Variant report

Variant	rs9596177
Chromosome Location	chr13:50291332-50291333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50284596..50287038-chr13:50289146..50291818,2	K562	blood:
2	chr13:50289905..50291806-chr13:50365291..50367807,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

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

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

rs_ID	r²[population]
rs10220086	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7318922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7990342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7993281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7993565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8000293	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8001656	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002212	0.88[AFR][1000 genomes];1.00[AMR][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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
2	chr13:50266200-50296000	Weak transcription	K562	blood
3	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:50266200-50307800	Weak transcription	Gastric	stomach
6	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
8	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
9	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
10	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
12	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
13	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:50276000-50291800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
16	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
17	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
18	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:50280400-50291600	Weak transcription	HMEC	breast
21	chr13:50280600-50295800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:50280600-50296000	Weak transcription	Colon Smooth Muscle	Colon
23	chr13:50283000-50296000	Weak transcription	HSMMtube	muscle
24	chr13:50283400-50294600	Weak transcription	Lung	lung
25	chr13:50284000-50293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:50284600-50292000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:50285200-50295200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:50287800-50291400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:50287800-50293000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:50289400-50292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:50289600-50291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:50289600-50292600	Strong transcription	A549	lung
33	chr13:50289600-50294000	Strong transcription	Fetal Lung	lung
34	chr13:50289600-50294800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50289600-50296800	Strong transcription	Fetal Thymus	thymus
36	chr13:50289800-50292800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr13:50289800-50294800	Strong transcription	Brain Anterior Caudate	brain
38	chr13:50289800-50296000	Weak transcription	GM12878-XiMat	blood
39	chr13:50289800-50296600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:50290000-50291800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:50290000-50291800	Weak transcription	Brain Angular Gyrus	brain
42	chr13:50290000-50291800	Weak transcription	Fetal Brain Male	brain
43	chr13:50290000-50291800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr13:50290000-50292000	Weak transcription	Fetal Kidney	kidney
45	chr13:50290000-50293000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:50290000-50294000	Strong transcription	Primary B cells from cord blood	blood
47	chr13:50290000-50294200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:50290000-50294400	Strong transcription	NHDF-Ad	bronchial
49	chr13:50290000-50294800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr13:50290000-50295000	Strong transcription	HUVEC	blood vessel

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