Variant report

Variant	rs3797797
Chromosome Location	chr5:96316470-96316471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96298441..96300978-chr5:96314923..96316670,2	K562	blood:
2	chr5:96311603..96314325-chr5:96315419..96317692,2	K562	blood:

Variant related genes	Relation type
ENSG00000200884	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491385	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10491386	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10515253	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1057808	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12656253	0.93[ASN][1000 genomes]
rs12657704	0.93[ASN][1000 genomes]
rs17407513	1.00[AFR][1000 genomes]
rs17407871	1.00[AFR][1000 genomes]
rs17407899	1.00[AFR][1000 genomes]
rs17408150	1.00[AFR][1000 genomes]
rs17409040	1.00[AFR][1000 genomes]
rs17446635	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446755	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446769	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446837	0.81[EUR][1000 genomes]
rs17446907	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446949	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17486181	1.00[AFR][1000 genomes]
rs17486481	1.00[AFR][1000 genomes]
rs17486509	1.00[AFR][1000 genomes]
rs17486775	1.00[AFR][1000 genomes]
rs17486915	1.00[AFR][1000 genomes]
rs17487132	1.00[AFR][1000 genomes]
rs17487596	1.00[AFR][1000 genomes]
rs17531068	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531164	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531192	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531213	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17531366	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17628359	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17684739	1.00[AFR][1000 genomes]
rs2194245	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2287902	0.93[ASN][1000 genomes]
rs2303210	0.81[ASN][1000 genomes]
rs3797795	0.93[ASN][1000 genomes]
rs3797798	1.00[ASN][1000 genomes]
rs3797850	0.88[ASN][1000 genomes]
rs41276275	1.00[AFR][1000 genomes]
rs41276279	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55658367	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55746248	1.00[AFR][1000 genomes]
rs55767008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55769558	1.00[AFR][1000 genomes]
rs55870170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002769	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56003936	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56009267	1.00[AFR][1000 genomes]
rs56071818	1.00[AFR][1000 genomes]
rs56078010	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58748938	0.88[ASN][1000 genomes]
rs60280354	0.88[ASN][1000 genomes]
rs73141135	0.88[ASN][1000 genomes]
rs7728347	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
2	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
3	chr5:96304800-96346600	Weak transcription	Lung	lung
4	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
5	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:96313200-96325400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96313200-96330000	Weak transcription	HSMMtube	muscle
8	chr5:96313400-96317400	Weak transcription	Fetal Heart	heart
9	chr5:96313400-96317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:96313600-96317800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:96314000-96318000	Strong transcription	Primary T cells from cord blood	blood
14	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
15	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
17	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
18	chr5:96314400-96318000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:96314400-96318000	Strong transcription	Fetal Intestine Large	intestine
20	chr5:96314400-96319200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:96314400-96319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:96314400-96343800	Strong transcription	Dnd41	blood
23	chr5:96314600-96318200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:96314600-96319000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:96314800-96316600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:96314800-96316600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:96314800-96316600	Strong transcription	Liver	Liver
28	chr5:96314800-96316800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:96314800-96317400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:96314800-96317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:96314800-96317800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:96314800-96318200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:96314800-96319800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:96315000-96316600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:96315000-96316600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:96315000-96316600	Strong transcription	Fetal Lung	lung
39	chr5:96315000-96316600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr5:96315000-96317800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:96315000-96318000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:96315000-96318000	Strong transcription	Adipose Nuclei	Adipose
43	chr5:96315000-96318000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:96315000-96318200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:96315000-96318400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
47	chr5:96315200-96316800	Strong transcription	Osteobl	bone
48	chr5:96315400-96320800	Weak transcription	Small Intestine	intestine
49	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:96315600-96316600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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