Variant report

Variant	rs7715183
Chromosome Location	chr5:96286018-96286019
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96284801..96287176-chr5:96287402..96289918,2	K562	blood:
2	chr5:96270110..96272375-chr5:96284966..96288783,4	MCF-7	breast:
3	chr5:96284375..96286567-chr5:96287719..96289798,2	MCF-7	breast:
4	chr5:96285264..96287283-chr5:96291106..96292923,2	K562	blood:
5	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
6	chr5:96271163..96274552-chr5:96284400..96287788,3	K562	blood:
7	chr5:96273987..96276644-chr5:96284766..96287407,2	MCF-7	breast:
8	chr5:96284878..96287176-chr5:96288100..96289918,2	K562	blood:
9	chr5:96275482..96277612-chr5:96285437..96288084,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60561288	1.00[AMR][1000 genomes]
rs60603456	0.87[AFR][1000 genomes]
rs60878093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135403	1.00[AMR][1000 genomes]
rs73150385	1.00[AMR][1000 genomes]
rs73152130	1.00[AMR][1000 genomes]
rs73152143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152158	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73152163	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
2	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
3	chr5:96273400-96292800	Weak transcription	K562	blood
4	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
6	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:96274400-96288200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:96274600-96287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:96274600-96288000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:96274600-96288800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:96274600-96298400	Weak transcription	HSMM	muscle
13	chr5:96274800-96288400	Weak transcription	HepG2	liver
14	chr5:96276000-96288000	Weak transcription	Fetal Heart	heart
15	chr5:96276600-96288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:96277000-96288400	Weak transcription	Psoas Muscle	Psoas
17	chr5:96277800-96303800	Weak transcription	Pancreas	Pancrea
18	chr5:96278000-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:96278200-96292400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:96279000-96286600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:96279000-96290400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:96279800-96288000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:96279800-96298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:96279800-96303800	Weak transcription	Esophagus	oesophagus
26	chr5:96282000-96292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:96282200-96288000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:96282200-96288000	Weak transcription	Small Intestine	intestine
29	chr5:96282200-96292800	Weak transcription	NHLF	lung
30	chr5:96282200-96303800	Weak transcription	Spleen	Spleen
31	chr5:96282400-96288200	Weak transcription	NHEK	skin
32	chr5:96282400-96288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:96283400-96288400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:96283400-96296600	Weak transcription	NHDF-Ad	bronchial
35	chr5:96284200-96286200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:96284200-96286400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:96284600-96286800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:96284800-96286200	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr5:96284800-96290200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:96285000-96286800	Enhancers	Primary T cells from cord blood	blood
41	chr5:96285200-96287000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:96285200-96288200	Weak transcription	Left Ventricle	heart
43	chr5:96285200-96292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:96285400-96286400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:96285400-96288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:96285400-96288800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:96285400-96291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:96285400-96292000	Weak transcription	Fetal Thymus	thymus
49	chr5:96285400-96293000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:96285400-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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