Variant report

Variant	rs4538513
Chromosome Location	chr4:78124738-78124739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78116886..78120148-chr4:78122009..78124874,3	K562	blood:
2	chr4:77997759..78000070-chr4:78123881..78125820,2	MCF-7	breast:
3	chr4:78122483..78124874-chr4:78125132..78127042,2	MCF-7	breast:
4	chr4:77973136..77974149-chr4:78124472..78125396,4	K562	blood:
5	chr4:77968037..77968611-chr4:78124042..78125032,2	MCF-7	breast:
6	chr4:78111226..78111821-chr4:78124414..78125004,2	MCF-7	breast:
7	chr4:77966536..77967346-chr4:78124518..78125381,3	MCF-7	breast:
8	chr4:77995909..77997574-chr4:78122547..78125037,2	MCF-7	breast:
9	chr4:77972517..77973832-chr4:78124536..78125312,3	MCF-7	breast:
10	chr4:77993291..77996240-chr4:78123279..78125310,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10005142	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10009384	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10010290	0.97[ASN][1000 genomes]
rs10017014	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10018359	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10020351	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10026129	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10026795	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030727	0.83[EUR][1000 genomes]
rs10030735	0.83[EUR][1000 genomes]
rs10030867	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10030957	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10856957	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097728	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097729	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097730	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097741	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500115	0.82[EUR][1000 genomes]
rs12504397	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12508219	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477314	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1559119	0.84[ASN][1000 genomes]
rs1559122	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17397604	0.82[EUR][1000 genomes]
rs1968235	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2042228	0.84[ASN][1000 genomes]
rs28503908	0.82[EUR][1000 genomes]
rs4285107	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4504280	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4536958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582179	0.97[ASN][1000 genomes]
rs4582180	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859475	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859477	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4859751	0.82[EUR][1000 genomes]
rs4859752	0.92[EUR][1000 genomes]
rs4859753	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859754	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859755	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859758	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55663411	0.82[EUR][1000 genomes]
rs6532904	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532919	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6532921	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6822794	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838744	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6840915	0.83[EUR][1000 genomes]
rs6844009	0.84[ASN][1000 genomes]
rs6845599	0.80[EUR][1000 genomes]
rs6857792	0.83[EUR][1000 genomes]
rs7690427	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1011551	chr4:78120872-78204224	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012298	chr4:78120872-78255427	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78120400-78124800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:78120600-78125200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:78122400-78125000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78122600-78124800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:78122600-78125200	Enhancers	Stomach Mucosa	stomach
6	chr4:78122800-78124800	Enhancers	Fetal Intestine Large	intestine
7	chr4:78122800-78125400	Enhancers	HSMM	muscle
8	chr4:78123000-78124800	Enhancers	Fetal Intestine Small	intestine
9	chr4:78123400-78124800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:78123600-78124800	Enhancers	Duodenum Mucosa	Duodenum
11	chr4:78123600-78124800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:78123600-78125200	Enhancers	HMEC	breast
13	chr4:78124000-78124800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:78124000-78125200	Enhancers	NHEK	skin
15	chr4:78124200-78125200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:78124400-78124800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:78124400-78124800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:78124400-78125000	Enhancers	GM12878-XiMat	blood
19	chr4:78124400-78125200	Enhancers	Primary B cells from cord blood	blood
20	chr4:78124400-78125200	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:78124600-78124800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr4:78124600-78124800	Enhancers	HSMMtube	muscle
23	chr4:78124600-78125000	Enhancers	Primary T cells from cord blood	blood
24	chr4:78124600-78125000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:78124600-78125200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:78124600-78125200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr4:78124600-78125200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:78124600-78125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:78124600-78125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:78124600-78125200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:78124600-78125200	Enhancers	Fetal Muscle Leg	muscle
32	chr4:78124600-78125200	Enhancers	Fetal Thymus	thymus
33	chr4:78124600-78125200	Enhancers	Sigmoid Colon	Sigmoid Colon

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