Variant report

Variant	rs13447420
Chromosome Location	chr7:5566117-5566118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:22109518..22110108-chr7:5565710..5566492,2	Hela-S3	cervix:
2	chr7:5565741..5566701-chr8:56986615..56987256,2	Hela-S3	cervix:
3	chr1:205090698..205091616-chr7:5565667..5566376,2	Hela-S3	cervix:
4	chr5:60240719..60241406-chr7:5565965..5566493,2	Hela-S3	cervix:
5	chr11:67275158..67276037-chr7:5565840..5566642,2	Hela-S3	cervix:
6	chr7:5564232..5566290-chr7:5741768..5743485,2	K562	blood:
7	chr7:5532821..5537343-chr7:5561090..5568556,9	MCF-7	breast:
8	chr7:5564017..5566225-chr9:127629597..127631320,2	K562	blood:
9	chr19:13953293..13954093-chr7:5565732..5566529,2	Hela-S3	cervix:
10	chr17:33570320..33571254-chr7:5565868..5566421,2	Hela-S3	cervix:
11	chr20:44992505..44993226-chr7:5565605..5566565,2	Hela-S3	cervix:
12	chr22:37956793..37957427-chr7:5565577..5566314,2	Hela-S3	cervix:
13	chr11:65270493..65272060-chr7:5564112..5566330,2	K562	blood:
14	chr6:37759760..37760279-chr7:5565667..5566244,2	HCT-116	colon:
15	chr19:2476111..2476696-chr7:5565818..5566755,2	Hela-S3	cervix:
16	chr7:5565892..5566639-chr9:86595091..86595803,2	Hela-S3	cervix:
17	chr12:70636694..70637624-chr7:5565646..5566304,2	Hela-S3	cervix:
18	chr1:144534195..144534701-chr7:5566117..5567103,2	Hela-S3	cervix:
19	chr11:73087048..73087947-chr7:5566062..5566690,2	Hela-S3	cervix:
20	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
21	chr6:26199788..26200550-chr7:5565555..5566318,2	Hela-S3	cervix:
22	chr6:30615321..30618235-chr7:5564557..5566574,2	K562	blood:
23	chr14:50778689..50779472-chr7:5566059..5566983,2	Hela-S3	cervix:
24	chr7:5565631..5566156-chr7:5704782..5705541,2	K562	blood:
25	chr7:5566111..5566653-chr7:5594503..5595319,2	NB4	blood:
26	chr7:5565957..5566569-chr7:112124589..112125447,2	Hela-S3	cervix:
27	chr1:78469824..78470453-chr7:5565897..5566544,2	Hela-S3	cervix:
28	chr6:26285122..26286116-chr7:5566008..5566755,2	Hela-S3	cervix:
29	chr3:50374237..50374856-chr7:5565993..5566639,2	Hela-S3	cervix:
30	chr18:65183418..65184221-chr7:5565715..5566532,2	Hela-S3	cervix:
31	chr11:65201797..65202588-chr7:5565862..5566555,2	Hela-S3	cervix:
32	chr6:74295192..74295831-chr7:5565833..5566704,2	NB4	blood:
33	chr7:5543312..5546595-chr7:5565021..5567122,3	K562	blood:
34	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
35	chr7:5531674..5538636-chr7:5559187..5568754,14	K562	blood:
36	chr1:24739606..24740162-chr7:5565840..5566377,2	Hela-S3	cervix:
37	chr14:35590527..35592686-chr7:5564238..5567233,2	K562	blood:
38	chr7:5529665..5550961-chr7:5562806..5572698,47	MCF-7	breast:
39	chr11:122931754..122933972-chr7:5564333..5566909,2	K562	blood:
40	chr7:5565616..5566492-chr7:100026287..100027598,3	Hela-S3	cervix:
41	chr11:65642046..65643611-chr7:5563687..5566581,2	K562	blood:
42	chr10:88281228..88282146-chr7:5565403..5566318,2	Hela-S3	cervix:
43	chr1:154944885..154945572-chr7:5565859..5566615,2	Hela-S3	cervix:
44	chr12:49524669..49525376-chr7:5565488..5566125,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000167797	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000117222	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000062650	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000049167	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000228974	Chromatin interaction
ENSG00000265533	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000008988	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000257815	Chromatin interaction
ENSG00000090686	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000171451	Chromatin interaction
ENSG00000227896	Chromatin interaction
ENSG00000087299	Chromatin interaction
ENSG00000080189	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000109971	Chromatin interaction
ENSG00000125375	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000164182	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000111596	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35418889	1.00[AMR][1000 genomes]
rs35737506	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
8	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
9	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
10	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
11	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
12	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
13	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
15	nsv517558	chr7:5506499-5572132	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	260 gene(s)	inside rSNPs	diseases
16	nsv887411	chr7:5516940-5568294	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
17	nsv471304	chr7:5516940-5568366	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
18	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
19	nsv530985	chr7:5536846-5570918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	246 gene(s)	inside rSNPs	diseases
20	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
21	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
22	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
23	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5554400-5566800	Weak transcription	Fetal Heart	heart
2	chr7:5554600-5566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:5561200-5569200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:5561400-5567400	Weak transcription	Ovary	ovary
5	chr7:5562000-5566200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:5562800-5566200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:5562800-5566200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:5562800-5566200	Strong transcription	Fetal Intestine Small	intestine
9	chr7:5562800-5566400	Strong transcription	Thymus	Thymus
10	chr7:5562800-5567000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:5562800-5567200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:5562800-5567400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr7:5562800-5567400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:5563000-5566200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:5563000-5566200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:5563000-5567400	Strong transcription	Lung	lung
17	chr7:5563400-5566200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:5563400-5567400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:5563600-5566200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:5563600-5566200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:5563600-5566200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:5563600-5566200	Strong transcription	Adipose Nuclei	Adipose
23	chr7:5563600-5566600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:5563600-5567200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:5563600-5567400	Strong transcription	Gastric	stomach
26	chr7:5563800-5566400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:5563800-5566400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:5563800-5566800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:5563800-5567400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:5564000-5566200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr7:5564000-5566400	Strong transcription	Brain Cingulate Gyrus	brain
32	chr7:5564200-5566200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:5564800-5566200	Strong transcription	Brain Angular Gyrus	brain
34	chr7:5564800-5566200	Strong transcription	HUVEC	blood vessel
35	chr7:5564800-5566400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:5564800-5566400	Strong transcription	Brain Hippocampus Middle	brain
37	chr7:5564800-5566400	Strong transcription	Fetal Intestine Large	intestine
38	chr7:5564800-5566600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:5564800-5566600	Genic enhancers	Fetal Brain Male	brain
40	chr7:5564800-5566600	Strong transcription	Fetal Lung	lung
41	chr7:5564800-5566800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
42	chr7:5565000-5566200	Strong transcription	Primary B cells from cord blood	blood
43	chr7:5565000-5566200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:5565000-5566200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:5565000-5566200	Strong transcription	NHDF-Ad	bronchial
46	chr7:5565000-5566400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:5565000-5566400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:5565000-5566400	Strong transcription	HepG2	liver
49	chr7:5565000-5566400	Strong transcription	HSMMtube	muscle
50	chr7:5565000-5566600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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