Variant report

Variant	rs6727484
Chromosome Location	chr2:112815002-112815003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
2	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
3	chr2:112643670..112645263-chr2:112814283..112816428,2	MCF-7	breast:
4	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
5	chr2:112813790..112815365-chr2:112920509..112922091,2	K562	blood:

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 32 )
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	0.96[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	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848982	0.96[AFR][1000 genomes];0.96[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]
rs58182983	0.96[AFR][1000 genomes];0.94[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62157784	0.94[ASN][1000 genomes]
rs62157785	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157786	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157789	0.96[AFR][1000 genomes];0.96[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]
rs6728297	0.83[ASN][1000 genomes]
rs7567461	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6727484	TMEM87B	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112812800-112815200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:112814000-112815200	Flanking Active TSS	HUVEC	blood vessel
3	chr2:112814000-112817400	Enhancers	Small Intestine	intestine
4	chr2:112814200-112815200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:112814200-112815400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:112814200-112816400	Weak transcription	Esophagus	oesophagus
7	chr2:112814200-112816600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:112814200-112817000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:112814200-112817000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:112814200-112817200	Enhancers	Stomach Mucosa	stomach
11	chr2:112814200-112821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
13	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:112814400-112815200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:112814400-112815200	Enhancers	Pancreas	Pancrea
18	chr2:112814400-112816200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:112814400-112816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:112814400-112816600	Enhancers	Gastric	stomach
21	chr2:112814400-112816600	Enhancers	Ovary	ovary
22	chr2:112814400-112817400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:112814400-112820400	Weak transcription	Aorta	Aorta
24	chr2:112814400-112821400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:112814600-112815200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:112814600-112815200	Enhancers	Colonic Mucosa	Colon
28	chr2:112814600-112815200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:112814600-112815200	Enhancers	Fetal Thymus	thymus
30	chr2:112814600-112815200	Enhancers	Dnd41	blood
31	chr2:112814600-112815400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:112814600-112816000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:112814600-112816000	Enhancers	HepG2	liver
34	chr2:112814600-112816400	Enhancers	Right Ventricle	heart
35	chr2:112814600-112816600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:112814600-112816600	Enhancers	Left Ventricle	heart
37	chr2:112814600-112817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:112814600-112817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:112814600-112819000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:112814600-112819400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:112814600-112819400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:112814600-112820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:112814600-112820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:112814600-112821600	Weak transcription	Fetal Brain Female	brain
45	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:112814800-112815200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:112814800-112815200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:112814800-112815200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:112814800-112815200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:112814800-112815200	Enhancers	Adipose Nuclei	Adipose

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