Variant report

Variant	rs16823974
Chromosome Location	chr2:183946717-183946718
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	chr2:183945846..183948149-chr2:183954335..183956849,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10165922	0.80[ASN][1000 genomes]
rs10170163	0.83[ASN][1000 genomes]
rs10174477	0.80[ASN][1000 genomes]
rs10183561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10200193	0.81[ASN][1000 genomes]
rs10460315	0.85[ASN][1000 genomes]
rs11682917	0.82[EUR][1000 genomes]
rs11692613	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12463411	0.85[ASN][1000 genomes]
rs12693331	0.92[ASN][1000 genomes]
rs13399265	0.85[ASN][1000 genomes]
rs13419900	0.80[ASN][1000 genomes]
rs1400132	1.00[CEU][hapmap]
rs1462534	0.85[AMR][1000 genomes]
rs16823717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823723	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16823967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16823970	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823971	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16824001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824018	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824025	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824033	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824048	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824058	0.85[AMR][1000 genomes]
rs16824059	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824095	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824106	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1812647	0.85[ASN][1000 genomes]
rs1882440	0.80[ASN][1000 genomes]
rs2017742	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2138482	0.85[ASN][1000 genomes]
rs2138484	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2138485	0.90[ASN][1000 genomes]
rs2176228	0.82[ASN][1000 genomes]
rs2176232	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2247840	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2368335	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2368354	0.84[ASN][1000 genomes]
rs2368372	0.82[EUR][1000 genomes]
rs2368373	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2675117	1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[ASN][1000 genomes]
rs2705714	0.87[ASN][1000 genomes]
rs2944346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2952345	1.00[JPT][hapmap]
rs3748879	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748881	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3748882	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3762476	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3791247	0.80[CEU][hapmap]
rs4597478	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4666607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4666611	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4666612	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4666885	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4666887	0.82[ASN][1000 genomes]
rs4666892	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4666896	0.85[AMR][1000 genomes]
rs4666898	0.85[AMR][1000 genomes]
rs55942934	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56271556	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59041013	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61283216	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61526412	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6742203	0.92[ASN][1000 genomes]
rs73035651	1.00[ASN][1000 genomes]
rs73036601	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867340	0.82[ASN][1000 genomes]
rs925805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9333281	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9333283	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183944400-183946800	Weak transcription	Pancreas	Pancrea
2	chr2:183944600-183954000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:183944600-183955400	Weak transcription	Psoas Muscle	Psoas
4	chr2:183944600-183957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:183944800-183956000	Weak transcription	Liver	Liver
7	chr2:183944800-183956000	Weak transcription	Right Ventricle	heart
8	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:183945000-183946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:183945000-183946800	Weak transcription	Fetal Brain Female	brain
12	chr2:183945000-183948800	Weak transcription	Ovary	ovary
13	chr2:183945000-183954000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:183945000-183956000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:183945000-183960200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
17	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:183945000-183963400	Weak transcription	Fetal Stomach	stomach
20	chr2:183945400-183952000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:183945600-183948400	Weak transcription	Aorta	Aorta
22	chr2:183945600-183952200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:183945600-183960800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:183945600-183964000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:183945800-183946800	Weak transcription	K562	blood
26	chr2:183945800-183951800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:183946200-183946800	Enhancers	Fetal Heart	heart
29	chr2:183946400-183947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:183946400-183947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:183946400-183947000	Enhancers	Osteobl	bone
32	chr2:183946400-183947200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:183946400-183947200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:183946600-183946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:183946600-183946800	Enhancers	Stomach Mucosa	stomach
36	chr2:183946600-183946800	Enhancers	NH-A	brain
37	chr2:183946600-183947000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:183946600-183947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:183946600-183947000	Enhancers	HSMMtube	muscle

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