Variant report

Variant	rs1284851
Chromosome Location	chr1:213073366-213073367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10779596	0.93[ASN][1000 genomes]
rs10864024	0.98[ASN][1000 genomes]
rs10864030	0.93[ASN][1000 genomes]
rs11120063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038555	0.95[ASN][1000 genomes]
rs12040492	0.95[ASN][1000 genomes]
rs12074192	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12075289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087098	0.87[ASN][1000 genomes]
rs12135746	0.93[ASN][1000 genomes]
rs12405742	0.90[ASN][1000 genomes]
rs12408694	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12760321	0.91[ASN][1000 genomes]
rs1284853	1.00[CEU][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]
rs1390501	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs15903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359323	0.93[ASN][1000 genomes]
rs2359326	0.98[ASN][1000 genomes]
rs2644549	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2792562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951650	0.93[ASN][1000 genomes]
rs4951651	0.93[ASN][1000 genomes]
rs58128459	1.00[ASN][1000 genomes]
rs6663574	0.91[ASN][1000 genomes]
rs6671740	0.84[ASN][1000 genomes]
rs6674782	0.84[ASN][1000 genomes]
rs6679775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6682947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6683314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6697099	0.91[ASN][1000 genomes]
rs6697126	1.00[ASN][1000 genomes]
rs6701782	0.93[ASN][1000 genomes]
rs7530057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9429894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213043200-213073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:213047000-213073600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:213052800-213073400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:213053400-213073800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:213055000-213073600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:213056200-213074200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr1:213056400-213073400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:213056600-213073600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:213057000-213073400	Strong transcription	Fetal Intestine Large	intestine
10	chr1:213057600-213075000	Weak transcription	Right Ventricle	heart
11	chr1:213058000-213073400	Strong transcription	A549	lung
12	chr1:213059400-213073600	Strong transcription	Primary T cells from cord blood	blood
13	chr1:213062400-213073400	Weak transcription	Psoas Muscle	Psoas
14	chr1:213062600-213075000	Weak transcription	Thymus	Thymus
15	chr1:213063600-213074800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:213065400-213073800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:213066400-213075400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:213067400-213074800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:213067800-213073400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:213067800-213073400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:213067800-213073600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:213067800-213073600	Strong transcription	Dnd41	blood
23	chr1:213067800-213076000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:213068400-213073600	Strong transcription	HSMM	muscle
25	chr1:213068400-213074800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:213069200-213073400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:213069200-213074800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:213069400-213074000	Weak transcription	Fetal Heart	heart
29	chr1:213069800-213073600	Weak transcription	HUVEC	blood vessel
30	chr1:213069800-213074400	Weak transcription	HepG2	liver
31	chr1:213070000-213073400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:213070000-213073600	Weak transcription	K562	blood
33	chr1:213070000-213073600	Weak transcription	NHLF	lung
34	chr1:213070000-213074400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:213070000-213076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:213070800-213073400	Strong transcription	Fetal Kidney	kidney
37	chr1:213070800-213073800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:213070800-213074400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:213071000-213073400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:213071400-213075000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:213071600-213073400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:213071800-213073400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:213071800-213073400	Strong transcription	Fetal Brain Female	brain
44	chr1:213072000-213073800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr1:213072000-213073800	ZNF genes & repeats	GM12878-XiMat	blood
46	chr1:213072000-213074200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:213072200-213074800	Weak transcription	HMEC	breast
48	chr1:213072200-213077000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr1:213072400-213073600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:213072400-213073800	Strong transcription	Fetal Brain Male	brain

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