Variant report

Variant	rs16941807
Chromosome Location	chr17:45358023-45358024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45329741..45331334-chr17:45355703..45358331,2	K562	blood:
3	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

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

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

rs_ID	r²[population]
rs10468569	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941711	1.00[AMR][1000 genomes]
rs16941796	1.00[AMR][1000 genomes]
rs16941912	1.00[EUR][1000 genomes]
rs55827775	1.00[EUR][1000 genomes]
rs59747203	1.00[EUR][1000 genomes]
rs73985161	1.00[EUR][1000 genomes]
rs73985162	1.00[EUR][1000 genomes]
rs73985163	1.00[EUR][1000 genomes]
rs8064853	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075031	1.00[EUR][1000 genomes]
rs9807023	1.00[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr17:45351800-45358200	Enhancers	Lung	lung
4	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:45352000-45358800	Enhancers	NHLF	lung
6	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:45353000-45358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:45353400-45358200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45354600-45359000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
12	chr17:45355600-45358400	Enhancers	Left Ventricle	heart
13	chr17:45355600-45359200	Enhancers	Placenta	Placenta
14	chr17:45355800-45358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:45355800-45358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:45356000-45358200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:45356000-45358200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:45356000-45358200	Enhancers	Right Atrium	heart
19	chr17:45356000-45358200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:45356000-45358200	Enhancers	Spleen	Spleen
21	chr17:45356000-45359200	Enhancers	HMEC	breast
22	chr17:45356200-45358200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:45356200-45362000	Weak transcription	Liver	Liver
24	chr17:45356400-45358200	Enhancers	Fetal Kidney	kidney
25	chr17:45356400-45358200	Genic enhancers	Fetal Muscle Leg	muscle
26	chr17:45356600-45358200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr17:45356600-45358400	Enhancers	HSMM	muscle
28	chr17:45356800-45359000	Enhancers	K562	blood
29	chr17:45356800-45359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
31	chr17:45357000-45358200	Enhancers	Colonic Mucosa	Colon
32	chr17:45357000-45358200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr17:45357200-45358200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:45357200-45358400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:45357200-45358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:45357200-45359000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr17:45357200-45359800	Weak transcription	HUVEC	blood vessel
38	chr17:45357200-45363800	Weak transcription	Fetal Heart	heart
39	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
40	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
41	chr17:45357400-45358200	Enhancers	Adipose Nuclei	Adipose
42	chr17:45357400-45358800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:45357400-45359000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:45357600-45358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:45357600-45358200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr17:45357600-45358400	Enhancers	NH-A	brain
47	chr17:45357600-45358600	Enhancers	Colon Smooth Muscle	Colon
48	chr17:45357600-45358800	Enhancers	NHDF-Ad	bronchial
49	chr17:45357600-45359000	Enhancers	Osteobl	bone
50	chr17:45357600-45359200	Enhancers	GM12878-XiMat	blood

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