Variant report

Variant	rs8047803
Chromosome Location	chr16:31079834-31079835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31078895..31081400-chr16:31190297..31191808,2	K562	blood:
2	chr16:31072008..31074728-chr16:31079249..31080885,2	K562	blood:
3	chr16:31074637..31077329-chr16:31077979..31080550,2	K562	blood:
4	chr16:31076302..31081402-chr16:31082512..31087316,9	K562	blood:
5	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
6	chr16:31044216..31046545-chr16:31079220..31081435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000232748	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000261124	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1060506	0.95[ASN][1000 genomes]
rs10871454	0.85[ASN][1000 genomes]
rs1108431	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11150604	0.89[ASN][1000 genomes]
rs11640767	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11640957	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642003	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11642192	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647284	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647442	0.95[ASN][1000 genomes]
rs11862744	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864806	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864839	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865038	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865499	0.95[ASN][1000 genomes]
rs12445650	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12448321	0.89[ASN][1000 genomes]
rs12597511	0.93[ASN][1000 genomes]
rs12716981	0.95[ASN][1000 genomes]
rs12716982	0.95[ASN][1000 genomes]
rs12934418	0.89[ASN][1000 genomes]
rs14235	0.95[ASN][1000 genomes]
rs1549293	0.95[ASN][1000 genomes]
rs17839567	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17839568	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978485	0.95[ASN][1000 genomes]
rs1978487	0.95[ASN][1000 genomes]
rs2032915	0.95[ASN][1000 genomes]
rs2288004	0.89[ASN][1000 genomes]
rs2303222	1.00[ASN][1000 genomes]
rs2303223	0.98[ASN][1000 genomes]
rs2359612	1.00[ASN][1000 genomes]
rs2855475	0.95[ASN][1000 genomes]
rs28725459	0.91[ASN][1000 genomes]
rs28814987	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884738	0.95[ASN][1000 genomes]
rs34649473	0.85[ASN][1000 genomes]
rs35351013	0.93[ASN][1000 genomes]
rs35468353	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35713203	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961830	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3751855	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527034	0.95[ASN][1000 genomes]
rs4889526	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889530	0.87[ASN][1000 genomes]
rs4889609	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889619	0.84[ASN][1000 genomes]
rs4889620	0.95[ASN][1000 genomes]
rs55766044	0.95[ASN][1000 genomes]
rs55979739	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56284083	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56314408	0.95[ASN][1000 genomes]
rs56813533	0.93[ASN][1000 genomes]
rs57434408	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57576577	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58726213	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59061704	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59735493	0.95[ASN][1000 genomes]
rs60996860	0.91[ASN][1000 genomes]
rs61162043	1.00[ASN][1000 genomes]
rs61320757	0.95[ASN][1000 genomes]
rs6565217	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187995	0.93[ASN][1000 genomes]
rs7196161	1.00[ASN][1000 genomes]
rs7196726	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197717	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199949	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732172	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs732173	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73530203	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749670	1.00[ASN][1000 genomes]
rs749671	1.00[ASN][1000 genomes]
rs749767	0.95[ASN][1000 genomes]
rs7500176	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs750952	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050894	1.00[ASN][1000 genomes]
rs8056842	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8061047	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs881929	1.00[ASN][1000 genomes]
rs889548	0.95[ASN][1000 genomes]
rs889555	0.95[ASN][1000 genomes]
rs9673641	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9923231	1.00[ASN][1000 genomes]
rs9925964	0.95[ASN][1000 genomes]
rs9929899	0.86[ASN][1000 genomes]
rs9934438	1.00[ASN][1000 genomes]
rs9936329	0.95[ASN][1000 genomes]
rs9939417	0.89[ASN][1000 genomes]
rs9939558	0.89[ASN][1000 genomes]
rs9972727	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
7	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
8	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
11	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs8047803	STX1B	cis	Thyroid	GTEx
rs8047803	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs8047803	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs8047803	RP11-196G11.2	cis	Esophagus Muscularis	GTEx
rs8047803	RP11-196G11.2	cis	lung	GTEx
rs8047803	HSD3B7	cis	Muscle Skeletal	GTEx
rs8047803	HSD3B7	cis	Esophagus Mucosa	GTEx
rs8047803	KAT8	cis	Artery Tibial	GTEx
rs8047803	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs8047803	STX4	Cis_1M	lymphoblastoid	RTeQTL
rs8047803	KAT8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
2	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
3	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
5	chr16:31070400-31082600	Weak transcription	Fetal Brain Male	brain
6	chr16:31073600-31082800	Weak transcription	HepG2	liver
7	chr16:31073600-31083000	Weak transcription	Small Intestine	intestine
8	chr16:31073600-31083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:31073600-31083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:31073600-31083200	Weak transcription	Brain Substantia Nigra	brain
11	chr16:31073800-31083400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr16:31075400-31084000	Weak transcription	Ovary	ovary
13	chr16:31075600-31082800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:31075600-31083000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:31075600-31083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:31075600-31083000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:31075600-31083000	Weak transcription	Brain Angular Gyrus	brain
18	chr16:31075600-31083000	Weak transcription	Brain Anterior Caudate	brain
19	chr16:31075600-31083000	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:31075600-31083000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:31075600-31083200	Weak transcription	Liver	Liver
22	chr16:31075600-31083400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:31075600-31083600	Weak transcription	Gastric	stomach
24	chr16:31075600-31083800	Weak transcription	Aorta	Aorta
25	chr16:31075800-31080200	Weak transcription	Pancreas	Pancrea
26	chr16:31075800-31082600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:31075800-31082800	Weak transcription	Fetal Brain Female	brain
28	chr16:31075800-31083000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:31075800-31083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:31075800-31083000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:31075800-31083000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:31075800-31083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:31075800-31083200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr16:31075800-31083400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:31075800-31083400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:31075800-31083400	Weak transcription	Fetal Intestine Large	intestine
37	chr16:31076000-31080200	Weak transcription	Dnd41	blood
38	chr16:31076000-31082800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:31076200-31082800	Weak transcription	Thymus	Thymus
40	chr16:31076200-31083000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:31076400-31083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:31076400-31083000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:31076400-31083200	Weak transcription	Fetal Intestine Small	intestine
44	chr16:31076600-31082800	Weak transcription	K562	blood
45	chr16:31076600-31083000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:31076600-31083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:31076800-31082800	Weak transcription	Adipose Nuclei	Adipose
48	chr16:31076800-31082800	Weak transcription	Hela-S3	cervix
49	chr16:31076800-31082800	Weak transcription	HUVEC	blood vessel
50	chr16:31076800-31083000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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