Variant report

Variant	rs533462011
Chromosome Location	chr17:16389550-16389551
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16388573..16391176-chr17:16394299..16396980,2	K562	blood:
2	chr17:16374663..16376189-chr17:16388387..16389969,2	MCF-7	breast:
3	chr17:16281117..16284005-chr17:16388491..16391199,2	MCF-7	breast:
4	chr17:16371050..16373790-chr17:16387962..16391461,3	MCF-7	breast:
5	chr17:16366570..16369549-chr17:16387763..16390396,2	MCF-7	breast:
6	chr17:16379752..16382103-chr17:16386990..16389784,2	MCF-7	breast:
7	chr17:16387996..16389898-chr17:16398901..16401613,2	MCF-7	breast:
8	chr17:16388461..16390561-chr17:16439173..16440871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181350	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16375200-16390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:16381000-16390000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:16381200-16392600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:16381400-16389600	Weak transcription	A549	lung
5	chr17:16385800-16392200	Genic enhancers	Fetal Intestine Small	intestine
6	chr17:16386000-16389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:16386200-16392600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:16387400-16390400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:16387600-16390600	Flanking Active TSS	Fetal Brain Female	brain
10	chr17:16387600-16390800	Enhancers	Fetal Brain Male	brain
11	chr17:16387600-16392800	Enhancers	Fetal Lung	lung
12	chr17:16387600-16393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:16387600-16393000	Enhancers	Placenta	Placenta
14	chr17:16387800-16389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:16387800-16389600	Enhancers	HSMMtube	muscle
16	chr17:16387800-16390600	Enhancers	Brain Substantia Nigra	brain
17	chr17:16387800-16392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:16387800-16392600	Enhancers	Fetal Heart	heart
19	chr17:16387800-16393000	Enhancers	Ovary	ovary
20	chr17:16388000-16390600	Enhancers	Fetal Stomach	stomach
21	chr17:16388200-16389600	Enhancers	Brain Anterior Caudate	brain
22	chr17:16388200-16389600	Enhancers	Colon Smooth Muscle	Colon
23	chr17:16388200-16389800	Enhancers	Fetal Muscle Leg	muscle
24	chr17:16388200-16390000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:16388200-16390000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:16388200-16390200	Weak transcription	K562	blood
27	chr17:16388200-16390400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr17:16388200-16391000	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:16388200-16392200	Enhancers	Spleen	Spleen
30	chr17:16388200-16392600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr17:16388200-16392800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr17:16388400-16389600	Enhancers	NHLF	lung
33	chr17:16388400-16390000	Enhancers	Brain Cingulate Gyrus	brain
34	chr17:16388400-16391200	Enhancers	Stomach Mucosa	stomach
35	chr17:16388400-16392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr17:16388400-16392800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:16388600-16390000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr17:16388600-16390600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr17:16388600-16390600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr17:16388600-16392400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:16388800-16389600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr17:16388800-16389600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr17:16388800-16389800	Enhancers	NHDF-Ad	bronchial
44	chr17:16388800-16392400	Enhancers	Gastric	stomach
45	chr17:16389000-16389600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:16389000-16389600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:16389000-16389600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:16389000-16389600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:16389000-16389600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:16389000-16389600	Enhancers	Small Intestine	intestine

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