Variant report

Variant	rs8081819
Chromosome Location	chr17:38645559-38645560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38644489..38646400-chr17:38673085..38675357,2	K562	blood:
2	chr17:38640863..38643911-chr17:38644729..38647819,3	MCF-7	breast:
3	chr17:38643110..38644639-chr17:38644908..38646867,2	MCF-7	breast:
4	chr17:38600534..38602477-chr17:38644496..38646702,2	K562	blood:
5	chr17:38632398..38634313-chr17:38645464..38649244,3	MCF-7	breast:
6	chr17:38645169..38647955-chr17:38652977..38654925,2	K562	blood:
7	chr17:38597960..38600391-chr17:38643714..38646429,2	MCF-7	breast:
8	chr17:38642999..38645925-chr17:38647445..38650025,2	K562	blood:
9	chr17:38640983..38649598-chr17:38652430..38659338,11	MCF-7	breast:
10	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:
11	chr17:38645404..38649775-chr17:38650279..38653252,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266088	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12942610	0.85[ASN][1000 genomes]
rs1901187	1.00[ASN][1000 genomes]
rs2290206	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290207	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34377860	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453034	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34456044	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879399	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35260012	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764424	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214311	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9303289	0.98[ASN][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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:38636000-38649600	Genic enhancers	HMEC	breast
5	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
6	chr17:38637400-38648200	Genic enhancers	NHEK	skin
7	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:38638600-38646200	Weak transcription	Colonic Mucosa	Colon
9	chr17:38638800-38646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:38640800-38646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:38641000-38646600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:38641000-38648800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:38641200-38646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:38641200-38646400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:38641400-38646200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38642000-38647000	Enhancers	Colon Smooth Muscle	Colon
17	chr17:38642000-38647800	Enhancers	Fetal Stomach	stomach
18	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:38642800-38645600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:38642800-38646000	Enhancers	Primary T cells from cord blood	blood
21	chr17:38642800-38646600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:38643000-38645800	Genic enhancers	Esophagus	oesophagus
23	chr17:38643000-38647000	Weak transcription	Fetal Kidney	kidney
24	chr17:38643000-38654200	Weak transcription	Stomach Mucosa	stomach
25	chr17:38643200-38646400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:38643200-38646600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:38643200-38647000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:38643400-38646200	Weak transcription	HepG2	liver
29	chr17:38643400-38646200	Weak transcription	K562	blood
30	chr17:38643400-38648200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38643600-38646200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:38643600-38646400	Weak transcription	Adipose Nuclei	Adipose
33	chr17:38643800-38646200	Weak transcription	NH-A	brain
34	chr17:38643800-38656000	Weak transcription	Right Atrium	heart
35	chr17:38644000-38646400	Genic enhancers	Hela-S3	cervix
36	chr17:38644000-38648600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:38644200-38646000	Weak transcription	Brain Substantia Nigra	brain
38	chr17:38644200-38646200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:38644200-38646200	Genic enhancers	A549	lung
40	chr17:38644200-38646400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:38644200-38648400	Enhancers	Fetal Thymus	thymus
42	chr17:38644400-38646000	Weak transcription	Osteobl	bone
43	chr17:38644400-38646200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:38644400-38646200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:38644400-38646200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr17:38644400-38646200	Weak transcription	Pancreas	Pancrea
47	chr17:38644400-38646200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:38644400-38646200	Weak transcription	HSMMtube	muscle
49	chr17:38644400-38646200	Weak transcription	NHDF-Ad	bronchial
50	chr17:38644400-38646200	Weak transcription	NHLF	lung

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