Variant report

Variant	rs73307966
Chromosome Location	chr17:38082073-38082074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr17:38080216-38082094	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:38081714-38082455	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:38081637-38082108	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38080556..38082465-chr17:38135552..38137492,2	MCF-7	breast:
2	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
3	chr17:38080554..38082625-chr17:38096387..38098634,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMB-2	chr17:38082049-38082592	NONHSAT053496

No data

Variant related genes	Relation type
ENSG00000264968	TF binding region
ORMDL3	TF binding region
ENSG00000204913	Chromatin interaction
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2227320	1.00[AMR][1000 genomes]
rs2227327	1.00[AMR][1000 genomes]
rs2227328	1.00[AMR][1000 genomes]
rs57554435	1.00[AMR][1000 genomes]
rs57870574	1.00[AMR][1000 genomes]
rs58089096	1.00[AMR][1000 genomes]
rs58951919	1.00[AMR][1000 genomes]
rs59309776	1.00[AMR][1000 genomes]
rs61225269	1.00[AMR][1000 genomes]
rs73293503	1.00[AMR][1000 genomes]
rs73295294	1.00[AMR][1000 genomes]
rs73297220	1.00[AMR][1000 genomes]
rs73300181	1.00[AMR][1000 genomes]
rs73301225	1.00[AMR][1000 genomes]
rs73301229	1.00[AMR][1000 genomes]
rs73301234	1.00[AMR][1000 genomes]
rs73301238	1.00[AMR][1000 genomes]
rs73302168	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305019	1.00[AMR][1000 genomes]
rs73309981	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
2	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
3	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
4	chr17:38075600-38082200	Genic enhancers	Fetal Intestine Small	intestine
5	chr17:38076600-38082200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:38077200-38082800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:38079400-38082200	Weak transcription	HMEC	breast
8	chr17:38079800-38082200	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr17:38080000-38082600	Flanking Active TSS	Liver	Liver
10	chr17:38080000-38083000	Weak transcription	Ovary	ovary
11	chr17:38080200-38082400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:38080200-38082400	Genic enhancers	Fetal Stomach	stomach
13	chr17:38080200-38082400	Enhancers	NH-A	brain
14	chr17:38080200-38082600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:38080200-38082800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr17:38080400-38082400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:38080400-38082400	Enhancers	NHDF-Ad	bronchial
18	chr17:38080400-38082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:38080400-38082600	Weak transcription	HSMMtube	muscle
20	chr17:38080600-38082200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:38080600-38082200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:38080600-38082200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:38080600-38082200	Enhancers	Stomach Smooth Muscle	stomach
24	chr17:38080600-38082200	Flanking Active TSS	HepG2	liver
25	chr17:38080600-38082200	Enhancers	NHLF	lung
26	chr17:38080600-38082400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:38080600-38082400	Weak transcription	Brain Anterior Caudate	brain
28	chr17:38080600-38082400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:38080600-38082600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr17:38080600-38082600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr17:38080600-38082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:38080600-38082600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr17:38080600-38082600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:38080600-38082600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr17:38080600-38082600	Enhancers	Right Ventricle	heart
36	chr17:38080600-38082600	Enhancers	Stomach Mucosa	stomach
37	chr17:38080600-38082600	Enhancers	A549	lung
38	chr17:38080600-38082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:38080600-38082800	Enhancers	Left Ventricle	heart
40	chr17:38080600-38082800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr17:38080600-38083000	Weak transcription	Aorta	Aorta
42	chr17:38080600-38083000	Enhancers	Lung	lung
43	chr17:38080800-38082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:38080800-38082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:38080800-38082600	Enhancers	Small Intestine	intestine
46	chr17:38080800-38082800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr17:38080800-38082800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr17:38080800-38083000	Enhancers	Gastric	stomach
49	chr17:38080800-38083400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr17:38081000-38082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links