Variant report

Variant	rs2805785
Chromosome Location	chr9:100357256-100357257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100357134..100359474-chr9:100365218..100367036,2	K562	blood:

Variant related genes	Relation type
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2149984	0.85[EUR][1000 genomes]
rs2245694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254733	0.86[EUR][1000 genomes]
rs2773343	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2773344	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2773349	0.90[EUR][1000 genomes]
rs2773350	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2773354	1.00[CEU][hapmap]
rs2773358	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805774	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2805783	0.87[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2805786	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2805787	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805788	0.94[EUR][1000 genomes]
rs2805792	0.90[EUR][1000 genomes]
rs2805793	0.95[EUR][1000 genomes]
rs2805831	1.00[CEU][hapmap]
rs932916	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100333600-100361800	Weak transcription	Gastric	stomach
2	chr9:100336200-100360000	Weak transcription	Brain Substantia Nigra	brain
3	chr9:100338400-100361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:100338600-100360800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:100341200-100358400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:100346200-100360800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:100348800-100384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:100350400-100361800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100350600-100360800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:100351200-100361800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:100353000-100362800	Weak transcription	Esophagus	oesophagus
12	chr9:100353200-100362200	Enhancers	Fetal Brain Male	brain
13	chr9:100353200-100363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:100353400-100359200	Strong transcription	K562	blood
15	chr9:100353600-100358600	Enhancers	Fetal Heart	heart
16	chr9:100354000-100360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:100354000-100360800	Weak transcription	Lung	lung
18	chr9:100354200-100360600	Weak transcription	GM12878-XiMat	blood
19	chr9:100354800-100357400	Enhancers	Fetal Muscle Leg	muscle
20	chr9:100354800-100363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:100355000-100360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:100355000-100360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:100355000-100360800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr9:100355400-100360800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:100355600-100357400	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:100355600-100357800	Enhancers	Colon Smooth Muscle	Colon
27	chr9:100355600-100359200	Weak transcription	Brain Germinal Matrix	brain
28	chr9:100356000-100357400	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:100356200-100357800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:100356400-100357400	Enhancers	HSMMtube	muscle
31	chr9:100356400-100358800	Enhancers	Fetal Brain Female	brain
32	chr9:100356600-100357400	Enhancers	Brain Angular Gyrus	brain
33	chr9:100356600-100357600	Enhancers	Brain Anterior Caudate	brain
34	chr9:100356600-100361400	Enhancers	Brain Hippocampus Middle	brain
35	chr9:100356800-100357400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:100356800-100362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:100357000-100358400	Weak transcription	Left Ventricle	heart
38	chr9:100357000-100358400	Weak transcription	Psoas Muscle	Psoas
39	chr9:100357000-100358400	Weak transcription	Right Atrium	heart
40	chr9:100357000-100358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr9:100357000-100359400	Weak transcription	Adipose Nuclei	Adipose
42	chr9:100357000-100360200	Weak transcription	Right Ventricle	heart
43	chr9:100357000-100362800	Weak transcription	HSMM	muscle
44	chr9:100357200-100357400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr9:100357200-100358000	Enhancers	Stomach Smooth Muscle	stomach
46	chr9:100357200-100358400	Weak transcription	Aorta	Aorta
47	chr9:100357200-100358400	Weak transcription	Ovary	ovary
48	chr9:100357200-100360800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:100357200-100360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:100357200-100363000	Weak transcription	Pancreas	Pancrea

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