Variant report

Variant	rs12600293
Chromosome Location	chr16:72869657-72869658
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72869413..72872361-chr16:73080412..73083159,3	MCF-7	breast:
2	chr16:72868329..72871134-chr16:72961718..72963487,2	MCF-7	breast:
3	chr16:72867608..72872657-chr16:72880738..72885405,9	MCF-7	breast:
4	chr16:72868866..72871747-chr16:72882201..72884013,2	MCF-7	breast:
5	chr16:72867710..72870419-chr16:73202607..73204450,2	MCF-7	breast:
6	chr16:72868863..72870630-chr16:73029004..73031833,2	MCF-7	breast:
7	chr16:72865527..72874482-chr16:73088867..73095662,17	MCF-7	breast:
8	chr16:72868820..72873631-chr16:72873911..72878574,9	MCF-7	breast:
9	chr16:72868452..72870276-chr16:72992902..72994788,3	MCF-7	breast:
10	chr16:72865187..72868236-chr16:72868414..72870340,6	MCF-7	breast:
11	chr16:72866647..72870227-chr16:73029377..73032600,4	MCF-7	breast:

No data

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

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1035983	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1035984	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10400973	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs10492826	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11075940	0.81[AMR][1000 genomes]
rs12051226	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12051305	0.94[ASN][1000 genomes]
rs12103361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12595874	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12596196	0.96[AMR][1000 genomes]
rs12597202	0.98[AMR][1000 genomes]
rs12597703	0.96[AMR][1000 genomes]
rs12598003	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12598048	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12598858	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12599442	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12599589	0.96[AMR][1000 genomes]
rs13332877	1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13333025	0.93[AMR][1000 genomes]
rs1366846	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1429431	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1429432	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1429433	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs1429434	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs1544964	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs16971279	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16971281	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971287	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971288	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971290	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971292	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16971306	0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16971312	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971315	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16971318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16971321	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16971324	0.95[AMR][1000 genomes]
rs16971325	0.98[AMR][1000 genomes]
rs1859593	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1990096	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2040939	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2040940	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2043022	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs2229286	0.92[CHB][hapmap];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2229290	0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2266932	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266934	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266935	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2266938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2266939	0.92[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2266941	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2266942	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2266944	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2358805	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2358811	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2358812	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs292913	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292914	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292915	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292916	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292917	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292918	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292919	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292920	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292921	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292922	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292923	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292924	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292925	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292926	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292927	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292928	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292929	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs292930	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292931	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292932	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292933	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292934	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292935	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292937	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292938	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292939	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292940	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292941	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292942	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs292943	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs292945	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs292946	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292947	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3812983	0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4238966	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4278755	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs4788479	0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4788655	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788657	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788663	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4788664	0.96[AMR][1000 genomes]
rs4788666	0.95[AMR][1000 genomes]
rs4788667	0.96[AMR][1000 genomes]
rs4788669	0.96[AMR][1000 genomes]
rs59254438	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60974482	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6416744	0.96[AMR][1000 genomes]
rs6499578	0.86[AMR][1000 genomes]
rs6499579	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes]
rs6499581	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs6499591	0.96[AMR][1000 genomes]
rs6499592	0.93[AMR][1000 genomes]
rs6499593	0.95[AMR][1000 genomes]
rs714101	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs714102	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes]
rs7187123	0.88[AMR][1000 genomes]
rs7198782	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7203232	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7206490	0.95[AMR][1000 genomes]
rs740176	0.98[AMR][1000 genomes]
rs74028108	0.94[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs8053419	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs8059268	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs9302640	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs982799	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9921081	0.93[AMR][1000 genomes]
rs9923006	0.88[AMR][1000 genomes]
rs9927280	0.81[AMR][1000 genomes]
rs9933433	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs9936708	0.81[AMR][1000 genomes]
rs999210	0.85[CHB][hapmap];0.93[JPT][hapmap]

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:74 , 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	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
7	chr16:72855800-72874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:72859200-72874200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:72859200-72874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:72859200-72874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:72859600-72874200	Weak transcription	Lung	lung
12	chr16:72860200-72869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:72861200-72874600	Weak transcription	Adipose Nuclei	Adipose
14	chr16:72861800-72874800	Weak transcription	Right Atrium	heart
15	chr16:72862600-72874800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:72862600-72882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:72862800-72872000	Weak transcription	Fetal Lung	lung
18	chr16:72863800-72874200	Weak transcription	Left Ventricle	heart
19	chr16:72863800-72874400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:72863800-72878600	Weak transcription	Fetal Intestine Large	intestine
21	chr16:72864000-72874200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:72864000-72874200	Weak transcription	Osteobl	bone
23	chr16:72864000-72874400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:72864200-72874800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:72864400-72870800	Weak transcription	Fetal Intestine Small	intestine
26	chr16:72864400-72875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:72865000-72874800	Weak transcription	Psoas Muscle	Psoas
28	chr16:72866200-72870600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:72866200-72872200	Weak transcription	HepG2	liver
30	chr16:72866600-72870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:72866600-72872000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:72866600-72873400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:72866600-72878000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:72867000-72870000	Weak transcription	Pancreas	Pancrea
35	chr16:72867000-72872000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr16:72867000-72872000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:72867000-72872200	Weak transcription	Brain Angular Gyrus	brain
38	chr16:72867000-72874000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:72867000-72874200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:72867000-72874400	Weak transcription	Fetal Kidney	kidney
41	chr16:72867200-72871600	Weak transcription	Fetal Stomach	stomach
42	chr16:72867200-72872000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:72867200-72874400	Weak transcription	Brain Anterior Caudate	brain
44	chr16:72867200-72874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:72867400-72874200	Weak transcription	Ovary	ovary
46	chr16:72867400-72874400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:72867600-72871800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:72867600-72872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:72867600-72892400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr16:72867800-72870000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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