Variant report

Variant	rs73048301
Chromosome Location	chr1:180470046-180470047
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180469616..180471969-chr1:181074123..181075942,2	K562	blood:
2	chr1:180469285..180472037-chr1:180483861..180487907,3	K562	blood:
3	chr1:179922809..179925375-chr1:180469288..180472844,3	MCF-7	breast:
4	chr1:180438874..180441365-chr1:180469997..180471942,2	K562	blood:
5	chr1:180468948..180471810-chr1:180491211..180493029,2	MCF-7	breast:
6	chr1:180139648..180141218-chr1:180469440..180471988,2	MCF-7	breast:
7	chr1:180167194..180169146-chr1:180469710..180471466,2	MCF-7	breast:
8	chr1:180221964..180223660-chr1:180469973..180471619,2	MCF-7	breast:
9	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135837	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000121454	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10798773	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16855995	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16856047	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16856096	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16856099	1.00[EUR][1000 genomes]
rs16856101	1.00[EUR][1000 genomes]
rs16856123	1.00[EUR][1000 genomes]
rs4291460	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4593779	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56020568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56727952	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58448569	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59566396	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61122637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61130309	1.00[EUR][1000 genomes]
rs6665811	1.00[EUR][1000 genomes]
rs6677338	1.00[EUR][1000 genomes]
rs6685482	1.00[EUR][1000 genomes]
rs73035577	0.95[AMR][1000 genomes]
rs73035587	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037405	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73037424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73046442	0.90[AMR][1000 genomes]
rs73048241	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73048326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73048331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73048343	0.95[AMR][1000 genomes]
rs73050233	1.00[EUR][1000 genomes]
rs73050297	1.00[EUR][1000 genomes]
rs73052305	1.00[EUR][1000 genomes]
rs73052322	1.00[EUR][1000 genomes]
rs7515944	0.89[ASN][1000 genomes]
rs7533246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
5	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
6	chr1:180437600-180471000	Weak transcription	Lung	lung
7	chr1:180444800-180470600	Weak transcription	Esophagus	oesophagus
8	chr1:180447000-180470400	Weak transcription	Colonic Mucosa	Colon
9	chr1:180448400-180470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:180453800-180470600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:180454600-180470600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:180455600-180470200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:180455600-180470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:180455600-180470200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:180455600-180471000	Weak transcription	Left Ventricle	heart
16	chr1:180456000-180470200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:180456000-180471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:180456400-180470200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:180456600-180470200	Weak transcription	Small Intestine	intestine
20	chr1:180456800-180470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:180457200-180470400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:180457400-180470200	Weak transcription	Fetal Kidney	kidney
23	chr1:180457400-180470400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:180457600-180470600	Weak transcription	NH-A	brain
25	chr1:180458000-180471000	Weak transcription	Aorta	Aorta
26	chr1:180459200-180471000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:180459600-180470400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:180462600-180470400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:180463200-180470200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:180464000-180470200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:180464400-180470400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:180464400-180470600	Weak transcription	Fetal Thymus	thymus
33	chr1:180464600-180470600	Weak transcription	Stomach Mucosa	stomach
34	chr1:180467200-180470400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:180467400-180470200	Enhancers	HepG2	liver
36	chr1:180467800-180470200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:180468200-180470200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:180468200-180471000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:180468200-180472600	Active TSS	GM12878-XiMat	blood
40	chr1:180468400-180470200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:180468400-180470200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:180468400-180470400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:180468400-180470600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:180468400-180470800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:180468400-180470800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:180468600-180470200	Weak transcription	Osteobl	bone
47	chr1:180468600-180470800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:180468600-180471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:180468800-180470200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:180468800-180470600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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