Variant report

Variant	rs16913878
Chromosome Location	chr8:86378134-86378135
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
2	GATA1	chr8:86377869-86378596	PBDE	blood:	n/a	chr8:86378403-86378424 chr8:86378096-86378103

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	TF binding region
ENSG00000253154	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10098816	1.00[JPT][hapmap]
rs7002221	1.00[JPT][hapmap]
rs73267582	0.82[EUR][1000 genomes]
rs7813184	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7833798	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:86375400-86378600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:86375400-86378800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:86375400-86380000	Active TSS	Brain Anterior Caudate	brain
5	chr8:86375400-86380000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:86375400-86380000	Active TSS	Brain Hippocampus Middle	brain
7	chr8:86375400-86380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:86375400-86380600	Active TSS	Colonic Mucosa	Colon
9	chr8:86375400-86381000	Active TSS	Brain Angular Gyrus	brain
10	chr8:86375600-86380200	Active TSS	Gastric	stomach
11	chr8:86376400-86380600	Active TSS	Stomach Mucosa	stomach
12	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:86377200-86378200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr8:86377200-86378400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:86377200-86381000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:86377400-86378200	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
17	chr8:86377600-86378200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:86377600-86378200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:86377600-86379400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:86377600-86380000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr8:86377600-86380200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:86377600-86380600	Active TSS	Fetal Stomach	stomach
23	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
24	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
25	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
27	chr8:86377800-86378200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:86377800-86378200	Active TSS	Brain Germinal Matrix	brain
29	chr8:86377800-86378200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:86377800-86378600	Active TSS	Duodenum Mucosa	Duodenum
31	chr8:86377800-86378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:86377800-86379000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:86377800-86379400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:86377800-86379600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:86377800-86380000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:86377800-86380000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:86377800-86380000	Weak transcription	Small Intestine	intestine
38	chr8:86377800-86380200	Active TSS	Fetal Kidney	kidney
39	chr8:86377800-86380200	Weak transcription	Left Ventricle	heart
40	chr8:86377800-86380400	Weak transcription	Fetal Intestine Small	intestine
41	chr8:86377800-86381800	Enhancers	Liver	Liver
42	chr8:86377800-86388200	Weak transcription	Adipose Nuclei	Adipose
43	chr8:86377800-86388400	Weak transcription	Lung	lung
44	chr8:86377800-86390200	Weak transcription	HMEC	breast
45	chr8:86378000-86378200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr8:86378000-86378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:86378000-86378200	Active TSS	NHEK	skin
48	chr8:86378000-86378400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:86378000-86378600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:86378000-86380200	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links