Variant report

Variant	rs9948634
Chromosome Location	chr18:43526047-43526048
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43521496..43524399-chr18:43525900..43528243,2	MCF-7	breast:
2	chr18:43524994..43527473-chr18:43527647..43529739,3	K562	blood:
3	chr18:43525078..43527473-chr18:43527531..43529739,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10432160	0.89[CEU][hapmap];0.87[AMR][1000 genomes]
rs10432197	0.89[CEU][hapmap];0.87[AMR][1000 genomes]
rs1075906	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1111937	0.81[CHB][hapmap]
rs3745000	0.90[AMR][1000 genomes]
rs4629066	0.88[AMR][1000 genomes]
rs475452	0.89[AMR][1000 genomes]
rs481755	0.89[AMR][1000 genomes]
rs630625	0.89[AMR][1000 genomes]
rs7226881	0.88[AMR][1000 genomes]
rs7230104	0.90[AMR][1000 genomes]
rs7231179	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231317	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7238724	0.88[AMR][1000 genomes]
rs7242733	0.82[AMR][1000 genomes]
rs72918390	0.88[AMR][1000 genomes]
rs8088153	0.82[AMR][1000 genomes]
rs8093119	0.89[CEU][hapmap];0.89[AMR][1000 genomes]
rs8098175	0.90[AMR][1000 genomes]
rs9959763	0.89[AMR][1000 genomes]
rs9964220	0.90[AMR][1000 genomes]
rs9964347	0.89[AMR][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	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
4	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
5	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
8	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
10	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:43512200-43536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43512400-43535200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:43512400-43535600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:43512600-43531000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:43514200-43526800	Strong transcription	NHDF-Ad	bronchial
19	chr18:43514400-43529400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr18:43514400-43536200	Strong transcription	Fetal Thymus	thymus
21	chr18:43514400-43536400	Strong transcription	Dnd41	blood
22	chr18:43514400-43537000	Strong transcription	Primary B cells from cord blood	blood
23	chr18:43514600-43529200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:43514600-43536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:43516200-43528600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:43516200-43528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:43516200-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:43516200-43529800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr18:43516800-43530600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:43517600-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:43517600-43529600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:43517600-43533400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:43517600-43535200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr18:43517600-43535400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr18:43517600-43535600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:43517600-43536200	Strong transcription	Liver	Liver
37	chr18:43517800-43527000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:43517800-43527200	Strong transcription	Brain Anterior Caudate	brain
39	chr18:43517800-43529200	Strong transcription	Brain Germinal Matrix	brain
40	chr18:43517800-43529600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr18:43517800-43530800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:43517800-43533600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:43517800-43533600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:43517800-43536000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:43517800-43536000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:43517800-43536200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:43518000-43527200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:43518000-43528000	Strong transcription	Fetal Intestine Small	intestine
49	chr18:43518000-43528000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr18:43518000-43529200	Strong transcription	Fetal Brain Female	brain

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