Variant report

Variant	rs4788479
Chromosome Location	chr16:72867734-72867735
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	chr16:72867608..72872657-chr16:72880738..72885405,9	MCF-7	breast:
2	chr16:72865392..72868405-chr16:73080363..73085094,4	MCF-7	breast:
3	chr16:72865613..72867777-chr16:72870106..72872097,2	K562	blood:
4	chr16:72867710..72870419-chr16:73202607..73204450,2	MCF-7	breast:
5	chr16:72865527..72874482-chr16:73088867..73095662,17	MCF-7	breast:
6	chr16:72865187..72868236-chr16:72868414..72870340,6	MCF-7	breast:
7	chr16:72866647..72870227-chr16:73029377..73032600,4	MCF-7	breast:
8	chr16:72865539..72868263-chr16:72993679..72995646,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140836	Chromatin interaction
ENSG00000271009	Chromatin interaction
ENSG00000272250	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1035983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1035984	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10400973	1.00[EUR][1000 genomes]
rs10492826	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075940	0.82[AMR][1000 genomes]
rs12051226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12051305	0.95[ASN][1000 genomes]
rs12103361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12595874	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12596196	0.98[AMR][1000 genomes]
rs12597202	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	0.98[AMR][1000 genomes]
rs12598003	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12598048	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12598858	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12599442	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12599589	0.98[AMR][1000 genomes]
rs12600293	0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12921040	1.00[EUR][1000 genomes]
rs13332877	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13333025	0.91[AMR][1000 genomes]
rs1366846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1429431	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1429432	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1429434	1.00[EUR][1000 genomes]
rs1544964	1.00[EUR][1000 genomes]
rs16971279	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971281	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971287	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971288	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971290	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971292	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971306	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971314	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971318	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971321	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16971324	0.93[AMR][1000 genomes]
rs16971325	0.96[AMR][1000 genomes]
rs1859593	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990096	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040939	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2040940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2043022	0.89[AMR][1000 genomes]
rs2115625	1.00[EUR][1000 genomes]
rs2229286	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2229290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266932	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266934	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266935	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266936	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266938	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266941	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2266942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358805	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358811	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358812	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292913	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292914	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292915	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292916	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292917	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292918	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292919	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292920	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292921	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292922	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292924	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292925	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292926	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292927	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292928	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292929	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292930	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292931	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292935	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292939	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292941	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292942	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292943	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292945	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292946	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292947	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812983	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238966	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4278755	0.89[AMR][1000 genomes]
rs4788655	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788657	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788664	0.95[AMR][1000 genomes]
rs4788666	0.96[AMR][1000 genomes]
rs4788667	0.95[AMR][1000 genomes]
rs4788669	0.95[AMR][1000 genomes]
rs59254438	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60974482	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6416744	0.95[AMR][1000 genomes]
rs6499578	0.88[AMR][1000 genomes]
rs6499579	0.86[AMR][1000 genomes]
rs6499581	1.00[EUR][1000 genomes]
rs6499591	0.95[AMR][1000 genomes]
rs6499592	0.95[AMR][1000 genomes]
rs6499593	0.96[AMR][1000 genomes]
rs714101	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187123	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198782	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7203232	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7206490	0.93[AMR][1000 genomes]
rs740176	0.96[AMR][1000 genomes]
rs74028108	0.95[ASN][1000 genomes]
rs8044614	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302640	1.00[EUR][1000 genomes]
rs982799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9921081	0.91[AMR][1000 genomes]
rs9923006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927280	0.82[AMR][1000 genomes]
rs9933433	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9934215	0.89[AMR][1000 genomes]
rs9936708	0.82[AMR][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	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
3	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
8	chr16:72855800-72874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:72859200-72874200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:72859200-72874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:72859200-72874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:72859600-72874200	Weak transcription	Lung	lung
13	chr16:72860200-72869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:72861200-72874600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:72861800-72874800	Weak transcription	Right Atrium	heart
16	chr16:72862600-72874800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:72862600-72882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:72862800-72872000	Weak transcription	Fetal Lung	lung
19	chr16:72863800-72874200	Weak transcription	Left Ventricle	heart
20	chr16:72863800-72874400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:72863800-72878600	Weak transcription	Fetal Intestine Large	intestine
22	chr16:72864000-72874200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr16:72864000-72874200	Weak transcription	Osteobl	bone
24	chr16:72864000-72874400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr16:72864200-72868600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:72864200-72874800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:72864400-72869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:72864400-72870800	Weak transcription	Fetal Intestine Small	intestine
29	chr16:72864400-72875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:72865000-72874800	Weak transcription	Psoas Muscle	Psoas
31	chr16:72865200-72868200	Weak transcription	GM12878-XiMat	blood
32	chr16:72866000-72867800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr16:72866000-72868000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:72866000-72868000	Enhancers	Colon Smooth Muscle	Colon
35	chr16:72866200-72867800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:72866200-72869000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr16:72866200-72870600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:72866200-72872200	Weak transcription	HepG2	liver
39	chr16:72866400-72867800	Enhancers	HSMMtube	muscle
40	chr16:72866400-72868400	Enhancers	A549	lung
41	chr16:72866600-72867800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:72866600-72867800	Enhancers	Stomach Smooth Muscle	stomach
43	chr16:72866600-72870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:72866600-72872000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:72866600-72873400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:72866600-72878000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:72866800-72867800	Enhancers	Placenta	Placenta
48	chr16:72866800-72868600	Enhancers	Hela-S3	cervix
49	chr16:72867000-72867800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:72867000-72867800	Enhancers	Fetal Muscle Leg	muscle

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