Variant report

Variant	rs3744806
Chromosome Location	chr17:38351626-38351627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38350624..38352152-chr17:38445589..38447387,2	K562	blood:
2	chr17:38349826..38352534-chr17:38443778..38445616,2	K562	blood:
3	chr17:38351055..38353066-chr17:38461738..38464698,2	K562	blood:
4	chr17:38343845..38346711-chr17:38349005..38352130,3	K562	blood:
5	chr17:38348399..38350901-chr17:38351389..38353492,2	MCF-7	breast:
6	chr17:38349831..38351927-chr17:38352533..38355067,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108352	Chromatin interaction
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11078940	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12103921	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12944717	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16965666	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs16965687	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2280400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2314338	0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs28537537	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs28663197	0.81[ASN][1000 genomes]
rs34223321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077125	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs45567834	1.00[ASN][1000 genomes]
rs4566234	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs55772196	0.99[ASN][1000 genomes]
rs55835834	0.88[ASN][1000 genomes]
rs55991953	0.97[ASN][1000 genomes]
rs56013073	0.98[ASN][1000 genomes]
rs56029626	0.91[ASN][1000 genomes]
rs59018914	0.88[ASN][1000 genomes]
rs59861136	0.91[ASN][1000 genomes]
rs61024420	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6503537	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6503539	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs67597966	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7211770	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs72836633	0.97[ASN][1000 genomes]
rs72836634	0.94[ASN][1000 genomes]
rs72836635	0.94[ASN][1000 genomes]
rs72836636	0.91[ASN][1000 genomes]
rs72836639	0.90[ASN][1000 genomes]
rs72836640	0.89[ASN][1000 genomes]
rs72836641	0.89[ASN][1000 genomes]
rs72836642	0.84[ASN][1000 genomes]
rs72836648	0.82[ASN][1000 genomes]
rs7359537	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7405635	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8066144	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs8073925	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8082192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891718	0.81[ASN][1000 genomes]
rs9892404	0.82[ASN][1000 genomes]
rs9892946	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs9892973	0.98[ASN][1000 genomes]
rs9893520	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9895163	0.81[ASN][1000 genomes]
rs9897092	0.81[ASN][1000 genomes]
rs9901109	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9904021	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs9906409	0.82[ASN][1000 genomes]
rs9907683	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9908034	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9908257	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs9908354	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911840	0.82[ASN][1000 genomes]
rs9912082	0.83[ASN][1000 genomes]
rs9916460	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9916782	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38348000-38353400	Weak transcription	Aorta	Aorta
2	chr17:38348200-38353200	Weak transcription	Thymus	Thymus
3	chr17:38348400-38352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:38348400-38352000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:38348400-38352200	Weak transcription	Brain Substantia Nigra	brain
6	chr17:38348400-38354600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:38348400-38358200	Weak transcription	Adipose Nuclei	Adipose
8	chr17:38348400-38358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:38348600-38358200	Weak transcription	HUVEC	blood vessel
10	chr17:38348600-38358200	Weak transcription	Osteobl	bone
11	chr17:38349800-38352400	Enhancers	Fetal Muscle Trunk	muscle
12	chr17:38350000-38357400	Weak transcription	Placenta	Placenta
13	chr17:38350200-38352000	Enhancers	HSMM	muscle
14	chr17:38350200-38352400	Enhancers	Stomach Mucosa	stomach
15	chr17:38350200-38352400	Enhancers	HepG2	liver
16	chr17:38350200-38352600	Enhancers	HSMMtube	muscle
17	chr17:38350200-38354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:38350200-38359400	Weak transcription	Colonic Mucosa	Colon
19	chr17:38350400-38351800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:38350400-38351800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:38350400-38352200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:38350400-38352400	Enhancers	Fetal Muscle Leg	muscle
23	chr17:38350400-38358000	Weak transcription	Liver	Liver
24	chr17:38350400-38358200	Weak transcription	Brain Hippocampus Middle	brain
25	chr17:38350400-38358200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr17:38350400-38358600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:38350600-38351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:38350600-38351800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr17:38350600-38352000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:38350600-38352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:38350600-38352800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:38350800-38352000	Enhancers	Fetal Stomach	stomach
33	chr17:38350800-38352400	Weak transcription	Gastric	stomach
34	chr17:38350800-38359400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:38350800-38359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:38351000-38351800	Enhancers	Fetal Brain Male	brain
37	chr17:38351000-38351800	Enhancers	Fetal Brain Female	brain
38	chr17:38351000-38351800	Enhancers	Spleen	Spleen
39	chr17:38351200-38351800	Enhancers	Fetal Intestine Large	intestine
40	chr17:38351200-38351800	Enhancers	Fetal Intestine Small	intestine
41	chr17:38351400-38351800	Enhancers	Esophagus	oesophagus
42	chr17:38351400-38354600	Weak transcription	A549	lung
43	chr17:38351600-38351800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:38351600-38351800	Enhancers	Brain Angular Gyrus	brain
45	chr17:38351600-38351800	Enhancers	Left Ventricle	heart
46	chr17:38351600-38351800	Enhancers	Right Ventricle	heart

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