Variant report

Variant	rs17087122
Chromosome Location	chr5:96213470-96213471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:96212888-96213530	PBDE	blood:	n/a	chr5:96213076-96213092 chr5:96213076-96213092 chr5:96213483-96213495 chr5:96213073-96213094
2	MYC	chr5:96213396-96213508	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
2	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
3	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
4	chr5:96212214..96214084-chr5:96217203..96219457,3	K562	blood:
5	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
6	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
7	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	TF binding region
ERAP2	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10515251	1.00[ASN][1000 genomes]
rs10515252	1.00[ASN][1000 genomes]
rs17082231	1.00[EUR][1000 genomes]
rs17087080	1.00[ASN][1000 genomes]
rs17087082	1.00[ASN][1000 genomes]
rs17087083	1.00[EUR][1000 genomes]
rs17087085	1.00[ASN][1000 genomes]
rs17087092	1.00[ASN][1000 genomes]
rs17087104	1.00[EUR][1000 genomes]
rs17087112	1.00[ASN][1000 genomes]
rs17087114	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087119	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55758036	1.00[ASN][1000 genomes]
rs56035075	1.00[ASN][1000 genomes]
rs56058457	1.00[ASN][1000 genomes]
rs6861666	1.00[ASN][1000 genomes]
rs6866020	1.00[ASN][1000 genomes]
rs6873990	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3342679	chr5:96213254-96213770	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211400-96213800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr5:96211600-96213600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:96212000-96213600	Active TSS	Primary T cells fromperipheralblood	blood
5	chr5:96212000-96213600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:96212000-96213800	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr5:96212000-96213800	Active TSS	Thymus	Thymus
8	chr5:96212000-96214000	Active TSS	GM12878-XiMat	blood
9	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:96212600-96213800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr5:96212600-96215400	Weak transcription	Spleen	Spleen
13	chr5:96212600-96215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:96212600-96217000	Weak transcription	Gastric	stomach
15	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
16	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:96212800-96213600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr5:96212800-96213800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr5:96212800-96215400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
22	chr5:96213000-96213600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:96213000-96213600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:96213000-96213600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:96213000-96213600	Flanking Active TSS	HUVEC	blood vessel
26	chr5:96213000-96213800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr5:96213000-96213800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:96213000-96213800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:96213000-96214000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:96213000-96214200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:96213000-96214200	Weak transcription	Esophagus	oesophagus
32	chr5:96213000-96214400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr5:96213000-96214400	Flanking Active TSS	Dnd41	blood
34	chr5:96213000-96215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:96213000-96215400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:96213000-96215400	Weak transcription	Left Ventricle	heart
37	chr5:96213000-96216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:96213000-96217000	Weak transcription	Lung	lung
39	chr5:96213000-96217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
41	chr5:96213200-96213600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:96213200-96213600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:96213200-96213600	Flanking Active TSS	NHEK	skin
44	chr5:96213200-96213800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:96213200-96213800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:96213200-96213800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:96213200-96214200	Weak transcription	Small Intestine	intestine
48	chr5:96213200-96214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:96213200-96214400	Enhancers	Fetal Intestine Large	intestine
50	chr5:96213200-96215200	Weak transcription	Stomach Mucosa	stomach

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