Variant report

Variant	rs73465448
Chromosome Location	chr6:80520196-80520197
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	chr6:80519759-80520394	H1-neurons	neurons:	n/a	n/a
2	EP300	chr6:80519733-80520365	SK-N-SH_RA	brain:	n/a	n/a
3	PBX3	chr6:80519767-80520280	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr6:80519617-80520461	SK-N-SH	brain:	n/a	chr6:80520260-80520271
5	RAD21	chr6:80519787-80520226	SK-N-SH_RA	brain:	n/a	n/a
6	FOXM1	chr6:80519734-80520291	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:80519784-80520326	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr6:80519699-80520594	SK-N-SH	brain:	n/a	n/a
9	TCF7L2	chr6:80519756-80520494	HEK293	kidney:	n/a	n/a
10	RAD21	chr6:80519786-80520432	SK-N-SH_RA	brain:	n/a	chr6:80520313-80520327
11	POLR2A	chr6:80519677-80520390	H1-neurons	neurons:	n/a	n/a
12	GATA3	chr6:80519720-80520445	SK-N-SH	brain:	n/a	chr6:80520260-80520271
13	REST	chr6:80519841-80520265	SK-N-SH	brain:	n/a	n/a
14	GATA2	chr6:80519730-80520384	SH-SY5Y	brain:	n/a	chr6:80520260-80520271
15	EP300	chr6:80519284-80521200	SK-N-SH	brain:	n/a	chr6:80521099-80521113
16	REST	chr6:80519967-80520291	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr6:80519843-80520362	SK-N-SH	brain:	n/a	n/a
18	YY1	chr6:80519897-80520244	SK-N-SH_RA	brain:	n/a	n/a
19	KAP1	chr6:80519713-80520423	U2OS	brain:	n/a	n/a
20	REST	chr6:80519660-80520565	H1-neurons	neurons:	n/a	n/a
21	TEAD4	chr6:80519689-80520422	SK-N-SH	brain:	n/a	n/a
22	EP300	chr6:80519686-80520339	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr6:80519608-80520479	SK-N-SH	brain:	n/a	n/a
24	REST	chr6:80519718-80520419	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr6:80519780-80520290	SK-N-MC	brain:	n/a	n/a
26	KAP1	chr6:80519785-80520445	HEK293	kidney:	n/a	n/a
27	POLR2A	chr6:80519788-80520271	SK-N-SH	brain:	n/a	n/a
28	EP300	chr6:80519717-80520370	SK-N-SH_RA	brain:	n/a	n/a
29	TEAD4	chr6:80519867-80520381	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80502039..80503893-chr6:80518152..80520746,2	K562	blood:

Variant related genes	Relation type
ENSG00000235357	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16891071	0.89[AFR][1000 genomes]
rs16891073	1.00[AFR][1000 genomes]
rs73465437	0.89[AFR][1000 genomes]
rs73465453	0.89[AFR][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr6:80518400-80521400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:80518600-80521000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:80518800-80520800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:80518800-80521200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:80518800-80521400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:80519000-80520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:80519600-80520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:80519600-80520600	Enhancers	Fetal Lung	lung
9	chr6:80519600-80520800	Enhancers	Fetal Heart	heart
10	chr6:80519600-80520800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:80519600-80521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:80519800-80520200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:80519800-80520200	Active TSS	Brain Angular Gyrus	brain
14	chr6:80519800-80520200	Enhancers	Fetal Kidney	kidney
15	chr6:80519800-80520400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:80519800-80520400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:80519800-80520400	Enhancers	Fetal Stomach	stomach
18	chr6:80519800-80520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:80519800-80520600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:80519800-80520600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:80519800-80521000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:80519800-80521000	Enhancers	Fetal Muscle Leg	muscle
23	chr6:80520000-80520200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:80520000-80520200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:80520000-80520200	Flanking Active TSS	Fetal Brain Male	brain
26	chr6:80520000-80520200	Bivalent Enhancer	NH-A	brain
27	chr6:80520000-80520200	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr6:80520000-80520400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:80520000-80520400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:80520000-80520400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:80520000-80520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:80520000-80520400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr6:80520000-80520400	Active TSS	Brain Anterior Caudate	brain
34	chr6:80520000-80520400	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:80520000-80520400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr6:80520000-80520400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr6:80520000-80520400	Active TSS	Brain Substantia Nigra	brain
38	chr6:80520000-80520400	Flanking Active TSS	Fetal Brain Female	brain
39	chr6:80520000-80520400	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:80520000-80520400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:80520000-80520400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr6:80520000-80520600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:80520000-80520600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr6:80520000-80520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:80520000-80520800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links