Variant report

Variant	rs72799341
Chromosome Location	chr16:30936743-30936744
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30936648..30939511-chr16:30968022..30970933,3	MCF-7	breast:
2	chr16:30902291..30910124-chr16:30929571..30937617,16	K562	blood:
3	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
4	chr16:30902664..30909579-chr16:30931454..30940613,20	MCF-7	breast:
5	chr16:30783772..30791593-chr16:30931071..30936822,9	MCF-7	breast:
6	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
7	chr16:30904584..30910124-chr16:30931578..30937019,11	K562	blood:
8	chr16:30935927..30937493-chr16:31190517..31192070,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000262721	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103549	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1046276	0.82[ASN][1000 genomes]
rs10782001	0.90[ASN][1000 genomes]
rs10782002	0.90[ASN][1000 genomes]
rs11076	0.84[ASN][1000 genomes]
rs11150600	0.90[ASN][1000 genomes]
rs11150601	0.84[ASN][1000 genomes]
rs11640534	0.90[ASN][1000 genomes]
rs11649653	0.82[ASN][1000 genomes]
rs12599631	0.90[ASN][1000 genomes]
rs12917722	0.90[ASN][1000 genomes]
rs12924903	0.87[ASN][1000 genomes]
rs12928852	0.90[ASN][1000 genomes]
rs12930545	0.90[ASN][1000 genomes]
rs12930657	0.90[ASN][1000 genomes]
rs12931046	0.84[ASN][1000 genomes]
rs13336347	0.90[ASN][1000 genomes]
rs13708	0.84[ASN][1000 genomes]
rs1458201	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1458202	0.90[ASN][1000 genomes]
rs1870293	0.84[ASN][1000 genomes]
rs2054213	0.84[ASN][1000 genomes]
rs2305880	0.82[ASN][1000 genomes]
rs2305884	0.84[ASN][1000 genomes]
rs28360557	0.84[ASN][1000 genomes]
rs34873012	0.83[ASN][1000 genomes]
rs35675346	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35733741	0.90[ASN][1000 genomes]
rs3813020	0.90[ASN][1000 genomes]
rs4889514	0.90[ASN][1000 genomes]
rs4889525	0.84[ASN][1000 genomes]
rs4889571	0.90[ASN][1000 genomes]
rs4889599	0.84[ASN][1000 genomes]
rs4889603	0.84[ASN][1000 genomes]
rs4889604	0.84[ASN][1000 genomes]
rs56788559	0.81[AFR][1000 genomes]
rs6950	0.84[ASN][1000 genomes]
rs7185007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200879	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204459	0.82[ASN][1000 genomes]
rs7206511	0.90[ASN][1000 genomes]
rs8046707	0.82[ASN][1000 genomes]
rs8050588	0.90[ASN][1000 genomes]
rs8052245	0.82[ASN][1000 genomes]
rs8060857	0.84[ASN][1000 genomes]
rs8062719	0.80[ASN][1000 genomes]
rs897986	0.84[ASN][1000 genomes]
rs9319588	0.84[ASN][1000 genomes]
rs9938050	0.83[ASN][1000 genomes]
rs9938550	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	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
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
8	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30932800-30936800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr16:30932800-30936800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:30932800-30936800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:30932800-30936800	Active TSS	HSMM	muscle
5	chr16:30932800-30937000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr16:30933000-30936800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:30933000-30936800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:30933000-30936800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:30933200-30936800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:30935200-30941600	Weak transcription	Brain Substantia Nigra	brain
11	chr16:30935400-30936800	Active TSS	NHDF-Ad	bronchial
12	chr16:30935600-30943400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:30935800-30936800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:30935800-30936800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:30935800-30936800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:30935800-30936800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr16:30935800-30936800	Enhancers	Spleen	Spleen
18	chr16:30935800-30936800	Flanking Active TSS	NHEK	skin
19	chr16:30935800-30936800	Flanking Active TSS	Osteobl	bone
20	chr16:30935800-30937000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:30935800-30937000	Flanking Active TSS	Dnd41	blood
22	chr16:30935800-30937000	Flanking Active TSS	HMEC	breast
23	chr16:30935800-30937800	Weak transcription	Liver	Liver
24	chr16:30935800-30939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:30935800-30941200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:30936000-30936800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:30936000-30936800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:30936000-30936800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr16:30936000-30936800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:30936000-30936800	Flanking Active TSS	Fetal Brain Female	brain
31	chr16:30936000-30936800	Enhancers	Pancreas	Pancrea
32	chr16:30936000-30936800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:30936000-30936800	Flanking Active TSS	A549	lung
34	chr16:30936000-30937200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:30936000-30938000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:30936000-30939600	Enhancers	Fetal Brain Male	brain
37	chr16:30936000-30940000	Enhancers	Fetal Heart	heart
38	chr16:30936000-30953400	Weak transcription	Right Atrium	heart
39	chr16:30936200-30936800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:30936200-30936800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:30936200-30936800	Enhancers	Adipose Nuclei	Adipose
42	chr16:30936200-30936800	Enhancers	Fetal Intestine Large	intestine
43	chr16:30936200-30937000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:30936200-30937000	Enhancers	Primary T cells from cord blood	blood
45	chr16:30936200-30937000	Enhancers	Brain Cingulate Gyrus	brain
46	chr16:30936200-30937000	Flanking Active TSS	GM12878-XiMat	blood
47	chr16:30936200-30937200	Enhancers	Fetal Thymus	thymus
48	chr16:30936200-30937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:30936200-30937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:30936200-30937600	Weak transcription	Lung	lung

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