Variant report

Variant	rs9941201
Chromosome Location	chr16:30766247-30766248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30752868..30755016-chr16:30765682..30767341,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10782000	0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	1.00[YRI][hapmap]
rs11648654	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12447824	0.81[AFR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530203	0.83[YRI][hapmap]
rs1550477	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972808	0.82[YRI][hapmap]
rs2972809	0.80[YRI][hapmap]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889504	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889505	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889508	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565204	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188077	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193412	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	1.00[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048656	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056105	0.82[AFR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941300	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30760000-30772400	Weak transcription	Stomach Mucosa	stomach
2	chr16:30760200-30772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:30760400-30772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:30760400-30772200	Weak transcription	Fetal Heart	heart
5	chr16:30760400-30772200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30760400-30772200	Weak transcription	Small Intestine	intestine
7	chr16:30760600-30772200	Weak transcription	Psoas Muscle	Psoas
8	chr16:30760600-30772600	Weak transcription	Right Atrium	heart
9	chr16:30760800-30771200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30761000-30769200	Strong transcription	Primary T cells from cord blood	blood
11	chr16:30761000-30769400	Strong transcription	NHEK	skin
12	chr16:30761000-30769400	Strong transcription	Osteobl	bone
13	chr16:30761000-30772000	Strong transcription	Fetal Intestine Small	intestine
14	chr16:30761200-30766800	Strong transcription	NH-A	brain
15	chr16:30761200-30769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:30761200-30769400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:30761200-30771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:30761200-30771200	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr16:30761200-30771400	Strong transcription	Fetal Stomach	stomach
20	chr16:30761200-30771600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:30761200-30771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30761200-30771800	Strong transcription	NHLF	lung
23	chr16:30761200-30772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:30761200-30772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:30761400-30768800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:30761400-30769000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:30761400-30769000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:30761400-30769000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:30761400-30770000	Strong transcription	Placenta	Placenta
30	chr16:30761400-30771200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:30761400-30771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:30761400-30771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:30761400-30772000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:30761600-30768600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr16:30761600-30768600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:30761600-30768800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:30761600-30768800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:30761600-30769000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:30761600-30769400	Strong transcription	Fetal Thymus	thymus
40	chr16:30761800-30769200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr16:30761800-30769200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:30761800-30769400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:30761800-30769400	Strong transcription	HMEC	breast
44	chr16:30761800-30769600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:30761800-30769600	Strong transcription	Fetal Muscle Leg	muscle
46	chr16:30761800-30770000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr16:30761800-30770800	Strong transcription	Brain Anterior Caudate	brain
48	chr16:30761800-30771000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:30761800-30771400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:30761800-30771400	Strong transcription	Stomach Smooth Muscle	stomach

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