Variant report

Variant	rs12648052
Chromosome Location	chr4:120134776-120134777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:120132113-120135034	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:120132342-120134815	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr4:120134751-120135231	K562	blood:	n/a	n/a
4	CTCF	chr4:120134680-120134830	HCM	heart:	n/a	n/a
5	RCOR1	chr4:120132675-120135062	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120132453..120136158-chr4:120220202..120223113,6	K562	blood:
2	chr4:120133904..120136281-chr4:120160209..120162488,2	K562	blood:
3	chr4:120132319..120136069-chr4:120219720..120222326,6	MCF-7	breast:
4	chr4:119755459..119757778-chr4:120132797..120135484,2	K562	blood:
5	chr4:10118096..10120134-chr4:120132938..120134985,2	MCF-7	breast:
6	chr4:119929578..119931814-chr4:120134367..120136191,2	MCF-7	breast:
7	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:
8	chr17:1302981..1303704-chr4:120134534..120135101,2	Hela-S3	cervix:
9	chr4:120132950..120135145-chr4:120157017..120160702,4	MCF-7	breast:
10	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
11	chr1:109939637..109942305-chr4:120134026..120136766,2	MCF-7	breast:
12	chr4:120133997..120134914-chr5:271343..272094,2	Hela-S3	cervix:
13	chr4:119959493..119961509-chr4:120134410..120137217,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178636	TF binding region
ENSG00000249915	Chromatin interaction
ENSG00000071127	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000164096	Chromatin interaction
ENSG00000108953	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000150961	Chromatin interaction
ENSG00000134243	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10033031	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1134065	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11943184	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11946597	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643221	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35886000	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4621411	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833611	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56090560	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61015834	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62326359	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62328360	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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
rs12648052	FABP2	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120132000-120137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:120132200-120135400	Active TSS	Psoas Muscle	Psoas
3	chr4:120132200-120136400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:120132400-120135200	Active TSS	Left Ventricle	heart
5	chr4:120132400-120135800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:120132400-120136200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:120132400-120136200	Active TSS	NH-A	brain
8	chr4:120132400-120136400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:120132400-120136400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:120132400-120136400	Active TSS	Stomach Smooth Muscle	stomach
11	chr4:120132400-120137000	Active TSS	Right Ventricle	heart
12	chr4:120132600-120134800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:120132600-120134800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:120132600-120135000	Active TSS	Liver	Liver
15	chr4:120132600-120135000	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:120132600-120135200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr4:120132600-120135200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:120132600-120135400	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:120132600-120135600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr4:120132600-120135600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:120132600-120135600	Active TSS	Brain Anterior Caudate	brain
22	chr4:120132600-120135600	Active TSS	Fetal Intestine Large	intestine
23	chr4:120132600-120135800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:120132600-120136000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:120132600-120136000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:120132600-120136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:120132600-120136000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr4:120132600-120136000	Active TSS	Osteobl	bone
29	chr4:120132600-120136200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:120132600-120136200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:120132600-120136200	Active TSS	HMEC	breast
32	chr4:120132600-120136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:120132600-120136600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:120132600-120136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:120132600-120136800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:120132600-120136800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:120132600-120136800	Active TSS	NHEK	skin
38	chr4:120132600-120137000	Active TSS	NHDF-Ad	bronchial
39	chr4:120132600-120137200	Active TSS	NHLF	lung
40	chr4:120132600-120137400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:120132600-120138200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:120132800-120134800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr4:120132800-120134800	Active TSS	Colon Smooth Muscle	Colon
44	chr4:120132800-120135000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:120132800-120135000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:120132800-120135200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:120132800-120135200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:120132800-120135200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr4:120132800-120135200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:120132800-120135200	Active TSS	Brain Cingulate Gyrus	brain

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