Variant report

Variant	rs28794608
Chromosome Location	chr13:48533828-48533829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10220099	0.82[EUR][1000 genomes]
rs13378425	0.91[EUR][1000 genomes]
rs2031775	0.81[EUR][1000 genomes]
rs2406701	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28628659	0.82[EUR][1000 genomes]
rs4496017	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55845516	0.98[EUR][1000 genomes]
rs6561423	0.98[EUR][1000 genomes]
rs7317676	0.97[EUR][1000 genomes]
rs7319779	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7983350	0.81[EUR][1000 genomes]
rs840431	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs840434	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9316341	0.98[EUR][1000 genomes]
rs9591118	0.82[EUR][1000 genomes]
rs9591119	0.82[EUR][1000 genomes]
rs9591120	0.82[EUR][1000 genomes]
rs9591121	0.91[EUR][1000 genomes]
rs9591122	0.88[EUR][1000 genomes]
rs9591124	0.90[EUR][1000 genomes]
rs9591125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591126	0.98[EUR][1000 genomes]
rs9591128	0.98[EUR][1000 genomes]
rs9595805	0.82[EUR][1000 genomes]
rs9595806	0.82[EUR][1000 genomes]
rs9595809	0.91[EUR][1000 genomes]
rs9595810	0.91[EUR][1000 genomes]
rs9595811	0.91[EUR][1000 genomes]
rs9595814	0.91[EUR][1000 genomes]
rs9595816	0.91[EUR][1000 genomes]
rs9595819	0.90[EUR][1000 genomes]
rs9595826	0.98[EUR][1000 genomes]
rs9595827	0.98[EUR][1000 genomes]
rs9595828	0.98[EUR][1000 genomes]
rs9595830	0.98[EUR][1000 genomes]
rs9595831	0.98[EUR][1000 genomes]
rs9595832	0.97[EUR][1000 genomes]
rs9595833	0.87[EUR][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	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48511000-48536600	Weak transcription	Esophagus	oesophagus
3	chr13:48512600-48537600	Weak transcription	Hela-S3	cervix
4	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:48523000-48541600	Weak transcription	Psoas Muscle	Psoas
6	chr13:48523000-48542600	Weak transcription	K562	blood
7	chr13:48523200-48534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:48523200-48536600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:48528600-48541000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:48529200-48537200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:48529400-48537000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:48529400-48540200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr13:48529600-48535800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:48530000-48535200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr13:48530000-48537200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr13:48530000-48538400	ZNF genes & repeats	Dnd41	blood
18	chr13:48530000-48541000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:48530000-48541200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr13:48530400-48534200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:48530600-48534000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:48530600-48534200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:48530600-48534400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:48530600-48537200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr13:48530600-48538400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr13:48530600-48538800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr13:48530600-48540200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:48530600-48540400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr13:48530800-48534200	ZNF genes & repeats	Fetal Kidney	kidney
30	chr13:48531000-48536800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:48531800-48534000	Weak transcription	Spleen	Spleen
32	chr13:48531800-48536600	Weak transcription	Pancreas	Pancrea
33	chr13:48532000-48536800	Weak transcription	Colonic Mucosa	Colon
34	chr13:48532000-48540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr13:48532200-48534000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:48532200-48534800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr13:48532400-48534000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:48532400-48534000	Strong transcription	Primary B cells from cord blood	blood
41	chr13:48532400-48534000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:48532400-48534000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr13:48532400-48534000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:48532400-48534000	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:48532400-48534000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:48532400-48536200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:48532400-48536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:48532400-48536600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:48532400-48536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:48532400-48536600	Weak transcription	Fetal Stomach	stomach

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