Variant report

Variant	rs7184567
Chromosome Location	chr16:31021078-31021079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30797763..30800233-chr16:31019158..31021994,2	K562	blood:
2	chr16:31007064..31010034-chr16:31018671..31022251,4	MCF-7	breast:
3	chr16:31014981..31017878-chr16:31019821..31021502,2	MCF-7	breast:
4	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:
5	chr16:31018157..31021471-chr16:31041251..31044344,3	K562	blood:
6	chr16:31018219..31021809-chr16:31044070..31046311,3	K562	blood:

Variant related genes	Relation type
ENSG00000102870	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1046276	1.00[CHB][hapmap]
rs10782001	1.00[CHB][hapmap]
rs10782002	1.00[CHB][hapmap]
rs11076	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11150600	1.00[CHB][hapmap]
rs11150601	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11640534	1.00[CHB][hapmap]
rs11640961	1.00[CHB][hapmap]
rs11649653	1.00[CHB][hapmap]
rs11862744	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs11865038	0.92[CEU][hapmap]
rs12445568	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12445650	1.00[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs12447930	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12716978	0.83[EUR][1000 genomes]
rs12920772	0.85[EUR][1000 genomes]
rs12924903	1.00[CHB][hapmap]
rs12928852	1.00[CHB][hapmap]
rs12930545	1.00[CHB][hapmap]
rs12931046	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs13708	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs1458201	1.00[CHB][hapmap]
rs1458202	1.00[CHB][hapmap]
rs1870293	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2054213	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs2199036	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2305880	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs2305884	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs28360557	0.85[EUR][1000 genomes]
rs34454770	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35468353	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs35675346	1.00[CHB][hapmap]
rs3751855	0.92[CEU][hapmap]
rs3813020	1.00[CHB][hapmap]
rs4468641	0.92[CEU][hapmap]
rs4889525	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4889599	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4889604	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4889609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs58726213	0.81[EUR][1000 genomes]
rs61239537	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62055866	0.81[EUR][1000 genomes]
rs6565217	0.92[CEU][hapmap]
rs6950	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7196726	0.92[CEU][hapmap]
rs7197717	0.92[CEU][hapmap]
rs7199949	0.92[CEU][hapmap]
rs7200879	1.00[CHB][hapmap]
rs7203999	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7204459	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs7206511	1.00[CHB][hapmap]
rs72800847	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7294	0.92[CEU][hapmap]
rs729482	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732172	1.00[CEU][hapmap]
rs750952	0.92[CEU][hapmap]
rs8046707	1.00[CHB][hapmap]
rs8056842	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs8060857	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs8062719	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs897986	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs9938550	0.87[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	esv3410149	chr16:31020876-31023424	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
15	esv3407754	chr16:31020976-31023274	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7184567	RP11-196G11.2	cis	lung	GTEx
rs7184567	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs7184567	HSD3B7	cis	Esophagus Mucosa	GTEx
rs7184567	RP11-196G11.2	cis	Esophagus Muscularis	GTEx
rs7184567	HSD3B7	cis	Muscle Skeletal	GTEx
rs7184567	STX1B	cis	Thyroid	GTEx
rs7184567	KAT8	cis	Artery Tibial	GTEx
rs7184567	STX4	Cis_1M	lymphoblastoid	RTeQTL
rs7184567	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs7184567	MYST1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
2	chr16:31018000-31027400	Weak transcription	A549	lung
3	chr16:31018800-31022200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:31019200-31021200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr16:31019800-31022200	Active TSS	Brain Anterior Caudate	brain
6	chr16:31020200-31021200	Weak transcription	HSMM	muscle
7	chr16:31020400-31021400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr16:31020400-31021400	Flanking Active TSS	NH-A	brain
9	chr16:31020400-31021600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:31020400-31023000	Active TSS	Brain Cingulate Gyrus	brain
11	chr16:31020600-31021200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr16:31020600-31021200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr16:31020600-31021400	Flanking Active TSS	Fetal Brain Female	brain
14	chr16:31020600-31022400	Active TSS	Brain Angular Gyrus	brain
15	chr16:31020600-31022600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:31020800-31021200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:31020800-31021200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr16:31020800-31021400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr16:31020800-31021400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:31020800-31021600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:31020800-31021600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:31020800-31022400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:31020800-31022600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:31021000-31021200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:31021000-31021200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:31021000-31021200	Enhancers	Brain Substantia Nigra	brain
27	chr16:31021000-31021200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr16:31021000-31021200	Active TSS	Osteobl	bone
29	chr16:31021000-31021400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:31021000-31021400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr16:31021000-31021400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr16:31021000-31021400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:31021000-31021400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:31021000-31021400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr16:31021000-31021400	Flanking Active TSS	Fetal Brain Male	brain
36	chr16:31021000-31021400	Bivalent Enhancer	HepG2	liver
37	chr16:31021000-31021400	Flanking Active TSS	NHLF	lung
38	chr16:31021000-31021600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:31021000-31021600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:31021000-31021600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:31021000-31021600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:31021000-31021600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:31021000-31021600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:31021000-31021600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr16:31021000-31021600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr16:31021000-31021600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31021000-31021600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr16:31021000-31022200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:31021000-31022400	Active TSS	Brain Hippocampus Middle	brain
50	chr16:31021000-31022600	Active TSS	H9 Cell Line	embryonic stem cell

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