Variant report

Variant	rs1134065
Chromosome Location	chr4:120138824-120138825
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120138762..120140367-chr4:120140533..120142369,2	K562	blood:
2	chr4:119603174..119605394-chr4:120137644..120139212,2	K562	blood:
3	chr4:120136077..120139007-chr4:120191556..120193518,2	K562	blood:
4	chr4:120135683..120139128-chr4:120180501..120183210,3	K562	blood:
5	chr4:120132080..120136189-chr4:120136407..120141066,11	MCF-7	breast:
6	chr4:120136237..120140737-chr4:120147652..120152174,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP53-1	chr4:120138705-120142650	NONHSAT098036
2	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098039
3	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098037
4	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098038

No data

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10033031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11943184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643853	0.83[ASN][1000 genomes]
rs12648052	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35886000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4621411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4833611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56090560	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61015834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328360	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328375	0.82[ASN][1000 genomes]
rs6534132	0.83[ASN][1000 genomes]
rs7654590	0.82[ASN][1000 genomes]
rs7668372	0.83[ASN][1000 genomes]
rs7668423	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1134065	FABP2	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134600-120144600	Weak transcription	Spleen	Spleen
2	chr4:120134800-120142000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:120134800-120143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:120134800-120147000	Weak transcription	Fetal Brain Male	brain
5	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:120135000-120142600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:120135000-120142800	Weak transcription	Lung	lung
8	chr4:120135000-120154800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:120135200-120139000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:120135200-120139000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:120135200-120139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:120135200-120140400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:120135200-120140400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:120135200-120142000	Weak transcription	Esophagus	oesophagus
17	chr4:120135200-120142000	Weak transcription	Ovary	ovary
18	chr4:120135200-120143200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:120135200-120143600	Weak transcription	Thymus	Thymus
20	chr4:120135200-120155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:120135200-120155000	Weak transcription	Small Intestine	intestine
22	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:120135400-120142400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:120135400-120159000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:120135600-120141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:120135600-120142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:120135600-120142800	Weak transcription	Fetal Stomach	stomach
31	chr4:120135600-120155000	Weak transcription	K562	blood
32	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
33	chr4:120135800-120139000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:120135800-120140000	Weak transcription	Fetal Lung	lung
35	chr4:120136000-120145600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:120136200-120139000	Weak transcription	Primary T cells from cord blood	blood
37	chr4:120136200-120139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:120136200-120139000	Weak transcription	Fetal Kidney	kidney
39	chr4:120136200-120143000	Weak transcription	NH-A	brain
40	chr4:120136200-120147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:120136200-120148000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:120136200-120154400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
44	chr4:120136400-120139000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:120136400-120139400	Weak transcription	HSMM	muscle
46	chr4:120136400-120139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:120136400-120140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:120136400-120151600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:120136400-120155000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:120136400-120155000	Weak transcription	Stomach Mucosa	stomach

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