Variant report

Variant	rs17743256
Chromosome Location	chr16:48199530-48199531
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47175627..47176240-chr16:48199483..48200032,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10163354	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10163462	1.00[ASN][1000 genomes]
rs11861031	1.00[ASN][1000 genomes]
rs11861127	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11863133	0.93[ASN][1000 genomes]
rs11863233	1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs11863236	0.85[CHD][hapmap];0.93[ASN][1000 genomes]
rs11863325	1.00[ASN][1000 genomes]
rs11866251	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11866312	0.93[ASN][1000 genomes]
rs11866529	1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs13336264	0.86[ASN][1000 genomes]
rs16945869	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs16945874	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs16945916	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16945917	1.00[ASN][1000 genomes]
rs16945919	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16945972	1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs16945974	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs28376623	0.93[ASN][1000 genomes]
rs28503414	0.93[ASN][1000 genomes]
rs28605399	0.85[ASN][1000 genomes]
rs28626252	0.93[ASN][1000 genomes]
rs28654935	0.93[ASN][1000 genomes]
rs28684834	0.93[ASN][1000 genomes]
rs28696036	0.93[ASN][1000 genomes]
rs41280937	0.82[EUR][1000 genomes]
rs41280939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5017203	0.93[ASN][1000 genomes]
rs57889627	0.82[EUR][1000 genomes]
rs57912486	1.00[ASN][1000 genomes]
rs61450339	0.82[EUR][1000 genomes]
rs62058521	1.00[ASN][1000 genomes]
rs62058522	1.00[ASN][1000 genomes]
rs62058526	1.00[ASN][1000 genomes]
rs62058528	1.00[ASN][1000 genomes]
rs6500330	0.82[EUR][1000 genomes]
rs6500339	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7184831	1.00[ASN][1000 genomes]
rs7187233	1.00[ASN][1000 genomes]
rs7191844	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7193531	0.82[EUR][1000 genomes]
rs7203695	1.00[ASN][1000 genomes]
rs7206909	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73540901	0.93[ASN][1000 genomes]
rs73542903	0.93[ASN][1000 genomes]
rs73542904	0.93[ASN][1000 genomes]
rs73546434	0.85[ASN][1000 genomes]
rs73546437	0.85[ASN][1000 genomes]
rs73546439	0.85[ASN][1000 genomes]
rs74018266	0.82[EUR][1000 genomes]
rs74018298	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74018300	1.00[ASN][1000 genomes]
rs8046814	0.93[ASN][1000 genomes]
rs8047091	1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs8047397	0.85[ASN][1000 genomes]
rs8049005	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs8050120	1.00[ASN][1000 genomes]
rs8051016	0.85[CHD][hapmap];0.93[ASN][1000 genomes]
rs8051205	1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs8052732	0.82[EUR][1000 genomes]
rs8054564	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs8055128	0.85[ASN][1000 genomes]
rs8056100	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs8056143	0.85[ASN][1000 genomes]
rs8057475	0.93[ASN][1000 genomes]
rs8058341	0.82[EUR][1000 genomes]
rs8058522	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs8060696	0.85[ASN][1000 genomes]
rs8060722	0.85[ASN][1000 genomes]
rs8062222	1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs8062641	1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs957881	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932850	0.93[ASN][1000 genomes]
rs9939742	1.00[CHD][hapmap]
rs9941123	1.00[CHD][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48192800-48204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:48198600-48199600	Enhancers	Fetal Muscle Leg	muscle
3	chr16:48198800-48199600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:48198800-48199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:48198800-48199600	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr16:48198800-48199600	Enhancers	Fetal Stomach	stomach
7	chr16:48198800-48199600	Enhancers	Pancreas	Pancrea
8	chr16:48198800-48199600	Enhancers	Stomach Mucosa	stomach
9	chr16:48198800-48199600	Enhancers	GM12878-XiMat	blood
10	chr16:48198800-48199800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:48198800-48199800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr16:48198800-48199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:48198800-48199800	Enhancers	HSMM	muscle
14	chr16:48198800-48200200	Enhancers	Placenta	Placenta
15	chr16:48198800-48200200	Enhancers	HMEC	breast
16	chr16:48198800-48200200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr16:48198800-48200400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:48198800-48204800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr16:48199000-48199600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr16:48199000-48199600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:48199000-48199600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr16:48199000-48199600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr16:48199000-48199600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:48199000-48199600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr16:48199000-48199600	Enhancers	Right Ventricle	heart
26	chr16:48199000-48199600	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr16:48199000-48199600	Enhancers	NHLF	lung
28	chr16:48199000-48200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:48199000-48201200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:48199200-48199600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:48199200-48199600	Enhancers	Primary B cells from cord blood	blood
32	chr16:48199200-48199600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:48199200-48199600	Enhancers	Hela-S3	cervix
34	chr16:48199200-48199800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:48199200-48199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr16:48199200-48199800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:48199200-48199800	Flanking Active TSS	A549	lung
38	chr16:48199200-48199800	Enhancers	Osteobl	bone
39	chr16:48199200-48200000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:48199200-48200200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:48199200-48200200	Enhancers	HSMMtube	muscle
42	chr16:48199200-48226600	Weak transcription	Spleen	Spleen
43	chr16:48199400-48199600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:48199400-48199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:48199400-48199600	Enhancers	Adipose Nuclei	Adipose
46	chr16:48199400-48199800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr16:48199400-48199800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:48199400-48200000	Enhancers	Stomach Smooth Muscle	stomach
49	chr16:48199400-48200200	Enhancers	Liver	Liver

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