Variant report

Variant	rs12341319
Chromosome Location	chr9:26913071-26913072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:26912830..26914356-chr9:26927951..26929642,2	K562	blood:
2	chr9:26894472..26896322-chr9:26911881..26913610,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240306	Chromatin interaction

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

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

rs_ID	r²[population]
rs10283496	1.00[AFR][1000 genomes]
rs1048949	0.84[AFR][1000 genomes]
rs10967592	1.00[AFR][1000 genomes]
rs10967596	1.00[AFR][1000 genomes]
rs10967606	1.00[AFR][1000 genomes]
rs10967607	1.00[AFR][1000 genomes]
rs12336131	1.00[AFR][1000 genomes]
rs12336425	1.00[AFR][1000 genomes]
rs12337864	1.00[AFR][1000 genomes]
rs12338421	1.00[AFR][1000 genomes]
rs12341560	1.00[AFR][1000 genomes]
rs12343349	1.00[AFR][1000 genomes]
rs12343386	1.00[AFR][1000 genomes]
rs12345094	0.84[AFR][1000 genomes]
rs12346262	0.82[AFR][1000 genomes]
rs12348209	1.00[AFR][1000 genomes]
rs12348249	1.00[AFR][1000 genomes]
rs12351389	0.94[AFR][1000 genomes]

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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr9:26892800-26916200	Weak transcription	Small Intestine	intestine
2	chr9:26893000-26916000	Weak transcription	Left Ventricle	heart
3	chr9:26893000-26916000	Weak transcription	Pancreas	Pancrea
4	chr9:26893000-26916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:26893000-26922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:26893000-26924200	Weak transcription	Esophagus	oesophagus
7	chr9:26893200-26923200	Weak transcription	Right Ventricle	heart
8	chr9:26893400-26914800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:26893400-26916000	Weak transcription	Fetal Lung	lung
10	chr9:26893400-26916800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:26893400-26925000	Weak transcription	Stomach Mucosa	stomach
12	chr9:26893400-26936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:26893400-26936400	Weak transcription	Psoas Muscle	Psoas
14	chr9:26893600-26915400	Weak transcription	Fetal Brain Female	brain
15	chr9:26893600-26915600	Weak transcription	Fetal Kidney	kidney
16	chr9:26893600-26915800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:26893600-26916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:26893600-26916000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:26893600-26916000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:26896600-26915400	Weak transcription	Brain Angular Gyrus	brain
21	chr9:26896800-26915800	Weak transcription	Colonic Mucosa	Colon
22	chr9:26896800-26915800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:26898200-26924400	Weak transcription	Aorta	Aorta
24	chr9:26899200-26921200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:26899400-26914800	Weak transcription	HepG2	liver
26	chr9:26899400-26916200	Weak transcription	NHEK	skin
27	chr9:26900600-26916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:26900800-26930000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:26901000-26913600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:26901200-26935800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:26901600-26916000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:26901600-26920800	Weak transcription	Gastric	stomach
33	chr9:26902800-26936600	Weak transcription	Spleen	Spleen
34	chr9:26903000-26927800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:26903000-26929800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:26903000-26935200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr9:26903200-26928400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:26903200-26930000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:26903200-26932600	Strong transcription	Dnd41	blood
40	chr9:26903200-26935200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr9:26903800-26915400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:26903800-26927800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:26903800-26931600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:26904600-26935200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:26904800-26913600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:26904800-26916200	Weak transcription	Fetal Heart	heart
47	chr9:26905200-26913800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:26905400-26938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:26905600-26914200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr9:26905800-26914000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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