Variant report

Variant	rs10857981
Chromosome Location	chr1:113446839-113446840
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113445118..113448523-chr1:113453652..113455842,3	MCF-7	breast:
2	chr1:113444785..113447653-chr1:113457108..113462049,4	K562	blood:
3	chr1:113446003..113448854-chr1:113463781..113465733,2	MCF-7	breast:
4	chr1:113446024..113448381-chr1:113497759..113499583,2	K562	blood:
5	chr1:113441028..113443640-chr1:113445198..113447610,3	MCF-7	breast:
6	chr1:113445368..113447569-chr1:113467662..113470258,2	K562	blood:
7	chr1:113445363..113447698-chr1:113464880..113466505,2	K562	blood:
8	chr1:113445849..113448733-chr1:113470984..113473265,2	K562	blood:
9	chr1:113445067..113447939-chr1:113458429..113462240,3	K562	blood:
10	chr1:113342047..113343911-chr1:113444698..113447399,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229020	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10158127	0.92[ASN][1000 genomes]
rs10399593	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10776763	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10857980	0.93[ASN][1000 genomes]
rs10857982	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10857983	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11102559	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11102562	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11102565	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11102568	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12028967	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12037621	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12043035	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344429	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1539624	0.91[ASN][1000 genomes]
rs1539625	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2002402	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2096301	0.94[ASN][1000 genomes]
rs2105388	0.93[ASN][1000 genomes]
rs2360009	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4301628	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838969	0.93[ASN][1000 genomes]
rs4838970	0.92[ASN][1000 genomes]
rs4839273	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57549167	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819971	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61819997	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6537762	0.89[ASN][1000 genomes]
rs6670224	0.92[ASN][1000 genomes]
rs6681037	0.94[ASN][1000 genomes]
rs6681552	0.92[ASN][1000 genomes]
rs6682142	0.96[EUR][1000 genomes]
rs9633370	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
13	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
3	chr1:113439400-113447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:113440200-113456400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:113443800-113449600	Enhancers	Stomach Mucosa	stomach
7	chr1:113444400-113447400	Weak transcription	Liver	Liver
8	chr1:113444400-113447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:113444400-113454400	Weak transcription	HepG2	liver
10	chr1:113444400-113456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:113445000-113450400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:113445600-113447600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:113445600-113449400	Enhancers	HMEC	breast
14	chr1:113445800-113447000	Enhancers	K562	blood
15	chr1:113445800-113447200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:113445800-113448200	Enhancers	Fetal Intestine Small	intestine
17	chr1:113445800-113449200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:113445800-113449600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:113445800-113449600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:113445800-113450000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:113445800-113450400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:113446000-113447400	Enhancers	Small Intestine	intestine
23	chr1:113446000-113447800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:113446000-113448000	Enhancers	Fetal Intestine Large	intestine
25	chr1:113446000-113449000	Enhancers	Right Atrium	heart
26	chr1:113446000-113449600	Enhancers	Hela-S3	cervix
27	chr1:113446000-113450600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:113446000-113456600	Weak transcription	Fetal Heart	heart
29	chr1:113446200-113447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:113446200-113447000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:113446200-113447200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:113446200-113447600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:113446200-113447800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:113446200-113448000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:113446200-113448000	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:113446200-113449000	Enhancers	NHLF	lung
37	chr1:113446200-113449200	Enhancers	NH-A	brain
38	chr1:113446200-113449600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:113446200-113449600	Enhancers	Osteobl	bone
40	chr1:113446200-113455600	Weak transcription	A549	lung
41	chr1:113446400-113447400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:113446400-113447600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:113446400-113448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:113446400-113448800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:113446400-113449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:113446400-113449600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:113446400-113450000	Weak transcription	Gastric	stomach
48	chr1:113446400-113457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:113446600-113447400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:113446600-113447400	Enhancers	Rectal Mucosa Donor 29	rectum

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