Variant report

Variant	rs58182983
Chromosome Location	chr2:112817458-112817459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
2	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
3	chr2:112767436..112770076-chr2:112815782..112818698,2	K562	blood:
4	chr2:112811708..112814423-chr2:112815526..112819270,5	K562	blood:
5	chr2:112815378..112818291-chr2:112847520..112849051,2	MCF-7	breast:

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];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848982	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157784	0.94[ASN][1000 genomes]
rs62157785	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157786	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157789	1.00[AFR][1000 genomes];0.98[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];0.94[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
rs58182983	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	chr2:112814600-112819000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:112814600-112819400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:112814600-112819400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:112814600-112820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:112814600-112820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:112814600-112821600	Weak transcription	Fetal Brain Female	brain
15	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:112814800-112817600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:112814800-112818600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:112814800-112818600	Weak transcription	Liver	Liver
19	chr2:112814800-112818600	Weak transcription	Fetal Kidney	kidney
20	chr2:112814800-112818800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:112814800-112819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:112814800-112819400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:112814800-112820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:112814800-112823800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:112814800-112832200	Weak transcription	A549	lung
27	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
28	chr2:112815000-112818400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:112815000-112818600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:112815000-112818800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:112815000-112819200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:112815000-112819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:112815000-112822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:112815000-112824000	Weak transcription	Brain Germinal Matrix	brain
35	chr2:112815200-112818400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:112815200-112818800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:112815200-112818800	Weak transcription	Dnd41	blood
38	chr2:112815200-112820600	Weak transcription	Adipose Nuclei	Adipose
39	chr2:112815200-112822200	Weak transcription	Pancreas	Pancrea
40	chr2:112815200-112823200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:112815200-112823600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:112815200-112823600	Weak transcription	Fetal Brain Male	brain
43	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
44	chr2:112815400-112818800	Weak transcription	Fetal Lung	lung
45	chr2:112815800-112817800	Strong transcription	Primary B cells from cord blood	blood
46	chr2:112815800-112822600	Strong transcription	HSMM	muscle
47	chr2:112816000-112817600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:112816000-112817600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:112816000-112817800	Strong transcription	NHEK	skin
50	chr2:112816000-112818600	Weak transcription	HepG2	liver

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