Variant report

Variant	rs999891
Chromosome Location	chr2:209190649-209190650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209188864..209190973-chr2:209192506..209194308,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10173938	0.86[EUR][1000 genomes]
rs10174541	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10176626	0.88[EUR][1000 genomes]
rs10177810	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186350	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10189031	0.86[EUR][1000 genomes]
rs10190458	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10194539	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10198535	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10497897	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10497898	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10932260	0.88[EUR][1000 genomes]
rs11538998	0.80[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs11885913	0.90[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11891163	1.00[ASN][1000 genomes]
rs11893137	0.82[MKK][hapmap]
rs11895188	0.80[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap]
rs11898653	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11901959	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11902124	1.00[CHD][hapmap]
rs12185709	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12475932	0.90[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs1259699	1.00[CHD][hapmap]
rs12694104	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12991283	1.00[ASN][1000 genomes]
rs12998277	1.00[ASN][1000 genomes]
rs13395035	1.00[ASN][1000 genomes]
rs13395304	0.84[EUR][1000 genomes]
rs13400356	1.00[ASN][1000 genomes]
rs13407268	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13407897	0.90[EUR][1000 genomes]
rs13412043	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1347664	1.00[CHD][hapmap]
rs1437413	1.00[CHD][hapmap]
rs1584200	0.88[EUR][1000 genomes]
rs16840913	0.82[MKK][hapmap]
rs16841236	1.00[CHD][hapmap]
rs17699838	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17700235	0.90[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs1816612	1.00[CHD][hapmap]
rs1866046	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1900239	0.88[EUR][1000 genomes]
rs2304545	0.93[EUR][1000 genomes]
rs2363465	0.86[EUR][1000 genomes]
rs2363466	0.86[EUR][1000 genomes]
rs28418905	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28885800	1.00[ASN][1000 genomes]
rs35217101	1.00[ASN][1000 genomes]
rs35293936	1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs4673391	0.88[EUR][1000 genomes]
rs4673393	0.86[EUR][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4675748	0.91[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6435435	1.00[CHD][hapmap]
rs66826643	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66887797	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716615	1.00[CHD][hapmap]
rs6717082	1.00[CHD][hapmap]
rs6724208	0.88[EUR][1000 genomes]
rs6725527	1.00[ASN][1000 genomes]
rs6736599	0.88[EUR][1000 genomes]
rs67660353	1.00[ASN][1000 genomes]
rs67669827	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67965883	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73056463	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7355562	0.98[EUR][1000 genomes]
rs7557303	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7587752	0.88[EUR][1000 genomes]
rs7592472	0.93[EUR][1000 genomes]
rs9288392	0.88[EUR][1000 genomes]
rs999890	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised 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 target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
5	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:209183200-209193800	Weak transcription	Fetal Brain Male	brain
7	chr2:209184600-209201400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:209186200-209194000	Weak transcription	Fetal Heart	heart
10	chr2:209188000-209201000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:209188400-209213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:209188600-209214200	Strong transcription	Placenta	Placenta
15	chr2:209188800-209190800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:209188800-209190800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:209188800-209191000	Strong transcription	Brain Germinal Matrix	brain
18	chr2:209188800-209191200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr2:209188800-209191200	Strong transcription	Fetal Lung	lung
20	chr2:209188800-209191200	Strong transcription	Gastric	stomach
21	chr2:209188800-209191200	Strong transcription	Thymus	Thymus
22	chr2:209188800-209191400	Strong transcription	Colon Smooth Muscle	Colon
23	chr2:209188800-209191400	Strong transcription	Fetal Brain Female	brain
24	chr2:209188800-209191400	Strong transcription	Fetal Kidney	kidney
25	chr2:209188800-209191400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:209188800-209191400	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:209188800-209191400	Strong transcription	HSMMtube	muscle
28	chr2:209188800-209191600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:209188800-209191600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:209188800-209191600	Strong transcription	Left Ventricle	heart
31	chr2:209188800-209191600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:209188800-209191600	Strong transcription	Small Intestine	intestine
33	chr2:209188800-209191600	Strong transcription	NHLF	lung
34	chr2:209188800-209191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:209188800-209193000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:209188800-209193200	Strong transcription	HUVEC	blood vessel
37	chr2:209188800-209193800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:209188800-209194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:209188800-209194000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:209188800-209195800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:209188800-209195800	Strong transcription	NHDF-Ad	bronchial
42	chr2:209188800-209196000	Strong transcription	HepG2	liver
43	chr2:209188800-209196200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:209188800-209196200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:209188800-209196400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:209188800-209196400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:209188800-209196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:209188800-209197200	Strong transcription	Osteobl	bone
49	chr2:209188800-209197400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:209188800-209197600	Strong transcription	HSMM	muscle

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