Variant report

Variant	rs1983929
Chromosome Location	chr1:113549981-113549982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113549959-113550104	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113497317..113500096-chr1:113548830..113550442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236066	TF binding region
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1049434	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10857980	0.83[CEU][hapmap]
rs11102573	0.91[ASN][1000 genomes]
rs11102574	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11102575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11102576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11584099	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11584535	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11588345	0.91[ASN][1000 genomes]
rs11590170	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11590174	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12128904	0.89[ASN][1000 genomes]
rs12129863	0.91[ASN][1000 genomes]
rs1216603	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1216772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1216773	0.91[ASN][1000 genomes]
rs1216775	0.91[ASN][1000 genomes]
rs1216779	0.92[ASN][1000 genomes]
rs1216781	0.94[JPT][hapmap]
rs1216783	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1216784	0.88[ASN][1000 genomes]
rs1216785	0.90[ASN][1000 genomes]
rs12184285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12354228	0.90[ASN][1000 genomes]
rs12745675	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12746771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12754835	0.81[ASN][1000 genomes]
rs1539624	0.84[CEU][hapmap]
rs1544227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1627925	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629027	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs17014850	0.91[ASN][1000 genomes]
rs17030901	0.91[ASN][1000 genomes]
rs17030905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17030974	0.83[JPT][hapmap]
rs1728218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1728219	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1728232	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766862	0.94[JPT][hapmap]
rs1778024	0.94[JPT][hapmap]
rs1778025	0.94[JPT][hapmap]
rs2769259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2798691	0.91[ASN][1000 genomes]
rs2798692	0.90[ASN][1000 genomes]
rs34233065	0.91[ASN][1000 genomes]
rs34565381	0.90[ASN][1000 genomes]
rs3789592	0.88[CEU][hapmap]
rs3889656	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs61818171	0.91[ASN][1000 genomes]
rs61818172	0.91[ASN][1000 genomes]
rs61818173	0.91[ASN][1000 genomes]
rs61818174	0.91[ASN][1000 genomes]
rs61818176	0.85[ASN][1000 genomes]
rs6537764	0.83[EUR][1000 genomes]
rs6537765	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6656041	0.91[ASN][1000 genomes]
rs6656311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6663872	0.82[EUR][1000 genomes]
rs71659385	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7169	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7551223	0.80[EUR][1000 genomes]
rs7556664	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs773430	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773432	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773433	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773434	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773435	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs773439	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773440	0.91[ASN][1000 genomes]
rs773442	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9633370	0.84[CEU][hapmap]
rs9787311	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	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
11	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
12	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
3	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
5	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
6	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
7	chr1:113529000-113554400	Weak transcription	Lung	lung
8	chr1:113533600-113555600	Weak transcription	Fetal Lung	lung
9	chr1:113535600-113552200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:113535600-113557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:113535800-113550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:113537200-113554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:113537400-113550400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:113537400-113554200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:113537600-113552800	Weak transcription	Fetal Thymus	thymus
20	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
21	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
23	chr1:113541400-113550200	Weak transcription	Primary B cells from cord blood	blood
24	chr1:113541400-113553200	Weak transcription	Aorta	Aorta
25	chr1:113541400-113554800	Weak transcription	A549	lung
26	chr1:113541600-113551400	Weak transcription	NH-A	brain
27	chr1:113541600-113555600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:113541600-113564200	Weak transcription	Osteobl	bone
29	chr1:113541800-113550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:113541800-113552200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:113541800-113552800	Weak transcription	Ovary	ovary
32	chr1:113541800-113554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:113541800-113554800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:113541800-113564000	Weak transcription	K562	blood
35	chr1:113542000-113550000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:113542000-113550000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:113542000-113551000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:113542000-113552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:113542000-113552800	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:113542000-113554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:113542000-113554400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:113542000-113558400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:113542000-113564000	Weak transcription	Hela-S3	cervix
44	chr1:113542200-113550000	Weak transcription	Left Ventricle	heart
45	chr1:113542200-113550400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:113542200-113550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:113542200-113550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:113542200-113554400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:113542800-113550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:113542800-113550600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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