Variant report

Variant	rs570804786
Chromosome Location	chr18:13136670-13136671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:
2	chr18:13134910..13136836-chr18:13149613..13152006,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3388823	chr18:13135977-13138825	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
2	chr18:13127600-13136800	Weak transcription	Aorta	Aorta
3	chr18:13130400-13136800	Weak transcription	A549	lung
4	chr18:13135600-13136800	Flanking Active TSS	Dnd41	blood
5	chr18:13135800-13136800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr18:13135800-13136800	Enhancers	Fetal Brain Male	brain
7	chr18:13135800-13137200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr18:13135800-13138600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:13135800-13138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:13136000-13136800	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr18:13136000-13137000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr18:13136000-13137200	Active TSS	Brain Hippocampus Middle	brain
13	chr18:13136200-13136800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr18:13136200-13136800	Flanking Active TSS	GM12878-XiMat	blood
15	chr18:13136200-13137000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr18:13136200-13137000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr18:13136200-13137000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr18:13136200-13137200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr18:13136200-13137400	Transcr. at gene 5' and 3'	Thymus	Thymus
20	chr18:13136200-13137600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr18:13136200-13137800	Flanking Active TSS	Colonic Mucosa	Colon
22	chr18:13136200-13138200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr18:13136200-13138400	Active TSS	Liver	Liver
24	chr18:13136200-13138800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr18:13136400-13136800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr18:13136400-13136800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:13136400-13136800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr18:13136400-13136800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr18:13136400-13137000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr18:13136400-13137000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr18:13136400-13137000	Flanking Active TSS	NH-A	brain
32	chr18:13136400-13137000	Bivalent/Poised TSS	NHEK	skin
33	chr18:13136400-13137200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr18:13136400-13137400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:13136400-13137400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr18:13136400-13137400	Weak transcription	Fetal Heart	heart
37	chr18:13136400-13137400	Active TSS	Osteobl	bone
38	chr18:13136400-13137600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:13136400-13137600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr18:13136400-13137600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:13136400-13137600	Active TSS	Primary T cells from cord blood	blood
42	chr18:13136400-13137600	Active TSS	Esophagus	oesophagus
43	chr18:13136400-13137800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr18:13136400-13137800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:13136400-13137800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr18:13136400-13137800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr18:13136400-13137800	Active TSS	Fetal Brain Female	brain
48	chr18:13136400-13138000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr18:13136400-13138000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr18:13136400-13138000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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