Variant report

Variant	rs543347731
Chromosome Location	chr17:15870620-15870621
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	chr17:15869541..15871982-chr17:15871991..15874515,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	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
10	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15866400-15871800	Enhancers	NH-A	brain
2	chr17:15866600-15871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:15867400-15878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:15868400-15871400	Enhancers	Hela-S3	cervix
5	chr17:15868400-15871400	Enhancers	NHDF-Ad	bronchial
6	chr17:15868400-15871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:15868600-15870800	Enhancers	Esophagus	oesophagus
8	chr17:15868600-15871200	Enhancers	Fetal Thymus	thymus
9	chr17:15868600-15871400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr17:15868600-15871600	Enhancers	Dnd41	blood
11	chr17:15868600-15871800	Enhancers	Primary hematopoietic stem cells	blood
12	chr17:15868600-15872000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:15868600-15872000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:15868600-15872200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:15868600-15872400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15868600-15872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:15868600-15872400	Enhancers	K562	blood
18	chr17:15868800-15870800	Enhancers	Placenta	Placenta
19	chr17:15868800-15871400	Enhancers	Fetal Muscle Leg	muscle
20	chr17:15868800-15880000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:15869000-15870800	Enhancers	Fetal Intestine Large	intestine
22	chr17:15869000-15875800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:15869200-15871600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:15869400-15871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:15869400-15871800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:15869600-15870800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:15869600-15870800	Enhancers	Primary B cells from cord blood	blood
28	chr17:15869600-15870800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:15869600-15871000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr17:15869600-15871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:15869600-15871000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr17:15869600-15871400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr17:15869800-15870800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:15869800-15870800	Enhancers	Brain Hippocampus Middle	brain
35	chr17:15869800-15870800	Enhancers	Lung	lung
36	chr17:15869800-15871000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:15869800-15871000	Enhancers	Fetal Intestine Small	intestine
38	chr17:15869800-15871200	Enhancers	Spleen	Spleen
39	chr17:15869800-15872200	Enhancers	Liver	Liver
40	chr17:15870000-15871200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:15870200-15870800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:15870200-15871000	Genic enhancers	NHEK	skin
43	chr17:15870200-15871200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:15870200-15871200	Enhancers	Primary T cells from cord blood	blood
45	chr17:15870200-15871200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:15870200-15871200	Enhancers	HUVEC	blood vessel
47	chr17:15870200-15871400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:15870200-15871600	Enhancers	Thymus	Thymus
49	chr17:15870200-15871800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr17:15870200-15872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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