Variant report

Variant	rs16941801
Chromosome Location	chr17:45354543-45354544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45264009..45265710-chr17:45352857..45355559,2	K562	blood:
2	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11656809	0.82[EUR][1000 genomes]
rs12949936	0.82[EUR][1000 genomes]
rs15908	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2015729	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292699	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2292863	0.83[EUR][1000 genomes]
rs2292865	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3851807	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634	0.82[EUR][1000 genomes]
rs4642	0.82[EUR][1000 genomes]
rs56327427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209700	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7212751	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7214468	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7217710	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7218632	0.98[ASN][1000 genomes]
rs8073827	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8074348	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077753	0.85[EUR][1000 genomes]
rs999323	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:45350600-45355000	Enhancers	Aorta	Aorta
3	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:45351200-45357800	Enhancers	Ovary	ovary
5	chr17:45351600-45354600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr17:45351600-45354800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45351600-45356000	Enhancers	NHDF-Ad	bronchial
8	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
9	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr17:45351800-45354600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45351800-45355000	Enhancers	Right Atrium	heart
12	chr17:45351800-45356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:45351800-45356000	Enhancers	Adipose Nuclei	Adipose
14	chr17:45351800-45358200	Enhancers	Lung	lung
15	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:45352000-45354600	Enhancers	HMEC	breast
17	chr17:45352000-45358800	Enhancers	NHLF	lung
18	chr17:45352200-45354600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr17:45352200-45354600	Enhancers	NH-A	brain
20	chr17:45352200-45355000	Enhancers	Fetal Intestine Large	intestine
21	chr17:45352200-45355200	Enhancers	Colonic Mucosa	Colon
22	chr17:45352200-45355200	Enhancers	Placenta	Placenta
23	chr17:45352200-45356400	Enhancers	Fetal Muscle Leg	muscle
24	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr17:45352400-45354600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:45352400-45354600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45352400-45354600	Enhancers	Brain Substantia Nigra	brain
28	chr17:45352400-45354600	Enhancers	Fetal Kidney	kidney
29	chr17:45352400-45354800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:45352400-45354800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr17:45352400-45354800	Enhancers	Right Ventricle	heart
32	chr17:45352400-45355000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:45352400-45355000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:45352400-45355200	Enhancers	Left Ventricle	heart
35	chr17:45352400-45356200	Enhancers	GM12878-XiMat	blood
36	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr17:45352600-45354600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr17:45352600-45354600	Enhancers	Brain Hippocampus Middle	brain
39	chr17:45352600-45354600	Enhancers	Esophagus	oesophagus
40	chr17:45352600-45354600	Enhancers	Fetal Muscle Trunk	muscle
41	chr17:45352600-45354600	Enhancers	Pancreas	Pancrea
42	chr17:45352600-45354600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr17:45352600-45354800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:45352600-45354800	Enhancers	Spleen	Spleen
45	chr17:45352600-45355000	Enhancers	Fetal Intestine Small	intestine
46	chr17:45352600-45355000	Enhancers	Psoas Muscle	Psoas
47	chr17:45352600-45355000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr17:45352600-45355000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr17:45352600-45355000	Enhancers	Stomach Mucosa	stomach
50	chr17:45352600-45355400	Enhancers	Liver	Liver

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