Variant report

Variant	rs2985707
Chromosome Location	chr1:155749870-155749871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10908481	0.89[ASN][1000 genomes]
rs10908482	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264409	0.89[ASN][1000 genomes]
rs11264410	1.00[ASN][1000 genomes]
rs11264413	0.86[ASN][1000 genomes]
rs12024187	0.81[ASN][1000 genomes]
rs12024257	0.83[ASN][1000 genomes]
rs12040894	0.96[ASN][1000 genomes]
rs12081192	0.86[ASN][1000 genomes]
rs12407800	0.91[ASN][1000 genomes]
rs1973768	0.81[ASN][1000 genomes]
rs2297775	0.96[ASN][1000 genomes]
rs28582361	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28662267	0.82[ASN][1000 genomes]
rs2948071	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2948072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4278368	0.90[ASN][1000 genomes]
rs490608	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6427286	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6427287	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6657670	0.86[ASN][1000 genomes]
rs6662953	0.95[ASN][1000 genomes]
rs6665227	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708611	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541060	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7550402	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs821551	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs822025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs822527	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860295	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426933	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2985707	RIT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
6	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155717600-155750200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:155720200-155750200	Strong transcription	Primary T cells from cord blood	blood
9	chr1:155720200-155750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
14	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:155720400-155750200	Strong transcription	Adipose Nuclei	Adipose
16	chr1:155720400-155750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:155720400-155750600	Strong transcription	Dnd41	blood
18	chr1:155720400-155755600	Strong transcription	Placenta	Placenta
19	chr1:155720400-155756400	Strong transcription	Liver	Liver
20	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:155720600-155757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:155727200-155754200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
25	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:155732400-155755600	Strong transcription	Fetal Intestine Large	intestine
27	chr1:155734600-155750800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:155734800-155756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:155735400-155750200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:155737200-155772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:155738400-155750600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:155738600-155750200	Strong transcription	Primary B cells from cord blood	blood
33	chr1:155743000-155763400	Weak transcription	HMEC	breast
34	chr1:155743200-155773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:155743600-155754600	Weak transcription	Colonic Mucosa	Colon
36	chr1:155743600-155762200	Weak transcription	NHDF-Ad	bronchial
37	chr1:155744200-155757600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:155744600-155750600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:155744600-155754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:155745200-155750200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:155745200-155761000	Strong transcription	Fetal Intestine Small	intestine
42	chr1:155745600-155753000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:155746200-155754600	Weak transcription	Small Intestine	intestine
44	chr1:155746400-155774000	Weak transcription	Pancreas	Pancrea
45	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
46	chr1:155746600-155763400	Weak transcription	Spleen	Spleen
47	chr1:155746800-155750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:155746800-155752000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:155746800-155753000	Weak transcription	HSMMtube	muscle
50	chr1:155746800-155756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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