Variant report

Variant	rs7195234
Chromosome Location	chr16:72866047-72866048
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72865392..72868405-chr16:73080363..73085094,4	MCF-7	breast:
2	chr16:72865125..72866721-chr16:73087210..73088768,2	MCF-7	breast:
3	chr16:72865613..72867777-chr16:72870106..72872097,2	K562	blood:
4	chr16:72865024..72867320-chr16:72984929..72987398,2	MCF-7	breast:
5	chr16:72865444..72867125-chr16:73097425..73099018,2	MCF-7	breast:
6	chr16:72865527..72874482-chr16:73088867..73095662,17	MCF-7	breast:
7	chr16:72865187..72868236-chr16:72868414..72870340,6	MCF-7	breast:
8	chr16:72860410..72861919-chr16:72865085..72866692,2	MCF-7	breast:
9	chr16:72864494..72866478-chr16:72881078..72882905,2	MCF-7	breast:
10	chr16:72865539..72868263-chr16:72993679..72995646,2	MCF-7	breast:

No data

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

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332914	1.00[CEU][hapmap]
rs13336634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429433	1.00[TSI][hapmap];0.92[YRI][hapmap]
rs16971145	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs2213978	1.00[CEU][hapmap]
rs28464989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56804755	1.00[EUR][1000 genomes]
rs56991537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61192283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61235372	1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201079	1.00[TSI][hapmap]
rs7202598	1.00[EUR][1000 genomes]
rs73583171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs8043976	0.92[ASW][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	1.00[AMR][1000 genomes]
rs8051123	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051371	1.00[EUR][1000 genomes]
rs8053419	0.92[YRI][hapmap]
rs8061838	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	1.00[AMR][1000 genomes]
rs9889054	1.00[TSI][hapmap]
rs9923235	1.00[AMR][1000 genomes]
rs9926706	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933331	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938038	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999210	0.85[YRI][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	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
4	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72835200-72867400	Weak transcription	NHEK	skin
7	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:72845800-72867000	Weak transcription	Ovary	ovary
10	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
11	chr16:72852600-72866400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:72854200-72867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:72854400-72867000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:72855800-72874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:72856800-72866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:72858400-72866200	Strong transcription	HepG2	liver
17	chr16:72859200-72874200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:72859200-72874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:72859200-72874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:72859600-72874200	Weak transcription	Lung	lung
21	chr16:72860200-72869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:72861200-72874600	Weak transcription	Adipose Nuclei	Adipose
23	chr16:72861800-72867000	Weak transcription	Aorta	Aorta
24	chr16:72861800-72874800	Weak transcription	Right Atrium	heart
25	chr16:72862000-72866800	Weak transcription	Hela-S3	cervix
26	chr16:72862000-72867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:72862000-72867400	Weak transcription	HMEC	breast
28	chr16:72862200-72866400	Weak transcription	A549	lung
29	chr16:72862400-72866800	Weak transcription	Fetal Kidney	kidney
30	chr16:72862600-72866400	Weak transcription	Colonic Mucosa	Colon
31	chr16:72862600-72866600	Weak transcription	Pancreas	Pancrea
32	chr16:72862600-72867400	Weak transcription	NHLF	lung
33	chr16:72862600-72874800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:72862600-72882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:72862800-72872000	Weak transcription	Fetal Lung	lung
36	chr16:72863800-72866200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:72863800-72866600	Weak transcription	Liver	Liver
38	chr16:72863800-72866800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:72863800-72867000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:72863800-72874200	Weak transcription	Left Ventricle	heart
41	chr16:72863800-72874400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr16:72863800-72878600	Weak transcription	Fetal Intestine Large	intestine
43	chr16:72864000-72866200	Weak transcription	Fetal Stomach	stomach
44	chr16:72864000-72866800	Weak transcription	Placenta	Placenta
45	chr16:72864000-72867000	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:72864000-72874200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr16:72864000-72874200	Weak transcription	Osteobl	bone
48	chr16:72864000-72874400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr16:72864200-72866400	Weak transcription	HSMMtube	muscle
50	chr16:72864200-72866600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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