Variant report

Variant	rs73020461
Chromosome Location	chr1:153467721-153467722
allele	C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153466147..153468573-chr1:153470167..153472287,2	MCF-7	breast:
2	chr1:153327411..153328641-chr1:153466836..153468073,11	MCF-7	breast:
3	chr1:153467594..153470337-chr1:153471683..153474675,2	K562	blood:
4	chr1:153437921..153438982-chr1:153467024..153468074,6	K562	blood:
5	chr1:153372472..153373407-chr1:153467323..153468103,2	MCF-7	breast:
6	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
7	chr1:153467541..153469828-chr1:153502709..153505691,2	K562	blood:
8	chr1:153466848..153469559-chr1:153579592..153581140,2	K562	blood:
9	chr1:153372875..153373458-chr1:153467145..153468018,2	K562	blood:
10	chr1:153359777..153361314-chr1:153466006..153468984,2	MCF-7	breast:
11	chr1:153324602..153325710-chr1:153466750..153468036,9	K562	blood:
12	chr1:153437926..153438880-chr1:153467491..153468041,2	MCF-7	breast:
13	chr1:153327529..153328936-chr1:153467060..153468007,4	K562	blood:
14	chr1:153366171..153367906-chr1:153465906..153468901,2	MCF-7	breast:
15	chr1:153440789..153442801-chr1:153466066..153467903,2	MCF-7	breast:
16	chr1:153327211..153328627-chr1:153466495..153468029,11	MCF-7	breast:
17	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
18	chr1:153437206..153440694-chr1:153466029..153468031,4	MCF-7	breast:
19	chr1:153372591..153373475-chr1:153467006..153467975,2	MCF-7	breast:
20	chr1:153438181..153439098-chr1:153467083..153468312,5	MCF-7	breast:
21	chr1:153324635..153326715-chr1:153466816..153468514,22	MCF-7	breast:
22	chr1:153324699..153327134-chr1:153466308..153468062,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188643	Chromatin interaction
ENSG00000163218	Chromatin interaction
ENSG00000163220	Chromatin interaction
ENSG00000263841	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11488667	1.00[EUR][1000 genomes]
rs11973	1.00[EUR][1000 genomes]
rs16835357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835375	1.00[EUR][1000 genomes]
rs16835379	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16835389	1.00[EUR][1000 genomes]
rs16835409	1.00[EUR][1000 genomes]
rs16835413	1.00[EUR][1000 genomes]
rs16835417	1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs2230870	1.00[EUR][1000 genomes]
rs28373144	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28407716	1.00[EUR][1000 genomes]
rs28442251	1.00[EUR][1000 genomes]
rs28451322	1.00[EUR][1000 genomes]
rs28456342	1.00[EUR][1000 genomes]
rs28485860	1.00[EUR][1000 genomes]
rs28510499	1.00[EUR][1000 genomes]
rs28578863	1.00[EUR][1000 genomes]
rs28587171	1.00[EUR][1000 genomes]
rs28605603	1.00[EUR][1000 genomes]
rs28634320	1.00[EUR][1000 genomes]
rs28645589	1.00[EUR][1000 genomes]
rs28648662	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28690872	1.00[EUR][1000 genomes]
rs28694652	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28709866	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28784102	1.00[EUR][1000 genomes]
rs3014827	1.00[EUR][1000 genomes]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[EUR][1000 genomes]
rs56255753	1.00[EUR][1000 genomes]
rs56401460	1.00[EUR][1000 genomes]
rs58529054	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59209384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59617976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219287	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60460123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61038462	1.00[EUR][1000 genomes]
rs61131911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61148582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020496	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73020497	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73024502	1.00[EUR][1000 genomes]
rs73026308	1.00[EUR][1000 genomes]
rs730347	1.00[EUR][1000 genomes]
rs74115477	1.00[EUR][1000 genomes]
rs74115478	1.00[EUR][1000 genomes]
rs74115489	1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[EUR][1000 genomes]
rs7543851	1.00[EUR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153459000-153467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:153462800-153479000	Weak transcription	Right Atrium	heart
3	chr1:153464000-153469600	Weak transcription	Fetal Lung	lung
4	chr1:153464400-153471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:153465800-153468600	Enhancers	Fetal Heart	heart
6	chr1:153466000-153467800	Enhancers	Colon Smooth Muscle	Colon
7	chr1:153466000-153467800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr1:153466200-153471200	Weak transcription	Aorta	Aorta
9	chr1:153466400-153467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:153466800-153468400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:153467000-153468000	Enhancers	Fetal Stomach	stomach
12	chr1:153467000-153468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:153467000-153468400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:153467200-153467800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:153467200-153468000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:153467200-153478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:153467400-153467800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:153467400-153468200	Enhancers	Primary B cells from cord blood	blood
19	chr1:153467400-153468200	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:153467400-153468400	Enhancers	Ovary	ovary
21	chr1:153467600-153467800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:153467600-153467800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:153467600-153467800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr1:153467600-153467800	Enhancers	Adipose Nuclei	Adipose
25	chr1:153467600-153467800	Enhancers	Brain Angular Gyrus	brain
26	chr1:153467600-153467800	Bivalent Enhancer	Brain Substantia Nigra	brain
27	chr1:153467600-153467800	Enhancers	Esophagus	oesophagus
28	chr1:153467600-153467800	Enhancers	Placenta	Placenta
29	chr1:153467600-153467800	Enhancers	Fetal Thymus	thymus
30	chr1:153467600-153467800	Enhancers	Left Ventricle	heart
31	chr1:153467600-153467800	Enhancers	Pancreas	Pancrea
32	chr1:153467600-153467800	Enhancers	Psoas Muscle	Psoas
33	chr1:153467600-153467800	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:153467600-153467800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr1:153467600-153467800	Enhancers	HSMM	muscle
36	chr1:153467600-153468000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:153467600-153468000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:153467600-153468000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:153467600-153468000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr1:153467600-153468000	Enhancers	Right Ventricle	heart
41	chr1:153467600-153468000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:153467600-153468000	Enhancers	GM12878-XiMat	blood
43	chr1:153467600-153468200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:153467600-153468200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:153467600-153468400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr1:153467600-153468400	Enhancers	Fetal Muscle Leg	muscle

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