Variant report

Variant	rs10023419
Chromosome Location	chr4:148654796-148654797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148635046..148637676-chr4:148653259..148655133,3	MCF-7	breast:
2	chr4:148604146..148606319-chr4:148653859..148655538,2	K562	blood:
3	chr4:148640121..148643037-chr4:148653637..148655326,2	MCF-7	breast:
4	chr4:148534491..148537230-chr4:148653257..148655916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	1.00[AMR][1000 genomes]
rs10034181	1.00[AMR][1000 genomes]
rs11931510	1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	1.00[AMR][1000 genomes]
rs28579791	1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.83[AMR][1000 genomes]
rs58012022	0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	1.00[AMR][1000 genomes]
rs59938265	0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.83[AMR][1000 genomes]
rs72947833	0.83[AMR][1000 genomes]
rs72947849	0.83[AMR][1000 genomes]
rs72947870	0.83[AMR][1000 genomes]
rs72947876	0.83[AMR][1000 genomes]
rs72947892	0.83[AMR][1000 genomes]
rs72949789	0.83[AMR][1000 genomes]
rs72949795	0.83[AMR][1000 genomes]
rs72949796	0.83[AMR][1000 genomes]
rs72949798	1.00[AMR][1000 genomes]
rs72951406	1.00[AMR][1000 genomes]
rs72951412	1.00[AMR][1000 genomes]
rs72951422	1.00[AMR][1000 genomes]
rs72951423	1.00[AMR][1000 genomes]
rs72953473	1.00[AMR][1000 genomes]
rs72953477	1.00[AMR][1000 genomes]
rs72953481	1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	1.00[AMR][1000 genomes]
rs72955506	1.00[AMR][1000 genomes]
rs9996365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9997304	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10023419	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148651600-148655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr4:148651600-148656200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:148652000-148655000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:148652200-148655200	Active TSS	Fetal Kidney	kidney
5	chr4:148652200-148655400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:148652200-148655800	Active TSS	HSMM	muscle
7	chr4:148652200-148656400	Active TSS	Stomach Smooth Muscle	stomach
8	chr4:148652400-148655000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:148652400-148655000	Active TSS	Ovary	ovary
10	chr4:148652400-148655000	Active TSS	Right Atrium	heart
11	chr4:148652400-148655200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:148652400-148655200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:148652400-148655400	Active TSS	HSMMtube	muscle
14	chr4:148652400-148655400	Active TSS	NHLF	lung
15	chr4:148652400-148655600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:148652400-148655600	Active TSS	NHDF-Ad	bronchial
17	chr4:148652400-148656000	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:148652400-148657400	Active TSS	Right Ventricle	heart
19	chr4:148652400-148657800	Active TSS	Aorta	Aorta
20	chr4:148652600-148655200	Active TSS	Gastric	stomach
21	chr4:148652600-148655800	Active TSS	Lung	lung
22	chr4:148652600-148656000	Active TSS	Left Ventricle	heart
23	chr4:148652800-148655200	Active TSS	GM12878-XiMat	blood
24	chr4:148652800-148656000	Active TSS	Colon Smooth Muscle	Colon
25	chr4:148653000-148655600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:148653600-148654800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:148653600-148655400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:148653800-148654800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr4:148653800-148654800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr4:148653800-148654800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:148654000-148654800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr4:148654000-148654800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr4:148654000-148654800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr4:148654000-148655000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:148654000-148655000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr4:148654000-148655000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr4:148654000-148655000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr4:148654000-148655000	Flanking Active TSS	Placenta	Placenta
39	chr4:148654000-148655400	Flanking Active TSS	NH-A	brain
40	chr4:148654000-148655600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr4:148654000-148656000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148654000-148656000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148654000-148656000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr4:148654000-148656000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:148654200-148654800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr4:148654200-148654800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:148654200-148654800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr4:148654200-148654800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr4:148654200-148654800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:148654200-148654800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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