Variant report

Variant	rs62043959
Chromosome Location	chr16:81525204-81525205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81525105-81525223	K562	blood:	n/a	n/a
2	POLR2A	chr16:81525164-81526596	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81523253..81525338-chr16:81546964..81549202,2	MCF-7	breast:
2	chr16:81510328..81512312-chr16:81524530..81527083,3	MCF-7	breast:
3	chr16:81520681..81522605-chr16:81522755..81525287,2	MCF-7	breast:
4	chr16:81477859..81481266-chr16:81523834..81526339,3	MCF-7	breast:
5	chr16:81516881..81521971-chr16:81523389..81527475,7	MCF-7	breast:

No data

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11861290	0.88[ASN][1000 genomes]
rs11861411	0.87[ASN][1000 genomes]
rs11861470	0.88[ASN][1000 genomes]
rs11862343	0.88[ASN][1000 genomes]
rs11865332	0.88[ASN][1000 genomes]
rs11865841	0.85[ASN][1000 genomes]
rs17674645	0.85[ASN][1000 genomes]
rs17742269	0.85[ASN][1000 genomes]
rs17777059	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803655	0.88[ASN][1000 genomes]
rs55683214	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56147704	0.88[ASN][1000 genomes]
rs62046565	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62046579	0.90[ASN][1000 genomes]
rs62046584	0.85[ASN][1000 genomes]
rs62046586	0.85[ASN][1000 genomes]
rs62046587	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62046588	0.88[ASN][1000 genomes]
rs72827197	0.88[ASN][1000 genomes]
rs72827200	0.88[ASN][1000 genomes]
rs881005	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
6	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
13	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
15	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:81517600-81526800	Genic enhancers	A549	lung
17	chr16:81518200-81525400	Weak transcription	HMEC	breast
18	chr16:81518200-81527000	Weak transcription	Thymus	Thymus
19	chr16:81518400-81525400	Enhancers	NHDF-Ad	bronchial
20	chr16:81519400-81525400	Enhancers	Adipose Nuclei	Adipose
21	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr16:81519800-81527200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:81520200-81525600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:81520200-81525800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:81520400-81532200	Enhancers	Spleen	Spleen
26	chr16:81520600-81525600	Weak transcription	Fetal Heart	heart
27	chr16:81520600-81526800	Weak transcription	Dnd41	blood
28	chr16:81520800-81527400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:81521000-81528600	Weak transcription	Primary T cells from cord blood	blood
30	chr16:81521200-81525800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:81521200-81526000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:81521400-81525400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:81522000-81526400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:81522200-81528800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:81522400-81526600	Weak transcription	NHEK	skin
36	chr16:81522400-81528400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
38	chr16:81522600-81525400	Weak transcription	Fetal Kidney	kidney
39	chr16:81522600-81528400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:81522600-81528800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:81522600-81529800	Enhancers	Esophagus	oesophagus
42	chr16:81522600-81532200	Enhancers	Fetal Muscle Trunk	muscle
43	chr16:81522800-81525800	Weak transcription	Fetal Intestine Large	intestine
44	chr16:81522800-81529800	Enhancers	Placenta	Placenta
45	chr16:81523200-81526800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:81523400-81525800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:81523400-81526000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:81523400-81526800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:81523600-81525400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:81523600-81525800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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