Variant report

Variant	rs4297843
Chromosome Location	chr2:20187360-20187361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20100581..20103342-chr2:20187181..20189808,2	K562	blood:
2	chr2:20187189..20189541-chr2:20212582..20214933,2	K562	blood:
3	chr2:20100581..20103350-chr2:20187181..20189808,3	K562	blood:
4	chr2:20187273..20189318-chr2:20295101..20297253,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10165128	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10187524	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10190308	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10191437	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10197369	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10495700	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12477955	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12478934	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12612708	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616917	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1370587	0.87[EUR][1000 genomes]
rs1437859	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1947730	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2045779	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242192	0.83[AMR][1000 genomes]
rs28401180	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28598872	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3820949	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6721864	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6736663	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6741091	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7569975	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7572536	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7575732	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7584726	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604699	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1005431	chr2:20174676-20210163	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
4	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:20138200-20188800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:20145200-20188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:20162400-20188200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:20163200-20188800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:20164200-20187800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:20164600-20189000	Weak transcription	Placenta	Placenta
17	chr2:20164800-20189000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:20165000-20188400	Weak transcription	K562	blood
19	chr2:20165400-20187600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:20165800-20188200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:20169000-20188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:20169000-20189000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:20169200-20188800	Weak transcription	Right Ventricle	heart
24	chr2:20171800-20187800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:20172000-20188800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:20174000-20188800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:20174000-20189000	Weak transcription	Fetal Intestine Small	intestine
28	chr2:20174200-20189400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:20174400-20188800	Weak transcription	Fetal Stomach	stomach
30	chr2:20174400-20189200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:20174800-20189200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:20175200-20188800	Weak transcription	Adipose Nuclei	Adipose
33	chr2:20175200-20188800	Weak transcription	Liver	Liver
34	chr2:20175800-20188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:20177000-20188000	Weak transcription	Thymus	Thymus
36	chr2:20177200-20188800	Weak transcription	HSMMtube	muscle
37	chr2:20177800-20187800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:20177800-20187800	Weak transcription	Fetal Brain Female	brain
39	chr2:20177800-20188200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:20177800-20188200	Weak transcription	Fetal Brain Male	brain
41	chr2:20177800-20188400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:20177800-20188800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:20177800-20189000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:20178000-20187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:20178000-20187800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:20178000-20187800	Weak transcription	HMEC	breast
47	chr2:20178000-20188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:20178000-20188600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:20178000-20188800	Weak transcription	Primary T cells from cord blood	blood
50	chr2:20178000-20188800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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