Variant report

Variant	rs7008292
Chromosome Location	chr8:59509715-59509716
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	MAFK	chr8:59509706-59509910	Hela-S3	cervix:	n/a	chr8:59509776-59509791
2	MAFK	chr8:59509628-59509924	IMR90	lung:	n/a	chr8:59509776-59509791
3	RUNX3	chr8:59509439-59509851	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:59509688-59509730	GM12878	blood:	n/a	n/a
5	MAFK	chr8:59509621-59509947	HepG2	liver:	n/a	chr8:59509776-59509791
6	MAFF	chr8:59509650-59509922	HepG2	liver:	n/a	n/a
7	MAFK	chr8:59509634-59509920	HepG2	liver:	n/a	chr8:59509776-59509791
8	MAFK	chr8:59509668-59509935	K562	blood:	n/a	chr8:59509776-59509791

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59508283..59510200-chr8:59512626..59515081,2	MCF-7	breast:
2	chr8:59507125..59509829-chr8:59569234..59572145,2	MCF-7	breast:

Variant related genes	Relation type
NSMAF	TF binding region
ENSG00000035681	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11995355	0.93[EUR][1000 genomes]
rs17204866	0.93[EUR][1000 genomes]
rs17264556	0.93[EUR][1000 genomes]
rs17264577	0.93[EUR][1000 genomes]
rs4574832	0.93[EUR][1000 genomes]
rs55909077	0.93[AMR][1000 genomes]
rs59269342	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59483800-59528000	Strong transcription	Dnd41	blood
6	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:59498600-59511200	Weak transcription	Right Ventricle	heart
8	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
10	chr8:59500200-59524600	Weak transcription	HepG2	liver
11	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
12	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:59502000-59512800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
15	chr8:59504400-59510200	Strong transcription	Primary T cells from cord blood	blood
16	chr8:59505200-59510200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:59505200-59513000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr8:59505400-59513000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:59505600-59511000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:59505600-59512800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:59505800-59510200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:59506000-59510800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:59506000-59513000	Strong transcription	Fetal Lung	lung
24	chr8:59506000-59516800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:59506200-59510200	Strong transcription	Brain Angular Gyrus	brain
26	chr8:59506200-59512000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:59506400-59509800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:59506400-59510400	Strong transcription	Thymus	Thymus
29	chr8:59506400-59513000	Strong transcription	Fetal Stomach	stomach
30	chr8:59506600-59510200	Strong transcription	Lung	lung
31	chr8:59506600-59510400	Strong transcription	Left Ventricle	heart
32	chr8:59506600-59512800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr8:59507000-59510200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:59507200-59509800	Genic enhancers	K562	blood
35	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:59507600-59521800	Weak transcription	Spleen	Spleen
37	chr8:59507600-59524800	Weak transcription	Fetal Kidney	kidney
38	chr8:59507600-59525200	Weak transcription	Ovary	ovary
39	chr8:59507600-59545400	Weak transcription	Gastric	stomach
40	chr8:59507800-59509800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:59507800-59514000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:59508000-59510200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:59508000-59510200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:59508000-59510400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:59508000-59511200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:59508000-59515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:59508000-59521000	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:59508000-59523400	Weak transcription	Pancreas	Pancrea
49	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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