Variant report

Variant	rs10064488
Chromosome Location	chr5:94888014-94888015
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	chr5:94885448..94888187-chr5:94888844..94890737,5	K562	blood:
2	chr5:94885887..94888055-chr5:94890822..94893309,3	K562	blood:

Variant related genes	Relation type
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11951853	1.00[MEX][hapmap]
rs11953259	1.00[ASN][1000 genomes]
rs11958573	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17084856	1.00[ASN][1000 genomes]
rs17084871	1.00[ASN][1000 genomes]
rs17084925	1.00[MEX][hapmap]
rs57901676	0.88[AFR][1000 genomes]
rs6556873	1.00[MEX][hapmap]
rs73141949	1.00[ASN][1000 genomes]
rs73145988	1.00[ASN][1000 genomes]
rs73147912	1.00[ASN][1000 genomes]
rs73147928	1.00[ASN][1000 genomes]
rs73147942	1.00[ASN][1000 genomes]
rs7703196	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7708307	1.00[MEX][hapmap]
rs7719748	1.00[MEX][hapmap]

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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10064488	ABP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
2	chr5:94827200-94889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:94847400-94890000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:94849200-94890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:94853800-94890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:94864400-94889400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:94865200-94889400	Weak transcription	Esophagus	oesophagus
8	chr5:94865200-94890000	Weak transcription	Aorta	Aorta
9	chr5:94869400-94889000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:94870200-94889000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:94876200-94888800	Strong transcription	NHLF	lung
12	chr5:94877600-94889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:94878400-94889400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:94879600-94889600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:94881000-94889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:94881400-94889400	Weak transcription	Brain Substantia Nigra	brain
17	chr5:94881400-94889600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:94881600-94889200	Weak transcription	Fetal Brain Male	brain
19	chr5:94881600-94889600	Weak transcription	Thymus	Thymus
20	chr5:94881800-94888200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:94881800-94889400	Weak transcription	Colonic Mucosa	Colon
22	chr5:94881800-94889400	Weak transcription	Spleen	Spleen
23	chr5:94882000-94888200	Weak transcription	Brain Germinal Matrix	brain
24	chr5:94882200-94888600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:94882400-94889400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:94882400-94889400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:94882400-94889400	Weak transcription	Lung	lung
28	chr5:94882400-94889400	Weak transcription	Pancreas	Pancrea
29	chr5:94882400-94889400	Weak transcription	Right Ventricle	heart
30	chr5:94882400-94889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:94882400-94889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:94882400-94889600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:94882400-94889600	Weak transcription	Fetal Stomach	stomach
34	chr5:94883000-94889200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:94883000-94889400	Weak transcription	Gastric	stomach
36	chr5:94883000-94889400	Weak transcription	K562	blood
37	chr5:94883000-94889600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:94883000-94889600	Weak transcription	Left Ventricle	heart
39	chr5:94883000-94889600	Weak transcription	HSMMtube	muscle
40	chr5:94883000-94890000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:94883200-94888200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:94883200-94889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:94883200-94889600	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:94883200-94889600	Weak transcription	Ovary	ovary
45	chr5:94883400-94888600	Weak transcription	Hela-S3	cervix
46	chr5:94883600-94889400	Weak transcription	HUVEC	blood vessel
47	chr5:94883600-94889600	Weak transcription	A549	lung
48	chr5:94884200-94888200	Weak transcription	Fetal Brain Female	brain
49	chr5:94885000-94889400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:94885000-94889400	Weak transcription	NH-A	brain

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