Variant report

Variant	rs2199036
Chromosome Location	chr16:31006972-31006973
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
2	chr16:31004701..31007140-chr16:31048826..31051541,2	K562	blood:
3	chr16:31005622..31010168-chr16:31042261..31047356,7	K562	blood:
4	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
5	chr16:31006807..31011358-chr16:31082999..31086095,12	MCF-7	breast:
6	chr16:31004521..31010198-chr16:31190050..31194376,11	K562	blood:
7	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
8	chr16:31005971..31009224-chr16:31118025..31120468,3	K562	blood:
9	chr16:31004627..31008448-chr16:31105710..31107499,4	MCF-7	breast:
10	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
11	chr16:31005622..31009984-chr16:31042414..31045630,5	K562	blood:
12	chr16:31003954..31007675-chr16:31007928..31010752,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000255439	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10782001	0.81[EUR][1000 genomes]
rs10782002	0.81[EUR][1000 genomes]
rs11076	0.82[EUR][1000 genomes]
rs11150600	0.81[EUR][1000 genomes]
rs11150601	0.87[EUR][1000 genomes]
rs12445568	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12447930	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12599631	0.81[EUR][1000 genomes]
rs12716978	0.83[EUR][1000 genomes]
rs12920772	0.85[EUR][1000 genomes]
rs12928852	0.81[EUR][1000 genomes]
rs12930545	0.81[EUR][1000 genomes]
rs12931046	0.85[EUR][1000 genomes]
rs13708	0.88[EUR][1000 genomes]
rs1458202	0.81[EUR][1000 genomes]
rs1870293	0.81[EUR][1000 genomes]
rs2054213	0.85[EUR][1000 genomes]
rs2305880	0.88[EUR][1000 genomes]
rs2305884	0.84[EUR][1000 genomes]
rs28360557	0.87[EUR][1000 genomes]
rs34454770	0.83[EUR][1000 genomes]
rs3813020	0.81[EUR][1000 genomes]
rs4502227	0.82[EUR][1000 genomes]
rs4889514	0.81[EUR][1000 genomes]
rs4889525	0.87[EUR][1000 genomes]
rs4889571	0.81[EUR][1000 genomes]
rs4889599	0.84[EUR][1000 genomes]
rs4889604	0.85[EUR][1000 genomes]
rs4889606	0.95[ASN][1000 genomes]
rs61185452	0.85[AFR][1000 genomes]
rs61239537	0.92[EUR][1000 genomes]
rs62055866	0.82[EUR][1000 genomes]
rs6950	0.87[EUR][1000 genomes]
rs7184567	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7203711	0.84[AFR][1000 genomes]
rs7203999	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7204459	0.85[EUR][1000 genomes]
rs7206511	0.81[EUR][1000 genomes]
rs72800847	0.88[EUR][1000 genomes]
rs729482	0.91[EUR][1000 genomes]
rs73528516	0.86[AFR][1000 genomes]
rs8050588	0.81[EUR][1000 genomes]
rs8052245	0.80[EUR][1000 genomes]
rs8060857	0.88[EUR][1000 genomes]
rs8062719	0.86[EUR][1000 genomes]
rs897986	0.87[EUR][1000 genomes]
rs9319588	0.81[EUR][1000 genomes]
rs9926533	0.95[ASN][1000 genomes]
rs9932822	0.83[AFR][1000 genomes]
rs9932921	0.83[AFR][1000 genomes]
rs9938550	0.88[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	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2199036	VKORC1	Cis_1M	lymphoblastoid	RTeQTL
rs2199036	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs2199036	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs2199036	RP11-196G11.2	cis	lung	GTEx
rs2199036	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs2199036	STX1B	cis	Thyroid	GTEx
rs2199036	HSD3B7	cis	Esophagus Mucosa	GTEx
rs2199036	HSD3B7	cis	Muscle Skeletal	GTEx
rs2199036	STX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30993200-31007600	Weak transcription	Small Intestine	intestine
2	chr16:30994400-31007800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:30995600-31008000	Weak transcription	Aorta	Aorta
4	chr16:30996400-31008000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:30996800-31007800	Weak transcription	Fetal Thymus	thymus
6	chr16:30996800-31008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:30997000-31007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:30997000-31007600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:30997000-31007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:30997000-31007800	Weak transcription	Right Atrium	heart
11	chr16:30997000-31008200	Weak transcription	Brain Substantia Nigra	brain
12	chr16:30997200-31007600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr16:30997200-31007600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:30997200-31007800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:30997400-31007200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:30997400-31007400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:30997400-31007600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30997400-31007600	Weak transcription	NH-A	brain
19	chr16:30997400-31007600	Weak transcription	Osteobl	bone
20	chr16:30997400-31008000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:30997600-31007200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:30997600-31007600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:30997600-31007600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:30997600-31008000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:30997600-31008200	Weak transcription	Lung	lung
26	chr16:30997600-31013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:30997800-31007600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:30997800-31007600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:30998000-31007600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:30998000-31007600	Weak transcription	Colon Smooth Muscle	Colon
31	chr16:30998000-31007600	Weak transcription	NHDF-Ad	bronchial
32	chr16:30998000-31007800	Weak transcription	HSMM	muscle
33	chr16:30999200-31007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:30999400-31008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:30999600-31007600	Weak transcription	Adipose Nuclei	Adipose
36	chr16:30999600-31007600	Weak transcription	Colonic Mucosa	Colon
37	chr16:30999600-31007600	Weak transcription	Pancreas	Pancrea
38	chr16:31000000-31007600	Weak transcription	Fetal Intestine Large	intestine
39	chr16:31000000-31008000	Weak transcription	Ovary	ovary
40	chr16:31000000-31008400	Weak transcription	Gastric	stomach
41	chr16:31000200-31007600	Weak transcription	NHLF	lung
42	chr16:31000200-31008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:31000400-31007600	Weak transcription	Fetal Intestine Small	intestine
44	chr16:31000400-31007800	Weak transcription	Spleen	Spleen
45	chr16:31000400-31008000	Weak transcription	Esophagus	oesophagus
46	chr16:31001200-31008000	Weak transcription	Right Ventricle	heart
47	chr16:31001400-31007600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:31001800-31007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:31001800-31007600	Enhancers	HepG2	liver
50	chr16:31002600-31007600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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