Variant report

Variant	rs10819945
Chromosome Location	chr9:104245504-104245505
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	chr9:104242678..104246485-chr9:104246674..104250284,6	K562	blood:

Variant related genes	Relation type
ENSG00000165152	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10989528	0.89[ASN][1000 genomes]
rs10989529	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1113384	0.82[JPT][hapmap]
rs12005425	0.82[JPT][hapmap]
rs12683273	0.82[JPT][hapmap]
rs12684621	0.81[JPT][hapmap]
rs12684773	0.82[JPT][hapmap]
rs1407868	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs16920420	0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs16920438	0.82[JPT][hapmap]
rs16920439	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs16920447	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs4097641	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4742815	0.87[ASN][1000 genomes]
rs57815349	0.84[ASN][1000 genomes]
rs7867496	0.82[JPT][hapmap]

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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104227800-104248200	Weak transcription	Liver	Liver
2	chr9:104229000-104248200	Weak transcription	NHLF	lung
3	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:104231000-104248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:104234400-104248200	Weak transcription	Fetal Kidney	kidney
6	chr9:104238800-104246400	Weak transcription	Fetal Brain Male	brain
7	chr9:104239000-104247800	Weak transcription	A549	lung
8	chr9:104239200-104247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:104239200-104247800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:104239200-104247800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:104239200-104247800	Weak transcription	Fetal Lung	lung
12	chr9:104239200-104247800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:104239200-104248000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:104239200-104248000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:104239200-104248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:104239200-104248200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:104239400-104247800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:104239400-104247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:104239400-104247800	Weak transcription	Fetal Stomach	stomach
20	chr9:104239400-104248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:104239400-104248000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:104239400-104248000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:104239400-104248000	Weak transcription	Brain Germinal Matrix	brain
24	chr9:104241000-104246800	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:104241000-104247800	Enhancers	Fetal Heart	heart
26	chr9:104241000-104248200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:104241200-104246400	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:104241200-104247800	Weak transcription	Fetal Brain Female	brain
29	chr9:104241800-104248200	Weak transcription	Aorta	Aorta
30	chr9:104242200-104247800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:104242200-104248200	Weak transcription	Gastric	stomach
32	chr9:104242200-104248200	Weak transcription	Psoas Muscle	Psoas
33	chr9:104242800-104246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:104242800-104247800	Weak transcription	Brain Anterior Caudate	brain
35	chr9:104243000-104247800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:104243000-104248200	Weak transcription	Brain Substantia Nigra	brain
37	chr9:104243200-104245800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:104243600-104245800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:104243800-104247800	Weak transcription	Right Atrium	heart
40	chr9:104243800-104248000	Weak transcription	Right Ventricle	heart
41	chr9:104243800-104248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:104243800-104248200	Weak transcription	Esophagus	oesophagus
43	chr9:104244000-104247800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:104244200-104247600	Weak transcription	K562	blood
45	chr9:104244200-104247800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:104244400-104246200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:104244400-104246400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:104244400-104246600	Weak transcription	Small Intestine	intestine
49	chr9:104244400-104247600	Weak transcription	Hela-S3	cervix
50	chr9:104244400-104247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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