Variant report

Variant	rs17605348
Chromosome Location	chr17:45317499-45317500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45290579..45293565-chr17:45317348..45318861,2	K562	blood:
2	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
3	chr17:45308918..45311294-chr17:45317434..45318977,2	K562	blood:
4	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
5	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:

Variant related genes	Relation type
ENSG00000259753	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16941855	1.00[LWK][hapmap]
rs16941864	1.00[LWK][hapmap]
rs55821487	1.00[ASN][1000 genomes]
rs57626867	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58097871	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60544493	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73314788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73329176	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73985148	0.93[EUR][1000 genomes];0.90[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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45316000-45321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:45316200-45318600	Enhancers	Fetal Muscle Leg	muscle
4	chr17:45316400-45317800	Enhancers	HUVEC	blood vessel
5	chr17:45316400-45318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:45316400-45318600	Enhancers	Fetal Heart	heart
7	chr17:45316400-45318600	Enhancers	Fetal Intestine Large	intestine
8	chr17:45316600-45317800	Enhancers	Brain Substantia Nigra	brain
9	chr17:45316600-45318000	Enhancers	Hela-S3	cervix
10	chr17:45316600-45318400	Enhancers	NHLF	lung
11	chr17:45316600-45318600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr17:45316600-45318600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:45316600-45318600	Enhancers	Fetal Intestine Small	intestine
14	chr17:45316600-45318600	Enhancers	Placenta	Placenta
15	chr17:45316600-45318600	Enhancers	Left Ventricle	heart
16	chr17:45316600-45318600	Enhancers	Psoas Muscle	Psoas
17	chr17:45316600-45318600	Enhancers	Right Atrium	heart
18	chr17:45316600-45318600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr17:45316600-45318600	Enhancers	NH-A	brain
20	chr17:45316600-45318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45316800-45317600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45316800-45317600	Enhancers	Brain Anterior Caudate	brain
23	chr17:45316800-45317600	Enhancers	Brain Cingulate Gyrus	brain
24	chr17:45316800-45317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:45316800-45317800	Enhancers	Osteobl	bone
26	chr17:45316800-45318200	Enhancers	Colon Smooth Muscle	Colon
27	chr17:45316800-45318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45316800-45318400	Enhancers	Brain Hippocampus Middle	brain
29	chr17:45316800-45318400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr17:45316800-45318400	Enhancers	NHEK	skin
31	chr17:45316800-45318600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr17:45316800-45318600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:45316800-45318600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:45316800-45318600	Enhancers	Adipose Nuclei	Adipose
35	chr17:45316800-45318600	Enhancers	Aorta	Aorta
36	chr17:45316800-45318600	Enhancers	HMEC	breast
37	chr17:45316800-45318600	Enhancers	HSMM	muscle
38	chr17:45316800-45318600	Enhancers	HSMMtube	muscle
39	chr17:45316800-45318600	Enhancers	K562	blood
40	chr17:45316800-45318600	Enhancers	NHDF-Ad	bronchial
41	chr17:45316800-45318800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:45317000-45317600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr17:45317000-45317800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:45317000-45317800	Enhancers	Brain Angular Gyrus	brain
45	chr17:45317000-45317800	Enhancers	Duodenum Mucosa	Duodenum
46	chr17:45317000-45317800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr17:45317000-45317800	Enhancers	Rectal Smooth Muscle	rectum
48	chr17:45317000-45318000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:45317000-45318000	Enhancers	Primary hematopoietic stem cells	blood
50	chr17:45317000-45318000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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