Variant report

Variant	rs7214783
Chromosome Location	chr17:38522262-38522263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38522204-38522280	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38521277..38523085-chr17:38528070..38529798,2	MCF-7	breast:
2	chr17:38520986..38523946-chr17:38565691..38567374,2	K562	blood:
3	chr17:38521338..38524063-chr20:52739118..52741118,2	MCF-7	breast:
4	chr17:38518117..38522815-chr17:38572084..38576075,6	K562	blood:
5	chr17:38522230..38526031-chr17:38544270..38547850,3	K562	blood:
6	chr17:38513629..38516264-chr17:38521253..38522919,2	K562	blood:
7	chr17:38516676..38522970-chr17:38526479..38531615,7	K562	blood:
8	chr17:38519063..38522724-chr17:38572084..38575827,4	K562	blood:
9	chr17:38513629..38517402-chr17:38520786..38522919,4	K562	blood:
10	chr17:38520105..38523577-chr17:38714528..38718699,3	MCF-7	breast:
11	chr17:38518954..38522619-chr17:38522651..38526372,7	MCF-7	breast:

No data

Variant related genes	Relation type
GJD3	TF binding region
ENSG00000264655	TF binding region
ENSG00000126353	Chromatin interaction
ENSG00000264655	Chromatin interaction
ENSG00000252618	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000266208	Chromatin interaction
ENSG00000222881	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1104761	0.85[EUR][1000 genomes]
rs15685	0.85[EUR][1000 genomes]
rs17616543	0.85[EUR][1000 genomes]
rs17616672	0.85[EUR][1000 genomes]
rs17616879	0.85[EUR][1000 genomes]
rs17617263	0.85[EUR][1000 genomes]
rs17678817	0.85[EUR][1000 genomes]
rs17678959	0.85[EUR][1000 genomes]
rs17678990	0.85[EUR][1000 genomes]
rs17679086	0.85[EUR][1000 genomes]
rs17679361	0.85[EUR][1000 genomes]
rs17680217	0.85[EUR][1000 genomes]
rs17680410	0.85[EUR][1000 genomes]
rs17680507	0.85[EUR][1000 genomes]
rs17680624	0.85[EUR][1000 genomes]
rs2012667	0.85[EUR][1000 genomes]
rs2229773	0.85[EUR][1000 genomes]
rs28362321	0.85[EUR][1000 genomes]
rs33998939	0.85[EUR][1000 genomes]
rs35783632	0.85[EUR][1000 genomes]
rs35898909	0.85[EUR][1000 genomes]
rs41283423	0.85[EUR][1000 genomes]
rs4134993	0.85[EUR][1000 genomes]
rs4134998	0.85[EUR][1000 genomes]
rs4135005	0.85[EUR][1000 genomes]
rs4135007	0.85[EUR][1000 genomes]
rs4135012	0.85[EUR][1000 genomes]
rs4135019	0.85[EUR][1000 genomes]
rs4135021	0.85[EUR][1000 genomes]
rs4135027	0.85[EUR][1000 genomes]
rs4135030	0.85[EUR][1000 genomes]
rs45612441	0.85[EUR][1000 genomes]
rs7218663	0.87[AFR][1000 genomes]
rs9891944	0.85[EUR][1000 genomes]
rs9906274	0.85[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908222	chr17:38504241-38526973	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38520200-38522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:38520400-38522600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:38520400-38522600	Weak transcription	Dnd41	blood
4	chr17:38520400-38522800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:38520600-38522800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr17:38520800-38528400	Weak transcription	HepG2	liver
7	chr17:38521000-38527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:38521000-38530200	Weak transcription	Stomach Mucosa	stomach
9	chr17:38521200-38522600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:38521200-38522800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:38521200-38523600	Weak transcription	Pancreas	Pancrea
12	chr17:38521200-38527800	Weak transcription	Spleen	Spleen
13	chr17:38521400-38522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:38521400-38522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:38521400-38522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:38521400-38522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:38521400-38523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:38521400-38523800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:38521400-38527600	Weak transcription	K562	blood
20	chr17:38521400-38541800	Weak transcription	A549	lung
21	chr17:38521600-38528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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