Variant report

Variant	rs6668870
Chromosome Location	chr1:45141645-45141646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr1:45141604-45143332	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45100964..45102855-chr1:45141535..45143464,3	K562	blood:
2	chr1:45140788..45143214-chr1:45143227..45145914,3	K562	blood:
3	chr1:45138628..45142139-chr1:45284311..45287293,3	K562	blood:
4	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
5	chr1:45141360..45143507-chr1:45193675..45195240,2	MCF-7	breast:
6	chr1:45140169..45143277-chr1:45195258..45198293,3	MCF-7	breast:
7	chr1:45105542..45109261-chr1:45139821..45142236,3	K562	blood:

No data

Variant related genes	Relation type
TMEM53	TF binding region
ENSG00000187147	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11581074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022097	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1276066	0.88[AFR][1000 genomes]
rs1963490	0.95[ASN][1000 genomes]
rs34948326	0.96[ASN][1000 genomes]
rs3850853	0.84[ASN][1000 genomes]
rs3889696	0.93[EUR][1000 genomes]
rs4660818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660821	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660822	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789885	0.91[EUR][1000 genomes]
rs6678831	0.90[EUR][1000 genomes]
rs6683133	0.96[ASN][1000 genomes]
rs72899527	0.88[EUR][1000 genomes]
rs7538419	0.96[ASN][1000 genomes]
rs7539607	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45140400-45143400	Enhancers	Small Intestine	intestine
2	chr1:45140600-45142200	Enhancers	Spleen	Spleen
3	chr1:45140600-45142600	Weak transcription	Gastric	stomach
4	chr1:45140600-45150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:45140800-45142000	Enhancers	Lung	lung
6	chr1:45140800-45142000	Enhancers	Psoas Muscle	Psoas
7	chr1:45140800-45142200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:45140800-45142600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:45140800-45143000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:45140800-45143000	Enhancers	Placenta	Placenta
11	chr1:45140800-45143000	Enhancers	Fetal Thymus	thymus
12	chr1:45140800-45143000	Enhancers	HUVEC	blood vessel
13	chr1:45140800-45143600	Enhancers	Fetal Intestine Large	intestine
14	chr1:45140800-45143600	Enhancers	Stomach Mucosa	stomach
15	chr1:45140800-45143800	Enhancers	Colonic Mucosa	Colon
16	chr1:45140800-45144000	Enhancers	Primary B cells from cord blood	blood
17	chr1:45140800-45145000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:45140800-45146800	Weak transcription	Esophagus	oesophagus
19	chr1:45141000-45141800	Weak transcription	Right Atrium	heart
20	chr1:45141000-45142000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:45141000-45142000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:45141000-45142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:45141000-45142000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:45141000-45142000	Weak transcription	Brain Anterior Caudate	brain
25	chr1:45141000-45142000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:45141000-45142000	Weak transcription	Right Ventricle	heart
27	chr1:45141000-45142000	Weak transcription	HMEC	breast
28	chr1:45141000-45142000	Enhancers	Osteobl	bone
29	chr1:45141000-45142200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:45141000-45142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:45141000-45142200	Weak transcription	Fetal Heart	heart
32	chr1:45141000-45142400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:45141000-45142400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:45141000-45142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:45141000-45142400	Enhancers	HSMMtube	muscle
36	chr1:45141000-45142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:45141000-45142600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:45141000-45142600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:45141000-45143000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:45141000-45143400	Enhancers	Fetal Intestine Small	intestine
41	chr1:45141000-45143600	Enhancers	NHDF-Ad	bronchial
42	chr1:45141000-45143800	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:45141000-45143800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:45141000-45144000	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:45141000-45144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:45141000-45144800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:45141000-45144800	Enhancers	Liver	Liver
48	chr1:45141000-45144800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:45141000-45145000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:45141000-45145200	Enhancers	Adipose Nuclei	Adipose

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