Variant report

Variant	rs9913148
Chromosome Location	chr17:38199483-38199484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38198077..38199665-chr17:38218747..38220727,2	K562	blood:
2	chr17:38197685..38199542-chr17:38200840..38203788,2	K562	blood:
3	chr17:38197704..38200471-chr17:38216967..38220233,3	K562	blood:
4	chr17:38191456..38193795-chr17:38198203..38200454,3	K562	blood:
5	chr17:38191590..38193239-chr17:38198597..38200448,2	K562	blood:

Variant related genes	Relation type
ENSG00000008838	Chromatin interaction
ENSG00000126351	Chromatin interaction

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

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

rs_ID	r²[population]
rs11078937	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28527215	0.97[AFR][1000 genomes]
rs36055799	0.87[AFR][1000 genomes]
rs6503535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6503536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077700	0.92[AFR][1000 genomes]
rs8082130	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9892118	0.97[AFR][1000 genomes]
rs9903676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9912903	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9916152	0.97[AFR][1000 genomes];1.00[AMR][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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38186600-38209800	Weak transcription	Small Intestine	intestine
2	chr17:38188800-38209400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:38189600-38206600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:38189600-38209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:38189600-38209600	Weak transcription	Psoas Muscle	Psoas
6	chr17:38190600-38209600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:38191000-38208800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:38191400-38201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:38191800-38206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:38192000-38209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:38192200-38206600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:38192200-38209400	Weak transcription	Fetal Brain Male	brain
13	chr17:38192200-38209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:38192400-38209600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:38192400-38209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:38192400-38209600	Weak transcription	Colonic Mucosa	Colon
17	chr17:38192400-38209800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:38192400-38210000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:38192600-38201400	Weak transcription	Lung	lung
20	chr17:38192600-38201800	Weak transcription	Fetal Brain Female	brain
21	chr17:38192600-38203200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:38192600-38205600	Weak transcription	Spleen	Spleen
23	chr17:38192600-38206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38192600-38206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:38192600-38208600	Weak transcription	NHEK	skin
26	chr17:38192600-38209400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:38192600-38209800	Weak transcription	Aorta	Aorta
28	chr17:38193200-38203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:38193200-38203200	Weak transcription	Dnd41	blood
30	chr17:38193600-38208600	Weak transcription	K562	blood
31	chr17:38193800-38206600	Weak transcription	Esophagus	oesophagus
32	chr17:38195400-38203200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:38195400-38206400	Weak transcription	Ovary	ovary
34	chr17:38195400-38209600	Weak transcription	Pancreas	Pancrea
35	chr17:38195600-38199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:38195600-38204400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:38195600-38206400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:38195600-38206600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:38195600-38206600	Weak transcription	Brain Substantia Nigra	brain
40	chr17:38195600-38206600	Weak transcription	A549	lung
41	chr17:38195600-38206600	Weak transcription	HMEC	breast
42	chr17:38195600-38208000	Weak transcription	Fetal Kidney	kidney
43	chr17:38195600-38208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:38195600-38209400	Weak transcription	Hela-S3	cervix
45	chr17:38195800-38201000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:38195800-38201000	Weak transcription	Osteobl	bone
47	chr17:38195800-38201400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:38195800-38201400	Weak transcription	Right Ventricle	heart
49	chr17:38195800-38203000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:38195800-38203000	Weak transcription	HepG2	liver

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