Variant report

Variant	rs72888444
Chromosome Location	chr2:183874227-183874228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183797327..183799233-chr2:183873763..183876120,2	K562	blood:
2	chr2:183871842..183874832-chr2:183902192..183904474,2	K562	blood:
3	chr2:183873015..183875784-chr2:183902165..183903917,2	MCF-7	breast:
4	chr2:183871994..183874914-chr2:183897971..183902484,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17265880	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675089	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35142583	0.84[AFR][1000 genomes]
rs66727515	0.91[EUR][1000 genomes]
rs6711655	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6734848	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6739840	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72886535	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72886536	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72886547	0.84[AFR][1000 genomes]
rs72886597	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888452	0.92[AFR][1000 genomes]
rs72888453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888467	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888485	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888487	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7575613	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7595898	0.84[AFR][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	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
2	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
3	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:183812200-183874800	Weak transcription	Gastric	stomach
5	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
6	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
10	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:183842400-183874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:183846000-183902000	Weak transcription	Lung	lung
14	chr2:183852600-183874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:183853000-183874800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:183853200-183874800	Weak transcription	Right Atrium	heart
17	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
18	chr2:183855600-183874800	Weak transcription	Hela-S3	cervix
19	chr2:183858400-183874800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:183858400-183874800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:183859600-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:183861000-183874800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
25	chr2:183863000-183874800	Weak transcription	Ovary	ovary
26	chr2:183864800-183874400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:183865000-183874400	Weak transcription	A549	lung
28	chr2:183865000-183874800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:183865400-183876600	Weak transcription	HMEC	breast
30	chr2:183865800-183874800	Weak transcription	Small Intestine	intestine
31	chr2:183866000-183874400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:183866000-183874400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:183866000-183874800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:183866000-183874800	Weak transcription	Fetal Stomach	stomach
35	chr2:183866000-183874800	Weak transcription	NHEK	skin
36	chr2:183866000-183878000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:183866000-183881400	Weak transcription	HUVEC	blood vessel
38	chr2:183866000-183881800	Weak transcription	Brain Germinal Matrix	brain
39	chr2:183866200-183874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:183866200-183874800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:183866200-183874800	Weak transcription	HSMMtube	muscle
42	chr2:183866200-183874800	Weak transcription	NHLF	lung
43	chr2:183866200-183881400	Weak transcription	Fetal Intestine Large	intestine
44	chr2:183866600-183874800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:183866800-183874800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:183866800-183874800	Weak transcription	NH-A	brain
47	chr2:183866800-183881400	Weak transcription	Fetal Brain Female	brain
48	chr2:183866800-183881600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:183866800-183885400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung

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