Variant report

Variant	rs61741088
Chromosome Location	chr1:45475278-45475279
allele	A/G
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:14)
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	MYC	chr1:45475260-45475334	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:45475073-45475392	HUVEC	blood vessel:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45469387..45472063-chr1:45473604..45475987,2	MCF-7	breast:
2	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
3	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
4	chr1:45474418..45476530-chr1:46048462..46051158,2	K562	blood:
5	chr1:45475180..45477058-chr1:45478388..45480349,2	MCF-7	breast:
6	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
7	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
8	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
9	chr1:45194719..45198675-chr1:45474706..45481379,10	K562	blood:
10	chr1:45184334..45189303-chr1:45475138..45480545,18	K562	blood:
11	chr1:45455788..45461421-chr1:45474837..45478788,5	MCF-7	breast:
12	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
13	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
14	chr1:45469532..45472999-chr1:45473175..45475841,4	MCF-7	breast:

No data

Variant related genes	Relation type
UROD	TF binding region
HECTD3	TF binding region
ENSG00000200169	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000226499	Chromatin interaction
ENSG00000268949	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10890315	1.00[AMR][1000 genomes]
rs11211054	1.00[AMR][1000 genomes]
rs11211065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059608	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061569	1.00[AFR][1000 genomes]
rs12063958	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068434	0.95[AFR][1000 genomes]
rs12073834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084076	0.89[AMR][1000 genomes]
rs12084469	1.00[AFR][1000 genomes]
rs12084731	1.00[AMR][1000 genomes]
rs12086670	0.98[AFR][1000 genomes]
rs12087439	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089789	1.00[AMR][1000 genomes]
rs12092185	0.95[AFR][1000 genomes]
rs28848532	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57180038	1.00[AMR][1000 genomes]
rs58263876	1.00[AMR][1000 genomes]
rs60060850	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61027524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61498433	0.98[AFR][1000 genomes]
rs6429555	0.95[AFR][1000 genomes]
rs6671064	1.00[AMR][1000 genomes]
rs6671639	1.00[AMR][1000 genomes]
rs6671658	1.00[AMR][1000 genomes]
rs6682367	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885257	1.00[AMR][1000 genomes]
rs72885265	1.00[AMR][1000 genomes]
rs72885293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887050	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887057	1.00[AFR][1000 genomes]
rs72887059	1.00[AFR][1000 genomes]
rs72887092	0.93[AFR][1000 genomes]
rs7512020	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547844	0.87[AMR][1000 genomes]
rs7555900	1.00[AMR][1000 genomes]
rs9728837	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45467000-45475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:45467000-45475400	Weak transcription	Psoas Muscle	Psoas
3	chr1:45467000-45476400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:45467400-45475400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:45467400-45475400	Strong transcription	Fetal Thymus	thymus
6	chr1:45467400-45475400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:45467600-45475400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:45467600-45475400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:45467600-45475400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr1:45467600-45475400	Strong transcription	Thymus	Thymus
11	chr1:45467600-45475600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:45467800-45475400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:45467800-45475400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:45467800-45475400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:45467800-45475400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:45467800-45475400	Strong transcription	HSMM	muscle
17	chr1:45467800-45475400	Strong transcription	K562	blood
18	chr1:45468000-45475400	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr1:45468200-45475400	Strong transcription	Aorta	Aorta
20	chr1:45468400-45475600	Strong transcription	Fetal Lung	lung
21	chr1:45468400-45475600	Strong transcription	Small Intestine	intestine
22	chr1:45469000-45475400	Weak transcription	Fetal Heart	heart
23	chr1:45469200-45475400	Strong transcription	Fetal Intestine Large	intestine
24	chr1:45470400-45475600	Strong transcription	Fetal Kidney	kidney
25	chr1:45470600-45475800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:45470600-45475800	Weak transcription	A549	lung
27	chr1:45470800-45475600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:45471600-45475600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:45472200-45475600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:45472800-45475600	Strong transcription	NHEK	skin
31	chr1:45473400-45475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:45473400-45475800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:45473600-45475400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:45473800-45475600	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr1:45474200-45475400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:45474200-45475600	Genic enhancers	Pancreas	Pancrea
37	chr1:45474200-45476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:45474400-45475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:45474400-45475600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr1:45474400-45475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:45474600-45475600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:45474600-45475800	Genic enhancers	Right Ventricle	heart
43	chr1:45474600-45476000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
44	chr1:45474800-45475400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:45474800-45475400	Genic enhancers	Adipose Nuclei	Adipose
46	chr1:45474800-45475400	Genic enhancers	Colonic Mucosa	Colon
47	chr1:45474800-45475400	Genic enhancers	Colon Smooth Muscle	Colon
48	chr1:45474800-45475400	Genic enhancers	Fetal Intestine Small	intestine
49	chr1:45474800-45475400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr1:45474800-45475400	Genic enhancers	Spleen	Spleen

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