transcription	Small Intestine	intestine
13	chr6:44398600-44411600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44398600-44419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:44400600-44413200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:44401600-44412800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:44402000-44413400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:44402200-44413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:44402200-44414400	Weak transcription	NH-A	brain
20	chr6:44402400-44413200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:44402600-44411600	Weak transcription	Fetal Heart	heart
22	chr6:44402600-44412000	Weak transcription	Placenta	Placenta
23	chr6:44403600-44411800	Weak transcription	Gastric	stomach
24	chr6:44403600-44411800	Weak transcription	Psoas Muscle	Psoas
25	chr6:44403600-44412600	Weak transcription	Hela-S3	cervix
26	chr6:44403800-44411000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:44403800-44412000	Weak transcription	Pancreas	Pancrea
28	chr6:44406000-44410200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:44406200-44411800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:44406600-44410600	Strong transcription	Liver	Liver
31	chr6:44407000-44410200	Strong transcription	Ovary	ovary
32	chr6:44407400-44412200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:44407400-44414000	Weak transcription	HSMM	muscle
34	chr6:44407600-44411600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:44407600-44413600	Weak transcription	NHEK	skin
36	chr6:44407600-44413800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:44407600-44414000	Weak transcription	HMEC	breast
38	chr6:44407800-44411000	Weak transcription	NHDF-Ad	bronchial
39	chr6:44407800-44413800	Weak transcription	Osteobl	bone
40	chr6:44407800-44416200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:44407800-44419800	Weak transcription	HSMMtube	muscle
42	chr6:44408000-44410600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:44408000-44411000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:44408000-44411800	Weak transcription	NHLF	lung
45	chr6:44408000-44413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:44408200-44412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:44408400-44410200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr6:44408400-44411400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr6:44408400-44411400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:44408400-44411600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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