Variant report

Variant	rs187313852
Chromosome Location	chr8:100027216-100027217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr8:100027146-100027245	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:99677331..99680175-chr8:100027131..100030033,2	K562	blood:
4	chr8:100027143..100028710-chr8:100248941..100251194,2	MCF-7	breast:
5	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
6	chr8:100011149..100013712-chr8:100025594..100027308,2	K562	blood:
7	chr8:100025833..100028756-chr8:100100624..100103335,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253948	TF binding region
ENSG00000104375	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000164920	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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3384926	chr8:100026040-100027833	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:100026200-100035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:100026200-100036800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:100026200-100044000	Weak transcription	Esophagus	oesophagus
5	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:100026200-100047000	Weak transcription	Gastric	stomach
7	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
8	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:100026400-100027400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:100026400-100027400	Enhancers	Primary B cells from cord blood	blood
11	chr8:100026400-100027400	Enhancers	Primary T cells from cord blood	blood
12	chr8:100026400-100027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:100026400-100027600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:100026400-100027800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:100026400-100028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:100026400-100028000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:100026400-100028200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:100026400-100028200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:100026400-100029200	Weak transcription	Placenta	Placenta
20	chr8:100026400-100029400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:100026400-100030000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:100026400-100030800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:100026400-100031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:100026400-100033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:100026400-100036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:100026400-100036200	Weak transcription	Psoas Muscle	Psoas
27	chr8:100026400-100036400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:100026400-100036400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:100026400-100036400	Weak transcription	Thymus	Thymus
30	chr8:100026400-100036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:100026400-100037400	Weak transcription	Stomach Mucosa	stomach
32	chr8:100026400-100039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:100026400-100040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:100026400-100044000	Weak transcription	Aorta	Aorta
35	chr8:100026400-100046200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:100026600-100027400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:100026600-100030400	Weak transcription	Pancreas	Pancrea
38	chr8:100026600-100031800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:100026600-100038600	Weak transcription	Left Ventricle	heart
40	chr8:100026600-100043800	Weak transcription	Spleen	Spleen
41	chr8:100026600-100047000	Weak transcription	Lung	lung
42	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:100026800-100028000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:100026800-100028000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:100026800-100028200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:100026800-100031400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:100026800-100031600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:100026800-100031800	Weak transcription	Fetal Heart	heart
49	chr8:100026800-100035600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:100027000-100027400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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