Variant report

Variant	rs2263594
Chromosome Location	chr9:108354401-108354402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108351411..108353757-chr9:108354344..108356561,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1327353	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2518105	0.80[EUR][1000 genomes]
rs72730822	1.00[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	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321600-108360200	Weak transcription	HSMM	muscle
2	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:108325400-108357200	Weak transcription	A549	lung
4	chr9:108328000-108372800	Weak transcription	NHEK	skin
5	chr9:108330800-108366200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:108333200-108400400	Weak transcription	HMEC	breast
7	chr9:108334200-108368200	Weak transcription	Gastric	stomach
8	chr9:108335400-108403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:108336000-108366200	Weak transcription	NHDF-Ad	bronchial
10	chr9:108337800-108354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:108338400-108358000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:108338400-108366200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:108338400-108371600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:108338400-108403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:108340200-108372800	Weak transcription	Pancreas	Pancrea
16	chr9:108345600-108400000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:108347000-108399600	Weak transcription	Psoas Muscle	Psoas
18	chr9:108349400-108402200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:108349600-108355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:108350800-108354600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr9:108350800-108403800	Weak transcription	Fetal Heart	heart
22	chr9:108351000-108355400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:108351600-108355000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:108352000-108354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:108352200-108354600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr9:108352200-108354600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr9:108352400-108354600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr9:108352400-108354800	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr9:108352400-108355200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr9:108352600-108354600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr9:108352600-108355000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr9:108352600-108355200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr9:108352600-108382400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:108352800-108354600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr9:108352800-108354600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:108352800-108355000	ZNF genes & repeats	Fetal Brain Female	brain
37	chr9:108352800-108355200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr9:108352800-108355200	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr9:108353000-108354600	ZNF genes & repeats	Aorta	Aorta
40	chr9:108353000-108354600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr9:108353000-108354600	ZNF genes & repeats	Thymus	Thymus
42	chr9:108353000-108354800	ZNF genes & repeats	Fetal Stomach	stomach
43	chr9:108353000-108366000	Weak transcription	Osteobl	bone
44	chr9:108353200-108354600	ZNF genes & repeats	Fetal Lung	lung
45	chr9:108353200-108355000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr9:108353200-108355200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:108353400-108354600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
48	chr9:108353400-108355000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr9:108353400-108355200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:108353600-108355000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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