Variant report

Variant	rs9370823
Chromosome Location	chr6:15550658-15550659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15545587..15549018-chr6:15549225..15553433,4	K562	blood:
2	chr6:15540041..15541969-chr6:15549123..15551420,2	K562	blood:
3	chr6:15548804..15551756-chr6:15553738..15555396,2	K562	blood:

Variant related genes	Relation type
ENSG00000047579	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs742106	0.84[CEU][hapmap]
rs9296982	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9383064	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9396590	0.91[MEX][hapmap]
rs9396591	0.91[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428473	chr6:15522653-15595739	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9370823	DTNBP1	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15525000-15553400	Weak transcription	Ovary	ovary
2	chr6:15533600-15551000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:15534000-15551600	Weak transcription	Aorta	Aorta
4	chr6:15534400-15551000	Weak transcription	K562	blood
5	chr6:15534400-15609800	Weak transcription	Thymus	Thymus
6	chr6:15537000-15551000	Weak transcription	Left Ventricle	heart
7	chr6:15537000-15551600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:15537000-15551800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:15537000-15554400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:15539800-15554000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:15540000-15550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:15540000-15551800	Weak transcription	Gastric	stomach
13	chr6:15540200-15551000	Weak transcription	Pancreas	Pancrea
14	chr6:15544200-15551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:15544800-15551600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:15545000-15550800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:15545000-15550800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:15545000-15554200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:15545200-15550800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:15545400-15551400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:15546200-15551000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:15546400-15551000	Weak transcription	Right Atrium	heart
23	chr6:15546600-15551600	Weak transcription	Lung	lung
24	chr6:15547000-15551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:15547400-15563200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:15547800-15551000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:15547800-15551200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:15547800-15551600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:15547800-15552000	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:15548000-15550800	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:15548000-15551000	Weak transcription	Brain Anterior Caudate	brain
32	chr6:15548000-15551000	Weak transcription	Spleen	Spleen
33	chr6:15548000-15551400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:15548000-15551800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:15548000-15551800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:15548000-15553800	Weak transcription	NHLF	lung
37	chr6:15548200-15551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:15548200-15551400	Weak transcription	Fetal Kidney	kidney
39	chr6:15548200-15551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:15548800-15550800	Weak transcription	Fetal Stomach	stomach
41	chr6:15548800-15551000	Weak transcription	Fetal Lung	lung
42	chr6:15549000-15551000	Weak transcription	HUVEC	blood vessel
43	chr6:15549600-15553600	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:15549800-15551200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:15549800-15552000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:15549800-15552200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:15549800-15552400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:15549800-15552400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:15549800-15552600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:15549800-15554000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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