Variant report

Variant	rs16916147
Chromosome Location	chr12:30783316-30783317
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30776811..30779665-chr12:30781833..30784951,3	K562	blood:
2	chr12:29503193..29506083-chr12:30783016..30785826,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10431223	1.00[EUR][1000 genomes]
rs11050960	1.00[EUR][1000 genomes]
rs11050962	1.00[EUR][1000 genomes]
rs11050963	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050964	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050965	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050974	0.82[ASN][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050976	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050978	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050979	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050980	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050981	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050995	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051017	0.92[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051040	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes]
rs11051064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11531057	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11534760	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11561156	1.00[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613738	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12228212	1.00[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229986	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12230490	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906574	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906582	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16906758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2101288	1.00[AMR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850958	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850959	0.91[ASN][1000 genomes]
rs3888018	0.82[JPT][hapmap]
rs3889761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898255	0.92[EUR][1000 genomes]
rs57735299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60712960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
3	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
6	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
7	chr12:30772800-30783400	Weak transcription	A549	lung
8	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:30775200-30783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
11	chr12:30775800-30784800	Weak transcription	GM12878-XiMat	blood
12	chr12:30775800-30813200	Weak transcription	HMEC	breast
13	chr12:30775800-30815200	Weak transcription	NHEK	skin
14	chr12:30776000-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:30776200-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:30776800-30791000	Weak transcription	Psoas Muscle	Psoas
18	chr12:30777200-30783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:30778000-30786400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:30780200-30795000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
25	chr12:30780600-30785800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:30780600-30788400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:30780800-30783600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:30780800-30784800	Strong transcription	Osteobl	bone
29	chr12:30780800-30786000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:30780800-30786000	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:30780800-30786200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:30780800-30792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:30780800-30793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:30780800-30793000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:30780800-30793200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:30780800-30793200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:30781000-30787200	Strong transcription	Fetal Intestine Large	intestine
39	chr12:30781000-30792800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:30781000-30792800	Strong transcription	Primary T cells from cord blood	blood
41	chr12:30781000-30793000	Strong transcription	Liver	Liver
42	chr12:30781200-30783800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:30781200-30784800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:30781200-30785200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:30781200-30786000	Strong transcription	Left Ventricle	heart
46	chr12:30781200-30786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:30781200-30786800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:30781200-30787200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:30781200-30787200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:30781200-30787200	Strong transcription	Rectal Smooth Muscle	rectum

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