Variant report

Variant	rs2940085
Chromosome Location	chr1:212973330-212973331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212973105..212975746-chr1:212981833..212983410,2	K562	blood:
2	chr1:212963881..212969695-chr1:212970420..212976060,10	K562	blood:
3	chr1:212956561..212959234-chr1:212973278..212975035,2	K562	blood:
4	chr1:212967889..212970692-chr1:212972432..212975770,4	K562	blood:
5	chr1:212973285..212975670-chr1:212976660..212979565,2	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11119999	1.00[MEX][hapmap];0.87[YRI][hapmap]
rs11120004	0.80[AFR][1000 genomes]
rs1284857	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1284858	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1284859	0.88[AMR][1000 genomes]
rs1284861	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1296068	0.80[EUR][1000 genomes]
rs1472845	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1692181	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1692185	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1770775	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1770776	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2252377	0.83[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes]
rs2262891	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2487264	0.94[AMR][1000 genomes]
rs2487265	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2644546	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2644550	0.88[EUR][1000 genomes]
rs2792559	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994522	0.92[EUR][1000 genomes]
rs3006241	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs57046861	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74138619	0.85[AFR][1000 genomes]
rs931591	0.88[AMR][1000 genomes]
rs9430103	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9430104	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9430105	1.00[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	esv3453757	chr1:212972733-212973587	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3447428	chr1:212972768-212973722	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3453756	chr1:212972788-212973802	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212974800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212966000-212981200	Weak transcription	Esophagus	oesophagus
4	chr1:212966000-212983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
6	chr1:212966200-212973800	Weak transcription	Colonic Mucosa	Colon
7	chr1:212966200-212975600	Weak transcription	HMEC	breast
8	chr1:212966200-212979800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:212966400-212977400	Weak transcription	Hela-S3	cervix
10	chr1:212966400-212984000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:212966400-212985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:212966400-212988200	Weak transcription	Fetal Heart	heart
13	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
14	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
15	chr1:212966800-212977600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
17	chr1:212967000-212979000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:212967000-212984400	Weak transcription	Spleen	Spleen
19	chr1:212967200-212975400	Weak transcription	HSMM	muscle
20	chr1:212967200-212984000	Weak transcription	NHDF-Ad	bronchial
21	chr1:212967200-212988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:212967200-212989600	Weak transcription	NHLF	lung
24	chr1:212968000-212980000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:212968000-212987400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:212968400-212974400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:212968400-212988000	Weak transcription	Stomach Mucosa	stomach
28	chr1:212968600-212980200	Weak transcription	HUVEC	blood vessel
29	chr1:212968800-212974600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:212969000-212973400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:212969000-212973800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:212969000-212975400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:212969000-212976200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:212969000-212976400	Strong transcription	Liver	Liver
35	chr1:212969000-212980000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212969000-212980000	Strong transcription	Dnd41	blood
37	chr1:212969000-212982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212969000-212982600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:212969000-212983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:212969200-212973400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:212969200-212976200	Strong transcription	Fetal Thymus	thymus
42	chr1:212969400-212978600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:212969600-212989000	Weak transcription	HepG2	liver
44	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:212969800-212975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:212970000-212973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:212970000-212975600	Strong transcription	Brain Angular Gyrus	brain
48	chr1:212970000-212976200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:212970000-212976200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:212970200-212973400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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