Variant report

Variant	rs73257670
Chromosome Location	chr8:67406775-67406776
allele	G/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	BHLHE40	chr8:67406379-67406986	K562	blood:	n/a	n/a
2	BACH1	chr8:67406671-67406869	H1-hESC	embryonic stem cell:	n/a	chr8:67406699-67406713
3	POLR2A	chr8:67406652-67406931	H1-neurons	neurons:	n/a	n/a
4	PBX3	chr8:67406597-67407076	SK-N-SH	brain:	n/a	n/a
5	JUND	chr8:67406703-67406859	K562	blood:	n/a	chr8:67406703-67406714
6	MAX	chr8:67406616-67406955	K562	blood:	n/a	chr8:67406702-67406711
7	MAX	chr8:67406762-67407113	K562	blood:	n/a	n/a
8	MAZ	chr8:67406488-67406814	K562	blood:	n/a	chr8:67406702-67406711
9	JUND	chr8:67406565-67406888	H1-hESC	embryonic stem cell:	n/a	chr8:67406703-67406714 chr8:67406702-67406710 chr8:67406702-67406710 chr8:67406702-67406709

Variant related genes	Relation type
C8orf46	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73691554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67405200-67406800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:67405200-67407000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr8:67405200-67407000	Enhancers	Fetal Brain Male	brain
4	chr8:67405200-67407200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:67405200-67407200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:67405200-67407400	Active TSS	Brain Cingulate Gyrus	brain
7	chr8:67405200-67407400	Active TSS	Brain Substantia Nigra	brain
8	chr8:67405200-67407600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:67405200-67408000	Active TSS	Brain Angular Gyrus	brain
10	chr8:67405200-67408000	Active TSS	Brain Hippocampus Middle	brain
11	chr8:67405200-67408200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:67405200-67408600	Active TSS	Brain Anterior Caudate	brain
13	chr8:67405600-67407200	Flanking Active TSS	HSMM	muscle
14	chr8:67405600-67407400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:67405800-67406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:67405800-67407200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr8:67405800-67407600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:67406000-67406800	Flanking Active TSS	Osteobl	bone
19	chr8:67406000-67407200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:67406000-67407200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:67406200-67407200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:67406200-67407200	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:67406200-67407400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:67406400-67406800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:67406400-67406800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:67406400-67406800	Flanking Active TSS	Aorta	Aorta
27	chr8:67406400-67406800	Enhancers	Liver	Liver
28	chr8:67406400-67406800	Active TSS	HepG2	liver
29	chr8:67406400-67406800	Enhancers	HUVEC	blood vessel
30	chr8:67406400-67406800	Flanking Active TSS	NHLF	lung
31	chr8:67406400-67407000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:67406400-67407000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:67406400-67407000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:67406400-67407000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:67406400-67407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:67406400-67407000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:67406400-67407000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:67406400-67407000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr8:67406400-67407000	Bivalent Enhancer	Fetal Stomach	stomach
40	chr8:67406400-67407000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:67406400-67407000	Flanking Active TSS	HSMMtube	muscle
42	chr8:67406400-67407000	Flanking Active TSS	NH-A	brain
43	chr8:67406400-67407200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:67406400-67407200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:67406400-67407200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:67406400-67407200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:67406400-67407200	Flanking Active TSS	Fetal Brain Female	brain
48	chr8:67406400-67407200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr8:67406400-67407200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr8:67406600-67406800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links