Variant report

Variant	rs7215443
Chromosome Location	chr17:16391226-16391227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16284234..16285917-chr17:16391089..16393205,2	MCF-7	breast:
2	chr17:16371050..16373790-chr17:16387962..16391461,3	MCF-7	breast:
3	chr17:16386326..16389299-chr17:16390889..16393298,2	K562	blood:

Variant related genes	Relation type
ENSG00000170315	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57540884	1.00[AMR][1000 genomes]
rs57939654	1.00[AMR][1000 genomes]
rs7224408	1.00[AMR][1000 genomes]
rs73287076	1.00[AMR][1000 genomes]
rs73287082	1.00[AMR][1000 genomes]
rs73287088	1.00[AMR][1000 genomes]
rs73287090	1.00[AMR][1000 genomes]
rs8068968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8075170	1.00[AMR][1000 genomes]
rs8079037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv574487	chr17:16389498-16395496	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1794587	chr17:16389498-16395680	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16381200-16392600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:16385800-16392200	Genic enhancers	Fetal Intestine Small	intestine
3	chr17:16386200-16392600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:16387600-16392800	Enhancers	Fetal Lung	lung
5	chr17:16387600-16393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:16387600-16393000	Enhancers	Placenta	Placenta
7	chr17:16387800-16392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:16387800-16392600	Enhancers	Fetal Heart	heart
9	chr17:16387800-16393000	Enhancers	Ovary	ovary
10	chr17:16388200-16392200	Enhancers	Spleen	Spleen
11	chr17:16388200-16392600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr17:16388200-16392800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr17:16388400-16392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:16388400-16392800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:16388600-16392400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr17:16388800-16392400	Enhancers	Gastric	stomach
17	chr17:16389000-16392800	Enhancers	Pancreas	Pancrea
18	chr17:16389200-16392000	Genic enhancers	Fetal Intestine Large	intestine
19	chr17:16389200-16392400	Enhancers	Right Atrium	heart
20	chr17:16389200-16392600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr17:16389600-16392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:16389800-16394200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:16390200-16392000	Weak transcription	Fetal Kidney	kidney
24	chr17:16390200-16392400	Enhancers	HUVEC	blood vessel
25	chr17:16390200-16392400	Enhancers	K562	blood
26	chr17:16390200-16392800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr17:16390200-16393400	Enhancers	Fetal Muscle Leg	muscle
28	chr17:16390400-16391400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:16390400-16391400	Weak transcription	NHLF	lung
30	chr17:16390400-16391600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:16390400-16391600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:16390400-16391600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:16390400-16391600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:16390400-16391800	Weak transcription	Fetal Thymus	thymus
35	chr17:16390400-16392000	Enhancers	Colonic Mucosa	Colon
36	chr17:16390400-16392200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr17:16390400-16392200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:16390400-16392200	Weak transcription	Brain Anterior Caudate	brain
39	chr17:16390400-16392200	Weak transcription	A549	lung
40	chr17:16390400-16392400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr17:16390400-16392600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr17:16390400-16392600	Enhancers	Hela-S3	cervix
43	chr17:16390400-16392800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr17:16390400-16392800	Enhancers	HSMMtube	muscle
45	chr17:16390400-16393000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:16390400-16393800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:16390400-16394200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:16390400-16394200	Enhancers	Brain Germinal Matrix	brain
49	chr17:16390400-16394200	Weak transcription	Esophagus	oesophagus
50	chr17:16390400-16394400	Weak transcription	Liver	Liver

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