Variant report

Variant	rs72690438
Chromosome Location	chr8:87529308-87529309
allele	C/T
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	chr8:87529267-87529396	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87519549..87521500-chr8:87528535..87531458,3	K562	blood:
2	chr8:87528642..87530969-chr8:87544155..87546227,2	K562	blood:
3	chr8:87519972..87522563-chr8:87528535..87531475,3	K562	blood:
4	chr8:87522945..87528128-chr8:87528640..87532545,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17609487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17609515	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17682647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119537	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72688597	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688599	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688600	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688602	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690405	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690409	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690411	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690412	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690413	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690414	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690415	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690421	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690423	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690427	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690429	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690431	0.93[EUR][1000 genomes]
rs72690432	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690467	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690468	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690469	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690475	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690477	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87530400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:87527600-87530600	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:87527600-87534600	Weak transcription	Placenta	Placenta
5	chr8:87527600-87534800	Weak transcription	HSMM	muscle
6	chr8:87527600-87535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:87527600-87539400	Weak transcription	Lung	lung
8	chr8:87527600-87542400	Weak transcription	Esophagus	oesophagus
9	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
10	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
11	chr8:87527600-87568200	Weak transcription	Gastric	stomach
12	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:87527800-87529400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:87527800-87535400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:87527800-87541600	Weak transcription	Ovary	ovary
16	chr8:87527800-87542600	Weak transcription	A549	lung
17	chr8:87527800-87543400	Weak transcription	K562	blood
18	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
22	chr8:87528000-87530000	Weak transcription	Osteobl	bone
23	chr8:87528000-87530400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:87528000-87534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:87528000-87534800	Weak transcription	Liver	Liver
26	chr8:87528000-87535000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:87528000-87535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:87528000-87539200	Weak transcription	Brain Germinal Matrix	brain
29	chr8:87528000-87541600	Weak transcription	Fetal Brain Female	brain
30	chr8:87528000-87543200	Weak transcription	Fetal Kidney	kidney
31	chr8:87528000-87543200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
33	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
34	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
35	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
36	chr8:87528200-87529600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:87528200-87529600	Weak transcription	NHDF-Ad	bronchial
38	chr8:87528200-87529800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:87528200-87530000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:87528200-87530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:87528200-87531800	Weak transcription	Fetal Intestine Small	intestine
42	chr8:87528200-87534200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:87528200-87534200	Weak transcription	HMEC	breast
44	chr8:87528200-87534400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:87528200-87534400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:87528200-87534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:87528200-87534600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:87528200-87534800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:87528200-87534800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:87528200-87534800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links