Variant report

Variant	rs4834762
Chromosome Location	chr4:120132690-120132691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:120132301-120134737	U87	brain:	n/a	n/a
2	POLR2A	chr4:120132113-120135034	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:120131791-120132931	K562	blood:	n/a	n/a
4	POLR2A	chr4:120132452-120133004	U87	brain:	n/a	n/a
5	POLR2A	chr4:120132465-120134654	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:120132342-120134815	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr4:120132573-120134611	K562	blood:	n/a	chr4:120134284-120134294
8	IRF1	chr4:120132501-120132701	K562	blood:	n/a	n/a
9	POLR2A	chr4:120132653-120134630	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr4:120132565-120134763	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr4:120132433-120133004	U87	brain:	n/a	n/a
12	POLR2A	chr4:120132327-120134731	U87	brain:	n/a	n/a
13	POLR2A	chr4:120132363-120134675	HCT-116	colon:	n/a	n/a
14	RCOR1	chr4:120132675-120135062	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120107053..120109251-chr4:120131734..120133629,2	MCF-7	breast:
2	chr4:120059391..120062207-chr4:120131058..120133617,2	MCF-7	breast:
3	chr4:120132453..120136158-chr4:120220202..120223113,6	K562	blood:
4	chr4:120132319..120136069-chr4:120219720..120222326,6	MCF-7	breast:
5	chr4:120132610..120134570-chr4:120221091..120222996,2	MCF-7	breast:
6	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:
7	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
8	chr4:120131661..120133788-chr4:120986266..120989312,3	K562	blood:
9	chr4:119903589..119905538-chr4:120130770..120132703,2	MCF-7	breast:

No data

Variant related genes	Relation type
USP53	TF binding region
ENSG00000164109	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000164096	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11935130	0.83[CHB][hapmap]
rs11946597	1.00[CEU][hapmap]
rs12642637	0.88[ASN][1000 genomes]
rs12644226	0.89[ASN][1000 genomes]
rs12644283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645079	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs12645965	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs17049968	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs1858285	0.83[CHB][hapmap]
rs2102541	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833611	1.00[CEU][hapmap]
rs4834761	0.95[ASN][1000 genomes]
rs4834769	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs55724227	0.80[ASN][1000 genomes]
rs55732167	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55890361	0.93[ASN][1000 genomes]
rs56034803	0.95[ASN][1000 genomes]
rs56083532	0.93[ASN][1000 genomes]
rs57070054	0.88[ASN][1000 genomes]
rs62326301	0.88[ASN][1000 genomes]
rs62326319	0.88[ASN][1000 genomes]
rs62326320	0.88[ASN][1000 genomes]
rs62326341	0.95[ASN][1000 genomes]
rs62326342	0.95[ASN][1000 genomes]
rs62326344	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326345	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326346	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326347	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326348	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326349	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62326352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62328369	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72910519	0.88[ASN][1000 genomes]
rs7694500	0.80[ASN][1000 genomes]
rs7694555	0.80[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4834762	FABP2	cis	Heart Left Ventricle	GTEx
rs4834762	FABP2	cis	Whole Blood	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120117600-120133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:120128000-120132800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:120129000-120132800	Weak transcription	Fetal Heart	heart
4	chr4:120129600-120132800	Enhancers	Hela-S3	cervix
5	chr4:120130600-120132800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:120130800-120132800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:120131000-120132800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:120131200-120132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:120131200-120132800	Weak transcription	Stomach Mucosa	stomach
10	chr4:120131200-120133000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:120131400-120132800	Weak transcription	HSMMtube	muscle
12	chr4:120132000-120137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:120132200-120132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:120132200-120132800	Flanking Active TSS	A549	lung
15	chr4:120132200-120132800	Flanking Active TSS	K562	blood
16	chr4:120132200-120133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:120132200-120135400	Active TSS	Psoas Muscle	Psoas
18	chr4:120132200-120136400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr4:120132400-120132800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr4:120132400-120132800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:120132400-120132800	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:120132400-120132800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr4:120132400-120132800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr4:120132400-120132800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:120132400-120132800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:120132400-120132800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:120132400-120132800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:120132400-120132800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:120132400-120132800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:120132400-120132800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:120132400-120133000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:120132400-120133000	Weak transcription	HSMM	muscle
33	chr4:120132400-120133000	Flanking Active TSS	HUVEC	blood vessel
34	chr4:120132400-120133200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr4:120132400-120134400	Active TSS	Adipose Nuclei	Adipose
36	chr4:120132400-120135200	Active TSS	Left Ventricle	heart
37	chr4:120132400-120135800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:120132400-120136200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:120132400-120136200	Active TSS	NH-A	brain
40	chr4:120132400-120136400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr4:120132400-120136400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:120132400-120136400	Active TSS	Stomach Smooth Muscle	stomach
43	chr4:120132400-120137000	Active TSS	Right Ventricle	heart
44	chr4:120132600-120132800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr4:120132600-120132800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:120132600-120132800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:120132600-120132800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:120132600-120132800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:120132600-120132800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:120132600-120132800	Enhancers	Fetal Brain Female	brain

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