Variant report

Variant	rs4584084
Chromosome Location	chr7:102079764-102079765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102079746-102079819	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:102079059-102079813	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:102079192-102079848	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:102079198-102079961	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:102079604..102082323-chr7:102098153..102099858,2	K562	blood:
2	chr7:102077007..102082389-chr7:102085865..102088715,6	K562	blood:
3	chr7:102076234..102078116-chr7:102079092..102080938,2	MCF-7	breast:
4	chr7:102050859..102052612-chr7:102079308..102081961,2	K562	blood:
5	chr7:102078066..102079925-chr7:102090225..102091966,2	MCF-7	breast:
6	chr7:102079057..102082389-chr7:102085865..102088701,3	K562	blood:
7	chr7:102079222..102081344-chr7:102111706..102113322,2	MCF-7	breast:
8	chr7:102071879..102076945-chr7:102079326..102082445,6	MCF-7	breast:
9	chr7:102079461..102082152-chr7:102104295..102106283,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239480	TF binding region
ENSG00000264471	Chromatin interaction
ENSG00000160993	Chromatin interaction
ENSG00000161036	Chromatin interaction
ENSG00000239480	Chromatin interaction
ENSG00000266715	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10229440	1.00[ASN][1000 genomes]
rs1134521	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672177	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17135196	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950183	0.85[ASN][1000 genomes]
rs3823656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823933	1.00[ASN][1000 genomes]
rs55893391	0.99[ASN][1000 genomes]
rs55953136	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411810	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62482947	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62482951	1.00[ASN][1000 genomes]
rs62482952	1.00[ASN][1000 genomes]
rs62482953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958346	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	esv1832541	chr7:102072448-102328097	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4584084	PDAP1	cis	parietal	SCAN
rs4584084	PILRB	cis	parietal	SCAN
rs4584084	FBXO24	cis	parietal	SCAN
rs4584084	PILRA	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074600-102085400	Weak transcription	Gastric	stomach
2	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
3	chr7:102074800-102080400	Weak transcription	Small Intestine	intestine
4	chr7:102075000-102080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:102075000-102080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:102075000-102080600	Weak transcription	HSMM	muscle
7	chr7:102075000-102080800	Weak transcription	Right Atrium	heart
8	chr7:102075000-102082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
10	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:102075200-102080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:102075200-102080400	Weak transcription	HMEC	breast
14	chr7:102075200-102080400	Weak transcription	NHDF-Ad	bronchial
15	chr7:102075200-102080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:102075200-102080600	Weak transcription	Left Ventricle	heart
17	chr7:102075200-102080600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:102075200-102080600	Weak transcription	Hela-S3	cervix
19	chr7:102075200-102080600	Weak transcription	K562	blood
20	chr7:102075200-102080800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:102075200-102082000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:102075200-102085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:102075200-102086800	Weak transcription	Liver	Liver
24	chr7:102075200-102086800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:102075200-102086800	Weak transcription	Colonic Mucosa	Colon
26	chr7:102075200-102086800	Weak transcription	Fetal Intestine Large	intestine
27	chr7:102075200-102087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:102075200-102092000	Weak transcription	Esophagus	oesophagus
29	chr7:102075200-102095200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:102075200-102097600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:102075200-102104200	Weak transcription	Fetal Kidney	kidney
32	chr7:102075400-102080400	Weak transcription	NH-A	brain
33	chr7:102075400-102080600	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:102075400-102080800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:102075400-102080800	Weak transcription	Fetal Heart	heart
36	chr7:102075400-102080800	Weak transcription	HepG2	liver
37	chr7:102075400-102082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:102075400-102087000	Weak transcription	Placenta	Placenta
39	chr7:102075400-102087000	Weak transcription	Pancreas	Pancrea
40	chr7:102075400-102087000	Weak transcription	Dnd41	blood
41	chr7:102075400-102097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:102075600-102103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:102075800-102080200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:102075800-102103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:102076000-102085400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:102076000-102086800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:102076000-102097600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:102076000-102104200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:102076200-102084200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:102076400-102083200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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