Variant report

Variant	rs9396184
Chromosome Location	chr6:56112952-56112953
allele	A/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	KAP1	chr6:56111703-56113202	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
COL21A1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11757974	1.00[LWK][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs13195010	0.81[EUR][1000 genomes]
rs13202214	0.83[TSI][hapmap]
rs13219390	0.85[TSI][hapmap]
rs1925159	0.84[EUR][1000 genomes]
rs2397215	1.00[LWK][hapmap]
rs4119564	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4119565	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4544909	1.00[LWK][hapmap]
rs724678	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs9349805	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9382596	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56109400-56113000	Active TSS	Aorta	Aorta
2	chr6:56111400-56113000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:56111400-56113000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:56111400-56113000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:56111600-56113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:56111600-56113000	Flanking Active TSS	Osteobl	bone
7	chr6:56111800-56113000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:56112400-56113000	Flanking Active TSS	Fetal Lung	lung
9	chr6:56112400-56113400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:56112600-56113000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:56112600-56113000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:56112600-56113000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:56112600-56113000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:56112600-56113000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:56112600-56113000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:56112600-56113000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr6:56112600-56113000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr6:56112600-56113200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr6:56112600-56113200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:56112600-56113200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr6:56112600-56113200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr6:56112800-56113000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:56112800-56113000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:56112800-56113000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:56112800-56113000	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr6:56112800-56113000	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr6:56112800-56113000	Bivalent/Poised TSS	Fetal Brain Male	brain
28	chr6:56112800-56113000	Enhancers	Fetal Heart	heart
29	chr6:56112800-56113000	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:56112800-56113000	Enhancers	Fetal Muscle Leg	muscle
31	chr6:56112800-56113000	Bivalent Enhancer	Fetal Stomach	stomach
32	chr6:56112800-56113000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr6:56112800-56113000	Bivalent/Poised TSS	NHLF	lung
34	chr6:56112800-56113200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:56112800-56113200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:56112800-56113200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:56112800-56113200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr6:56112800-56113200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr6:56112800-56113200	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:56112800-56113200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:56112800-56115200	Weak transcription	Lung	lung
42	chr6:56112800-56115200	Weak transcription	Pancreas	Pancrea
43	chr6:56112800-56116600	Weak transcription	Psoas Muscle	Psoas

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