Variant report

Variant	rs12921782
Chromosome Location	chr16:69780022-69780023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69745256..69747417-chr16:69779040..69781311,2	MCF-7	breast:
2	chr16:69743401..69745074-chr16:69780018..69781827,2	MCF-7	breast:
3	chr16:69760962..69763485-chr16:69779702..69781778,2	K562	blood:
4	chr16:69755773..69764501-chr16:69767489..69780977,30	MCF-7	breast:
5	chr16:69757842..69766785-chr16:69777221..69785696,15	K562	blood:

Variant related genes	Relation type
ENSG00000262136	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000261602	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12448499	0.81[ASN][1000 genomes]
rs12596945	0.94[ASN][1000 genomes]
rs12918548	0.81[ASN][1000 genomes]
rs12924052	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933210	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1469908	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1837016	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2917670	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2917671	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2917678	0.99[ASN][1000 genomes]
rs2965749	0.99[ASN][1000 genomes]
rs3811348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45488899	0.83[ASN][1000 genomes]
rs4985522	0.82[ASN][1000 genomes]
rs55780735	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6499251	0.85[ASN][1000 genomes]
rs7186296	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12921782	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
2	chr16:69770400-69788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69771800-69781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:69771800-69786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:69772600-69786400	Strong transcription	Fetal Stomach	stomach
6	chr16:69772800-69786400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:69773000-69781400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:69773000-69783000	Strong transcription	HepG2	liver
9	chr16:69773000-69783400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:69773000-69783400	Strong transcription	Primary T cells from cord blood	blood
11	chr16:69773000-69785600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr16:69773000-69786000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:69773000-69786000	Strong transcription	Thymus	Thymus
14	chr16:69773000-69786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:69773000-69786200	Strong transcription	Fetal Brain Female	brain
16	chr16:69773000-69786200	Strong transcription	Dnd41	blood
17	chr16:69773000-69786400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:69773000-69786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:69773000-69786600	Strong transcription	Fetal Thymus	thymus
20	chr16:69773000-69786800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:69773000-69787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:69773000-69787000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:69773000-69787000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:69773000-69787000	Strong transcription	Fetal Muscle Leg	muscle
25	chr16:69773000-69787200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:69773200-69780400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:69773200-69780400	Strong transcription	HSMMtube	muscle
28	chr16:69773200-69780800	Strong transcription	Primary B cells from cord blood	blood
29	chr16:69773200-69785200	Strong transcription	Spleen	Spleen
30	chr16:69773200-69785600	Strong transcription	Brain Germinal Matrix	brain
31	chr16:69773200-69785800	Strong transcription	Pancreas	Pancrea
32	chr16:69773200-69786000	Strong transcription	GM12878-XiMat	blood
33	chr16:69773200-69786800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:69773400-69785800	Strong transcription	Fetal Lung	lung
35	chr16:69773400-69786200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:69773600-69786400	Strong transcription	K562	blood
37	chr16:69773800-69785800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:69773800-69786000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:69773800-69786200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr16:69773800-69786200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:69773800-69786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:69773800-69786400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr16:69773800-69786600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:69773800-69786600	Strong transcription	HSMM	muscle
45	chr16:69773800-69786800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:69774000-69783400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr16:69774000-69785800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:69774000-69786200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr16:69774000-69786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:69774000-69786200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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