Variant report

Variant	rs16996716
Chromosome Location	chr4:102141218-102141219
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11935869	1.00[CEU][hapmap]
rs11936232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938557	1.00[ASN][1000 genomes]
rs11943655	1.00[MEX][hapmap]
rs1441434	1.00[MEX][hapmap]
rs17030762	1.00[MEX][hapmap]
rs17030994	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3730250	1.00[MEX][hapmap]
rs3730251	1.00[CEU][hapmap]
rs58053659	1.00[ASN][1000 genomes]
rs58964732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540931	1.00[ASN][1000 genomes]
rs59814763	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6532923	1.00[CEU][hapmap]
rs6819434	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6828770	1.00[MEX][hapmap]
rs73833275	1.00[ASN][1000 genomes]
rs73833302	1.00[ASN][1000 genomes]
rs9686022	1.00[MEX][hapmap]
rs9990724	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102131800-102146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:102133000-102143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:102133000-102143800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:102133200-102142400	Weak transcription	HSMM	muscle
5	chr4:102133200-102143600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:102135800-102145200	Weak transcription	Small Intestine	intestine
7	chr4:102136000-102141600	Weak transcription	Stomach Mucosa	stomach
8	chr4:102136000-102144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:102136000-102145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:102138400-102144800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:102139200-102144000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:102139200-102144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:102139200-102145600	Weak transcription	Ovary	ovary
14	chr4:102139400-102152000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:102139600-102142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:102140000-102141800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:102140000-102144600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:102140200-102142600	Weak transcription	NHLF	lung
19	chr4:102140200-102143400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:102140200-102144400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:102140200-102146600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:102140400-102141400	Weak transcription	Brain Substantia Nigra	brain
23	chr4:102140400-102141400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:102140400-102142200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:102140400-102142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:102140400-102142400	Weak transcription	NHDF-Ad	bronchial
27	chr4:102140400-102143600	Enhancers	A549	lung
28	chr4:102140400-102143800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:102140400-102144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:102140400-102144200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:102140600-102141800	Weak transcription	Brain Anterior Caudate	brain
32	chr4:102140600-102142800	Weak transcription	HUVEC	blood vessel
33	chr4:102140600-102142800	Weak transcription	Osteobl	bone
34	chr4:102140600-102144000	Weak transcription	Fetal Intestine Large	intestine
35	chr4:102141000-102141800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:102141200-102142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:102141200-102143000	Enhancers	Adipose Nuclei	Adipose

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