Variant report

Variant	rs13127367
Chromosome Location	chr4:86648233-86648234
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097071	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11945319	0.82[EUR][1000 genomes]
rs12498959	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12505724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506038	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12507198	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12507272	0.90[ASN][1000 genomes]
rs12508919	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12509904	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12510148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12510813	0.90[ASN][1000 genomes]
rs13102863	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13106553	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13108523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110485	0.90[ASN][1000 genomes]
rs13110928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13121597	0.90[ASN][1000 genomes]
rs13134382	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13135703	0.90[ASN][1000 genomes]
rs13136153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13137575	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139248	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13147689	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17010851	0.82[EUR][1000 genomes]
rs17010857	0.82[EUR][1000 genomes]
rs17010863	0.82[EUR][1000 genomes]
rs1966862	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2004613	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34056429	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34322771	0.89[ASN][1000 genomes]
rs34820504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35250811	0.87[ASN][1000 genomes]
rs35341700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35472747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35577842	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3889735	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693127	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4693731	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4693734	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4693735	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4693736	0.82[EUR][1000 genomes]
rs58146546	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6813860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71599423	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72974953	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7676486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900204	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9998523	0.90[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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86644000-86650200	Enhancers	NHDF-Ad	bronchial
2	chr4:86645000-86650200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86646000-86649000	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:86646400-86648400	Enhancers	Fetal Muscle Leg	muscle
5	chr4:86646400-86649000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:86646600-86648400	Enhancers	Pancreas	Pancrea
7	chr4:86646600-86648400	Enhancers	Right Atrium	heart
8	chr4:86646800-86649400	Weak transcription	Fetal Kidney	kidney
9	chr4:86647000-86649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:86647000-86653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
12	chr4:86647200-86653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:86647400-86649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:86647400-86652400	Weak transcription	Stomach Mucosa	stomach
16	chr4:86647400-86653200	Weak transcription	Fetal Heart	heart
17	chr4:86647600-86649200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:86647600-86649800	Weak transcription	HSMMtube	muscle
19	chr4:86647600-86652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:86647600-86653400	Weak transcription	Fetal Lung	lung
21	chr4:86647800-86649400	Weak transcription	HSMM	muscle
22	chr4:86647800-86649800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:86647800-86651000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:86647800-86653200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:86647800-86654600	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:86647800-86655600	Weak transcription	Small Intestine	intestine
27	chr4:86647800-86656600	Weak transcription	Brain Anterior Caudate	brain
28	chr4:86647800-86656600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
30	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
31	chr4:86648000-86648400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:86648000-86649000	Enhancers	K562	blood
33	chr4:86648000-86650000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:86648000-86650200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:86648000-86652800	Weak transcription	GM12878-XiMat	blood
36	chr4:86648000-86654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:86648000-86655200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:86648200-86649600	Weak transcription	Adipose Nuclei	Adipose
39	chr4:86648200-86654600	Weak transcription	Primary B cells from cord blood	blood

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