Variant report

Variant	rs4358384
Chromosome Location	chr4:8536913-8536914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8527606..8529161-chr4:8536192..8537693,2	MCF-7	breast:
2	chr4:8521151..8523574-chr4:8535830..8537925,2	MCF-7	breast:
3	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
4	chr4:8535864..8537447-chr4:8555763..8557535,2	MCF-7	breast:
5	chr4:8495654..8498484-chr4:8534530..8537327,2	MCF-7	breast:
6	chr4:8531043..8532660-chr4:8536787..8539068,2	K562	blood:
7	chr4:8535273..8538017-chr4:8547280..8549775,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13139429	0.81[AMR][1000 genomes]
rs13140128	0.94[ASN][1000 genomes]
rs16842480	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842483	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842486	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16842498	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16842557	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16842560	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16842563	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3103082	1.00[ASN][1000 genomes]
rs4247232	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4247233	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4259044	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619877	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4696692	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4696693	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4696695	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4696696	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4696838	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55765509	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55789011	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55977448	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56053534	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61258495	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62287446	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62287455	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869600	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs869602	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883607	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv980117	chr4:8535043-8545141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4358384	RP11-689P11.2	cis	lung	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8532600-8542800	Enhancers	Placenta	Placenta
2	chr4:8533200-8542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8533600-8537400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:8533800-8537800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:8535000-8537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:8535000-8537200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:8535000-8541600	Enhancers	Pancreas	Pancrea
8	chr4:8535200-8537400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:8535200-8537400	Enhancers	Fetal Intestine Large	intestine
10	chr4:8535200-8538600	Enhancers	Colon Smooth Muscle	Colon
11	chr4:8535600-8538000	Enhancers	Fetal Kidney	kidney
12	chr4:8535800-8540400	Enhancers	Lung	lung
13	chr4:8536000-8537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:8536000-8537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:8536000-8537800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:8536000-8538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:8536000-8538600	Weak transcription	Fetal Lung	lung
18	chr4:8536000-8538600	Weak transcription	Fetal Stomach	stomach
19	chr4:8536000-8538600	Weak transcription	Gastric	stomach
20	chr4:8536000-8538600	Weak transcription	Ovary	ovary
21	chr4:8536000-8538800	Weak transcription	Colonic Mucosa	Colon
22	chr4:8536000-8541400	Enhancers	Stomach Mucosa	stomach
23	chr4:8536200-8537600	ZNF genes & repeats	GM12878-XiMat	blood
24	chr4:8536400-8537800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:8536400-8538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:8536600-8537000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:8536600-8537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:8536600-8537000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:8536600-8537200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:8536600-8538200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:8536600-8538400	Weak transcription	HSMMtube	muscle
32	chr4:8536600-8538600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:8536600-8538600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:8536600-8538600	Weak transcription	NHEK	skin
35	chr4:8536600-8538800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:8536600-8541400	Enhancers	Esophagus	oesophagus
37	chr4:8536800-8538200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:8536800-8538200	Weak transcription	HMEC	breast
39	chr4:8536800-8538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:8536800-8538800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:8536800-8538800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:8536800-8539600	Enhancers	Fetal Thymus	thymus

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