Variant report

Variant	rs12103052
Chromosome Location	chr16:81384676-81384677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81339016..81342551-chr16:81382542..81385730,3	MCF-7	breast:
2	chr16:81381387..81384964-chr16:81385741..81388867,5	K562	blood:
3	chr16:81381387..81385191-chr16:81386059..81389530,5	K562	blood:
4	chr16:81348167..81351482-chr16:81382300..81384779,4	MCF-7	breast:
5	chr16:81384234..81386036-chr16:81388157..81390233,2	MCF-7	breast:
6	chr16:81383148..81385545-chr16:81392228..81393916,3	MCF-7	breast:
7	chr16:81343775..81345598-chr16:81381932..81384912,2	MCF-7	breast:
8	chr16:81327170..81331013-chr16:81381065..81384742,3	MCF-7	breast:
9	chr16:81299764..81301490-chr16:81383537..81384858,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12448813	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12920172	0.84[CHD][hapmap];0.81[YRI][hapmap]
rs12921222	1.00[CEU][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12925218	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12927652	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12927943	0.89[JPT][hapmap]
rs12929924	0.92[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12933277	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12934500	0.92[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1564116	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16955063	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1820260	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35151165	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4888145	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4889309	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6564872	0.92[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs7194094	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7199407	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7199797	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7203482	0.88[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7203835	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs729181	0.92[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs8051314	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8055288	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8064146	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921359	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9922086	0.92[CEU][hapmap];0.83[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9934557	0.84[JPT][hapmap]
rs9938148	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	esv1792674	chr16:81375316-81391868	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12103052	MYOT	trans	parietal	SCAN
rs12103052	GAN	cis	cerebellum	SCAN
rs12103052	GAN	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:81380600-81388000	Weak transcription	Lung	lung
5	chr16:81380600-81396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81381000-81385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:81381000-81392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:81381200-81385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:81381200-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:81381200-81385200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:81381200-81387600	Weak transcription	HepG2	liver
12	chr16:81381200-81388000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:81381200-81388000	Weak transcription	HMEC	breast
14	chr16:81381200-81390200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:81381200-81390400	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81381200-81391000	Weak transcription	Osteobl	bone
17	chr16:81381200-81396000	Weak transcription	Right Ventricle	heart
18	chr16:81381400-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:81381400-81385400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:81381800-81385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:81381800-81387200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:81382000-81387200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr16:81382000-81388600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr16:81382200-81385200	Weak transcription	Primary B cells from cord blood	blood
25	chr16:81382200-81385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:81382200-81385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:81382200-81388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:81382200-81390200	Weak transcription	NHEK	skin
29	chr16:81382200-81391400	Weak transcription	Fetal Heart	heart
30	chr16:81382400-81385200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:81382400-81385400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:81382400-81385400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:81382400-81385400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr16:81382400-81385400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:81382400-81385400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr16:81382400-81388600	Weak transcription	Aorta	Aorta
37	chr16:81382400-81390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:81382400-81390400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:81382400-81391400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:81382400-81396200	Weak transcription	Pancreas	Pancrea
41	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
42	chr16:81382600-81385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:81382600-81385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81382600-81385200	Weak transcription	Fetal Intestine Large	intestine
45	chr16:81382600-81385200	Weak transcription	K562	blood
46	chr16:81382600-81385400	Weak transcription	Liver	Liver
47	chr16:81382600-81385400	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:81382600-81385800	Weak transcription	Primary T cells from cord blood	blood
49	chr16:81382600-81387200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:81382600-81388200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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