Variant report

Variant	rs4848982
Chromosome Location	chr2:112819016-112819017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
2	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
3	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
4	chr2:112811708..112814423-chr2:112815526..112819270,5	K562	blood:

Variant related genes	Relation type
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34132287	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34589210	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34853608	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34889979	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35049941	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35671911	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57706057	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58122407	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58182983	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58552130	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59667312	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157782	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157784	0.94[ASN][1000 genomes]
rs62157785	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157786	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157792	0.88[ASN][1000 genomes]
rs62157795	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710189	0.89[ASN][1000 genomes]
rs6727484	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728297	0.83[ASN][1000 genomes]
rs7567461	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4848982	TMEM87B	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
3	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:112814400-112820400	Weak transcription	Aorta	Aorta
7	chr2:112814400-112821400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:112814600-112819400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:112814600-112819400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:112814600-112820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:112814600-112820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:112814600-112821600	Weak transcription	Fetal Brain Female	brain
14	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:112814800-112819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:112814800-112819400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:112814800-112820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:112814800-112823800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:112814800-112832200	Weak transcription	A549	lung
21	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
22	chr2:112815000-112819200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:112815000-112819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:112815000-112822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:112815000-112824000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:112815200-112820600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:112815200-112822200	Weak transcription	Pancreas	Pancrea
28	chr2:112815200-112823200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:112815200-112823600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:112815200-112823600	Weak transcription	Fetal Brain Male	brain
31	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
32	chr2:112815800-112822600	Strong transcription	HSMM	muscle
33	chr2:112816000-112819400	Weak transcription	HMEC	breast
34	chr2:112816000-112820200	Weak transcription	Thymus	Thymus
35	chr2:112816000-112825000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:112816200-112819600	Genic enhancers	Fetal Intestine Small	intestine
38	chr2:112816200-112821000	Weak transcription	NHLF	lung
39	chr2:112816400-112819400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:112816400-112822200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:112816400-112823000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
44	chr2:112816600-112819400	Weak transcription	Lung	lung
45	chr2:112816600-112820200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:112816600-112820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:112816600-112820200	Weak transcription	Ovary	ovary
48	chr2:112816600-112820600	Weak transcription	Left Ventricle	heart
49	chr2:112816600-112820600	Weak transcription	Spleen	Spleen
50	chr2:112816600-112820800	Weak transcription	Gastric	stomach

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