Variant report

Variant	rs113996999
Chromosome Location	chr8:8561895-8561896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8560907..8563057-chr8:8567449..8569715,2	MCF-7	breast:
2	chr8:8556386..8558383-chr8:8560900..8563538,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1028237	chr8:8532992-8588470	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3425765	chr8:8559367-8561915	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1022670	chr8:8561196-8613387	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8558400-8562800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:8559200-8562000	Bivalent/Poised TSS	Fetal Stomach	stomach
3	chr8:8560000-8562000	Weak transcription	Fetal Lung	lung
4	chr8:8560000-8562600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:8560000-8563600	Enhancers	GM12878-XiMat	blood
6	chr8:8560000-8563600	Weak transcription	Hela-S3	cervix
7	chr8:8560200-8562000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:8560200-8562200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:8560200-8562600	Weak transcription	NHLF	lung
10	chr8:8560400-8562000	Enhancers	Adipose Nuclei	Adipose
11	chr8:8560400-8562200	Active TSS	Duodenum Mucosa	Duodenum
12	chr8:8560400-8563000	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr8:8560400-8564400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:8560600-8562000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:8560600-8562600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:8560800-8562200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:8560800-8562200	Enhancers	Liver	Liver
18	chr8:8560800-8562400	Active TSS	Gastric	stomach
19	chr8:8560800-8562600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:8560800-8563000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:8560800-8563600	Weak transcription	Esophagus	oesophagus
22	chr8:8561000-8562000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:8561000-8562800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:8561000-8562800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8561000-8563400	Weak transcription	Placenta	Placenta
26	chr8:8561000-8563800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:8561200-8562200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:8561200-8562800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:8561200-8562800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:8561600-8562000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:8561600-8562000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:8561600-8562000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:8561600-8562600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:8561800-8562000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:8561800-8562000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:8561800-8562000	Bivalent Enhancer	Fetal Thymus	thymus
37	chr8:8561800-8562000	Active TSS	Stomach Mucosa	stomach
38	chr8:8561800-8562200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:8561800-8562200	Active TSS	Rectal Smooth Muscle	rectum
40	chr8:8561800-8562600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:8561800-8562600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:8561800-8562600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:8561800-8562600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr8:8561800-8562800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:8561800-8562800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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