Variant report

Variant	rs2684822
Chromosome Location	chr18:44665618-44665619
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44664428..44666267-chr18:44672303..44675573,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12960378	0.82[ASN][1000 genomes]
rs12960444	0.88[ASN][1000 genomes]
rs12963648	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12964465	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2251948	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2277717	0.84[AMR][1000 genomes]
rs2571001	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2571009	1.00[ASN][1000 genomes]
rs2571016	1.00[ASN][1000 genomes]
rs2576030	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2576031	0.82[ASN][1000 genomes]
rs2576053	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2576056	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2576060	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2635040	0.82[ASN][1000 genomes]
rs2635041	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2635042	0.82[ASN][1000 genomes]
rs2635043	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2635045	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635047	0.91[ASN][1000 genomes]
rs2635049	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2635050	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2684818	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2684820	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2684825	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2684826	0.82[ASN][1000 genomes]
rs28702976	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2932126	0.96[ASN][1000 genomes]
rs7242978	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304341	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
3	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
4	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
5	chr18:44636200-44670600	Weak transcription	Pancreas	Pancrea
6	chr18:44639600-44666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:44641600-44670400	Weak transcription	HepG2	liver
9	chr18:44641600-44674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:44641600-44675800	Weak transcription	Lung	lung
11	chr18:44641800-44674400	Weak transcription	Aorta	Aorta
12	chr18:44641800-44675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:44641800-44675400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:44642000-44675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:44642200-44674600	Weak transcription	NHEK	skin
18	chr18:44645600-44667600	Weak transcription	HSMMtube	muscle
19	chr18:44647800-44675800	Weak transcription	Ovary	ovary
20	chr18:44650400-44670800	Weak transcription	Right Ventricle	heart
21	chr18:44653400-44668600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:44655800-44670000	Weak transcription	Fetal Heart	heart
23	chr18:44656400-44675200	Weak transcription	Thymus	Thymus
24	chr18:44656800-44670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr18:44656800-44675000	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:44656800-44675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:44660200-44667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr18:44661200-44668200	Weak transcription	Psoas Muscle	Psoas
29	chr18:44661200-44675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:44661400-44673600	Weak transcription	NHLF	lung
31	chr18:44661400-44674800	Weak transcription	Brain Substantia Nigra	brain
32	chr18:44661400-44675400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr18:44661400-44675600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:44661600-44670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:44661600-44674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr18:44661600-44675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:44661600-44675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:44661800-44669600	Weak transcription	Left Ventricle	heart
39	chr18:44662200-44675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:44662400-44669800	Weak transcription	Fetal Thymus	thymus
41	chr18:44662400-44672400	Weak transcription	Fetal Brain Male	brain
42	chr18:44662600-44671400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr18:44662600-44673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr18:44662600-44675200	Weak transcription	Hela-S3	cervix
45	chr18:44662800-44666000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:44662800-44670000	Weak transcription	K562	blood
47	chr18:44662800-44673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:44662800-44674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr18:44662800-44674800	Weak transcription	Adipose Nuclei	Adipose
50	chr18:44662800-44675000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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