Variant report

Variant	rs16941731
Chromosome Location	chr17:45317022-45317023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:
2	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
3	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
4	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16941733	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969966	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056132	0.85[AMR][1000 genomes]
rs34251886	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3892085	0.93[CHB][hapmap]
rs4289057	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67972765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208055	0.89[ASN][1000 genomes]
rs8080989	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv521092	chr17:45309693-45317499	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs16941731	KRT36	cis	cerebellum	SCAN
rs16941731	WNK4	cis	cerebellum	SCAN
rs16941731	DCAKD	cis	parietal	SCAN
rs16941731	DHX58	cis	parietal	SCAN
rs16941731	HAP1	cis	parietal	SCAN
rs16941731	IFI35	cis	cerebellum	SCAN
rs16941731	HOXB3	cis	cerebellum	SCAN
rs16941731	RAMP2	cis	cerebellum	SCAN
rs16941731	LOC388387	cis	cerebellum	SCAN
rs16941731	NMT1	cis	cerebellum	SCAN
rs16941731	ATXN7L3	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45315800-45317200	Weak transcription	Spleen	Spleen
4	chr17:45316000-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:45316000-45321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:45316200-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45316200-45318600	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45316400-45317800	Enhancers	HUVEC	blood vessel
9	chr17:45316400-45318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:45316400-45318600	Enhancers	Fetal Heart	heart
11	chr17:45316400-45318600	Enhancers	Fetal Intestine Large	intestine
12	chr17:45316600-45317200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr17:45316600-45317200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:45316600-45317800	Enhancers	Brain Substantia Nigra	brain
15	chr17:45316600-45318000	Enhancers	Hela-S3	cervix
16	chr17:45316600-45318400	Enhancers	NHLF	lung
17	chr17:45316600-45318600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:45316600-45318600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:45316600-45318600	Enhancers	Fetal Intestine Small	intestine
20	chr17:45316600-45318600	Enhancers	Placenta	Placenta
21	chr17:45316600-45318600	Enhancers	Left Ventricle	heart
22	chr17:45316600-45318600	Enhancers	Psoas Muscle	Psoas
23	chr17:45316600-45318600	Enhancers	Right Atrium	heart
24	chr17:45316600-45318600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr17:45316600-45318600	Enhancers	NH-A	brain
26	chr17:45316600-45318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:45316800-45317600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:45316800-45317600	Enhancers	Brain Anterior Caudate	brain
29	chr17:45316800-45317600	Enhancers	Brain Cingulate Gyrus	brain
30	chr17:45316800-45317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45316800-45317800	Enhancers	Osteobl	bone
32	chr17:45316800-45318200	Enhancers	Colon Smooth Muscle	Colon
33	chr17:45316800-45318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:45316800-45318400	Enhancers	Brain Hippocampus Middle	brain
35	chr17:45316800-45318400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr17:45316800-45318400	Enhancers	NHEK	skin
37	chr17:45316800-45318600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:45316800-45318600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:45316800-45318600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:45316800-45318600	Enhancers	Adipose Nuclei	Adipose
41	chr17:45316800-45318600	Enhancers	Aorta	Aorta
42	chr17:45316800-45318600	Enhancers	HMEC	breast
43	chr17:45316800-45318600	Enhancers	HSMM	muscle
44	chr17:45316800-45318600	Enhancers	HSMMtube	muscle
45	chr17:45316800-45318600	Enhancers	K562	blood
46	chr17:45316800-45318600	Enhancers	NHDF-Ad	bronchial
47	chr17:45316800-45318800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:45317000-45317600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr17:45317000-45317800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:45317000-45317800	Enhancers	Brain Angular Gyrus	brain

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