Variant report

Variant	rs2306818
Chromosome Location	chr11:73679232-73679233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
2	POLR2A	chr11:73679017-73681824	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73677358..73679937-chr11:73818176..73820385,2	MCF-7	breast:
2	chr11:73679005..73682645-chr11:73778281..73782136,5	MCF-7	breast:
3	chr11:73678390..73681142-chr11:73802316..73803896,2	MCF-7	breast:
4	chr11:73669237..73671943-chr11:73677698..73679485,2	K562	blood:

Variant related genes	Relation type
ENSG00000255847	TF binding region
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11235964	0.82[ASN][1000 genomes]
rs15763	0.81[MEX][hapmap]
rs1685354	0.81[MEX][hapmap]
rs17132517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200614	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2306817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816824	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56007494	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282097	0.90[ASN][1000 genomes]
rs58125455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668514	0.86[MEX][hapmap]
rs72982970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982971	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982975	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982981	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2306818	MRPL48	cis	cerebellum	SCAN
rs2306818	UCP2	cis	multi-tissue	Pritchard
rs2306818	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs2306818	PPME1	cis	cerebellum	SCAN
rs2306818	UCP2	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73669800-73681000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:73672800-73684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:73672800-73684800	Weak transcription	HSMM	muscle
5	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73674000-73685000	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:73674600-73684200	Weak transcription	Right Atrium	heart
8	chr11:73675000-73680200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:73675200-73684400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:73675200-73685400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
12	chr11:73675800-73680400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73675800-73681200	Weak transcription	Dnd41	blood
14	chr11:73675800-73683800	Weak transcription	GM12878-XiMat	blood
15	chr11:73675800-73685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:73675800-73685400	Weak transcription	Fetal Brain Female	brain
17	chr11:73676000-73681000	Weak transcription	Thymus	Thymus
18	chr11:73676000-73684200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:73676000-73684200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:73676000-73684400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr11:73676000-73685000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:73676000-73685400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:73676000-73685600	Weak transcription	HepG2	liver
24	chr11:73676000-73686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:73676000-73686200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:73676000-73686200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:73676000-73686400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:73676000-73687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:73676200-73679800	Weak transcription	Fetal Thymus	thymus
30	chr11:73676200-73680800	Weak transcription	K562	blood
31	chr11:73676200-73681200	Weak transcription	Stomach Mucosa	stomach
32	chr11:73676200-73682600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:73676200-73685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:73676200-73685000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73676200-73685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:73676200-73685400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:73676200-73687600	Weak transcription	Brain Angular Gyrus	brain
38	chr11:73676400-73681000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:73676400-73685400	Weak transcription	Hela-S3	cervix
40	chr11:73676400-73685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:73676600-73680800	Weak transcription	HSMMtube	muscle
43	chr11:73676600-73682400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:73676600-73684600	Weak transcription	A549	lung
45	chr11:73676600-73684800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:73676600-73685200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73676600-73685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:73676600-73685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
50	chr11:73677400-73679400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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