Variant report

Variant	rs992463
Chromosome Location	chr4:119758436-119758437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:119755884-119758441	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SEC24D	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10014331	0.95[ASN][1000 genomes]
rs10019751	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11730732	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11944285	0.89[ASN][1000 genomes]
rs2052769	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28469651	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706123	0.92[ASN][1000 genomes]
rs28783784	0.90[ASN][1000 genomes]
rs6848274	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs767193	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884928	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3377040	chr4:119756129-119758677	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119757200-119758600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:119757800-119758600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:119758000-119758600	Enhancers	Fetal Brain Female	brain
4	chr4:119758000-119762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:119758000-119764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:119758000-119764600	Weak transcription	Psoas Muscle	Psoas
7	chr4:119758200-119758600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:119758200-119758600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:119758200-119758600	Enhancers	Fetal Muscle Trunk	muscle
10	chr4:119758200-119758600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:119758200-119758800	Enhancers	Dnd41	blood
12	chr4:119758200-119759600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:119758200-119759600	Weak transcription	HSMMtube	muscle
14	chr4:119758200-119762400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:119758200-119762800	Weak transcription	HSMM	muscle
16	chr4:119758200-119766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:119758200-119771200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:119758400-119758600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:119758400-119758600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:119758400-119758600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:119758400-119758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:119758400-119758600	Enhancers	Lung	lung
23	chr4:119758400-119758600	Enhancers	HepG2	liver
24	chr4:119758400-119758600	Enhancers	NHEK	skin
25	chr4:119758400-119758800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:119758400-119762200	Weak transcription	NH-A	brain
27	chr4:119758400-119762200	Weak transcription	Osteobl	bone
28	chr4:119758400-119762400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:119758400-119762400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:119758400-119762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:119758400-119762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:119758400-119762600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:119758400-119762600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:119758400-119762600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:119758400-119762600	Weak transcription	HUVEC	blood vessel
36	chr4:119758400-119762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:119758400-119762800	Weak transcription	HMEC	breast
38	chr4:119758400-119762800	Weak transcription	NHDF-Ad	bronchial
39	chr4:119758400-119763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:119758400-119763000	Weak transcription	NHLF	lung

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