Variant report

Variant	rs73405312
Chromosome Location	chr22:33781706-33781707
allele	A/G
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	chr22:33781636-33781966	IMR90	lung:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
2	MAFK	chr22:33781617-33781985	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
3	MAFF	chr22:33781640-33781957	HepG2	liver:	n/a	chr22:33781793-33781811
4	MAFK	chr22:33781640-33781978	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
5	MAFF	chr22:33781674-33781931	K562	blood:	n/a	chr22:33781793-33781811

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11913820	1.00[EUR][1000 genomes]
rs11914009	1.00[EUR][1000 genomes]
rs12158409	1.00[EUR][1000 genomes]
rs12158415	1.00[EUR][1000 genomes]
rs12159214	1.00[EUR][1000 genomes]
rs16991969	1.00[EUR][1000 genomes]
rs16992012	1.00[EUR][1000 genomes]
rs2413177	1.00[EUR][1000 genomes]
rs56660136	1.00[EUR][1000 genomes]
rs56784849	1.00[EUR][1000 genomes]
rs57006134	1.00[EUR][1000 genomes]
rs57743865	1.00[EUR][1000 genomes]
rs58653235	1.00[EUR][1000 genomes]
rs59845765	1.00[EUR][1000 genomes]
rs5994714	1.00[EUR][1000 genomes]
rs5998838	1.00[EUR][1000 genomes]
rs5998840	1.00[EUR][1000 genomes]
rs5998841	1.00[EUR][1000 genomes]
rs5998848	1.00[EUR][1000 genomes]
rs5998853	1.00[EUR][1000 genomes]
rs5998854	1.00[EUR][1000 genomes]
rs5998856	1.00[EUR][1000 genomes]
rs5998857	1.00[EUR][1000 genomes]
rs60578463	1.00[EUR][1000 genomes]
rs6518814	1.00[EUR][1000 genomes]
rs7286990	1.00[EUR][1000 genomes]
rs73401424	1.00[AMR][1000 genomes]
rs73403398	1.00[EUR][1000 genomes]
rs73405344	1.00[EUR][1000 genomes]
rs73405383	1.00[EUR][1000 genomes]
rs73407399	1.00[EUR][1000 genomes]
rs73409026	1.00[EUR][1000 genomes]
rs73885004	1.00[EUR][1000 genomes]
rs741979	1.00[EUR][1000 genomes]
rs743792	1.00[EUR][1000 genomes]
rs8136395	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
14	esv1839104	chr22:33779182-33782594	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3455815	chr22:33780077-33783585	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv10619	chr22:33780263-33783473	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv820903	chr22:33780300-33783300	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3455814	chr22:33780308-33783455	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv829178	chr22:33780337-33782251	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3455816	chr22:33780354-33783433	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3455812	chr22:33780373-33783404	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3455813	chr22:33780379-33783394	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3455817	chr22:33780379-33783394	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1841826	chr22:33780401-33782594	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv829179	chr22:33780406-33782251	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv820301	chr22:33780422-33783105	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv588919	chr22:33780897-33782008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1834396	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv1835262	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv1835706	chr22:33780897-33782594	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1835899	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1836116	chr22:33780897-33782594	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1836753	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1838855	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv588920	chr22:33780897-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv1834972	chr22:33780897-33782707	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv1836804	chr22:33780897-33782707	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv588921	chr22:33780897-33782707	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1840336	chr22:33780897-33798116	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv588922	chr22:33781011-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	nsv588923	chr22:33781067-33782594	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv588924	chr22:33781122-33782594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv588925	chr22:33781177-33782415	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv588926	chr22:33781177-33782707	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv588927	chr22:33781237-33782594	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv588928	chr22:33781654-33782594	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
2	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
3	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
7	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:33776200-33782200	Weak transcription	HepG2	liver
11	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:33777200-33786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
18	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
19	chr22:33778800-33784200	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:33778800-33786400	Weak transcription	Lung	lung
21	chr22:33778800-33789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:33778800-33796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:33778800-33796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:33779000-33800000	Weak transcription	Fetal Intestine Small	intestine
26	chr22:33779200-33786400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:33780000-33783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:33780200-33802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:33780400-33782000	Weak transcription	Fetal Brain Female	brain
31	chr22:33780400-33796600	Weak transcription	Right Ventricle	heart
32	chr22:33780600-33782600	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:33780600-33782800	Weak transcription	Aorta	Aorta
34	chr22:33780600-33783800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:33780600-33789400	Weak transcription	Ovary	ovary
36	chr22:33780600-33789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:33780600-33796600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:33780600-33796800	Weak transcription	Left Ventricle	heart
39	chr22:33780600-33805200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:33780600-33834000	Weak transcription	Gastric	stomach
41	chr22:33780800-33785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:33780800-33789400	Weak transcription	Fetal Intestine Large	intestine
43	chr22:33780800-33823000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:33781000-33783600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:33781000-33785800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:33781000-33796600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:33781200-33790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr22:33781200-33793600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:33781200-33796200	Weak transcription	Fetal Stomach	stomach
50	chr22:33781200-33814800	Weak transcription	Stomach Smooth Muscle	stomach

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