Variant report

Variant	rs527060
Chromosome Location	chr19:21510979-21510980
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	chr19:21501353..21503397-chr19:21510480..21512126,2	MCF-7	breast:
2	chr19:21510924..21513197-chr19:21688433..21691004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197013	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1114305	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1875256	0.85[ASN][1000 genomes]
rs2086319	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2434996	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2562402	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562409	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562415	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562438	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619823	0.81[ASN][1000 genomes]
rs2650797	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2650798	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2650842	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2650849	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2650851	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs279804	0.92[EUR][1000 genomes]
rs279805	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs279810	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279811	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279814	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279815	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279816	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279818	0.80[ASN][1000 genomes]
rs279819	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279820	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2914626	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914627	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914645	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928188	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928209	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2928211	0.84[ASN][1000 genomes]
rs2928216	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2928218	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2937157	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2937174	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2968022	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968023	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2968024	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2968040	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2968041	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2968045	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2968046	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968066	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2968082	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968086	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs472472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs475162	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs476376	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs478046	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs487991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs489613	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489845	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492271	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499445	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501563	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs504026	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs508656	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs511469	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs516519	0.89[ASN][1000 genomes]
rs537114	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs540637	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs540714	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs541639	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs547516	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555596	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571937	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs583680	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs586144	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598959	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs600186	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609806	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs612877	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627522	0.88[ASN][1000 genomes]
rs631436	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs632221	0.85[ASN][1000 genomes]
rs651454	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs661453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8102235	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8112775	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs924485	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:21484400-21511000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:21485400-21511200	Weak transcription	Gastric	stomach
4	chr19:21487600-21511200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:21488200-21511200	Weak transcription	Aorta	Aorta
6	chr19:21497600-21511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:21498400-21511200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:21501000-21511200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:21501000-21511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:21501000-21511200	Weak transcription	Psoas Muscle	Psoas
11	chr19:21505000-21511200	Weak transcription	Pancreas	Pancrea
12	chr19:21505400-21511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:21506400-21511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:21507000-21511200	Weak transcription	Colonic Mucosa	Colon
15	chr19:21509400-21511200	Weak transcription	Fetal Kidney	kidney
16	chr19:21509400-21511200	Weak transcription	Fetal Thymus	thymus
17	chr19:21509400-21511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:21509600-21511000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:21509600-21511000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:21509600-21511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21509600-21511200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:21509600-21511200	Weak transcription	Esophagus	oesophagus
23	chr19:21509600-21511200	Weak transcription	Lung	lung
24	chr19:21509800-21511200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:21509800-21512600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:21510000-21511200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:21510000-21511200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:21510200-21511200	Weak transcription	Placenta	Placenta
29	chr19:21510400-21511000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:21510400-21511000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr19:21510400-21511000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:21510400-21511000	Enhancers	Colon Smooth Muscle	Colon
33	chr19:21510400-21511000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:21510400-21511000	Enhancers	Fetal Heart	heart
35	chr19:21510400-21511000	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr19:21510400-21511000	Enhancers	HepG2	liver
37	chr19:21510400-21511200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr19:21510400-21511200	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:21510400-21511200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:21510400-21511200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:21510400-21511200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:21510400-21511200	Weak transcription	Fetal Stomach	stomach
43	chr19:21510400-21511400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:21510400-21511400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr19:21510400-21512600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:21510400-21512600	Active TSS	Fetal Brain Female	brain
47	chr19:21510600-21511000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr19:21510600-21511000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:21510600-21511000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr19:21510600-21511000	Flanking Active TSS	Brain Anterior Caudate	brain

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