Variant report

Variant	rs60892678
Chromosome Location	chr19:36426159-36426160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36231818..36233362-chr19:36425701..36428426,2	MCF-7	breast:
2	chr19:36239375..36241509-chr19:36425781..36428099,2	MCF-7	breast:
3	chr19:36370775..36373541-chr19:36425672..36427378,2	MCF-7	breast:
4	chr19:36390062..36392033-chr19:36425677..36427196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243968	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000126246	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10221461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10221486	0.86[ASN][1000 genomes]
rs1057265	0.91[ASN][1000 genomes]
rs11878444	0.93[ASN][1000 genomes]
rs11878880	0.86[ASN][1000 genomes]
rs11879537	0.86[ASN][1000 genomes]
rs11880835	1.00[ASN][1000 genomes]
rs11880859	1.00[ASN][1000 genomes]
rs11881157	0.91[ASN][1000 genomes]
rs11882386	0.93[ASN][1000 genomes]
rs11883234	0.98[ASN][1000 genomes]
rs13382036	0.91[ASN][1000 genomes]
rs2242590	0.93[ASN][1000 genomes]
rs2293756	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55686886	1.00[ASN][1000 genomes]
rs56042927	1.00[ASN][1000 genomes]
rs56132631	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56132838	0.87[ASN][1000 genomes]
rs56187901	1.00[ASN][1000 genomes]
rs56230692	1.00[ASN][1000 genomes]
rs56922307	0.91[ASN][1000 genomes]
rs57094555	0.91[ASN][1000 genomes]
rs57740310	0.85[AFR][1000 genomes]
rs57785375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58161969	0.91[ASN][1000 genomes]
rs58456578	0.91[ASN][1000 genomes]
rs58768499	0.97[ASN][1000 genomes]
rs58976020	0.93[ASN][1000 genomes]
rs59150589	0.91[ASN][1000 genomes]
rs59151712	1.00[ASN][1000 genomes]
rs60073802	0.91[ASN][1000 genomes]
rs60276253	1.00[ASN][1000 genomes]
rs60500471	1.00[ASN][1000 genomes]
rs60697711	0.85[AFR][1000 genomes]
rs61510077	0.95[ASN][1000 genomes]
rs61660311	0.83[ASN][1000 genomes]
rs7245383	1.00[ASN][1000 genomes]
rs7246259	0.93[ASN][1000 genomes]
rs7246541	0.91[ASN][1000 genomes]
rs7247000	0.89[ASN][1000 genomes]
rs7247769	1.00[ASN][1000 genomes]
rs7248253	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7248265	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7249502	1.00[ASN][1000 genomes]
rs7249567	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7251380	1.00[ASN][1000 genomes]
rs7251422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7252526	0.86[ASN][1000 genomes]
rs7252572	0.83[ASN][1000 genomes]
rs7252693	1.00[ASN][1000 genomes]
rs7252839	1.00[ASN][1000 genomes]
rs7254298	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254905	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254994	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7255824	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256952	1.00[ASN][1000 genomes]
rs7257789	0.93[ASN][1000 genomes]
rs7257911	0.89[ASN][1000 genomes]
rs7258914	0.89[ASN][1000 genomes]
rs7259892	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73599554	0.86[ASN][1000 genomes]
rs73599565	0.86[ASN][1000 genomes]
rs73599577	0.93[ASN][1000 genomes]
rs73599602	0.93[ASN][1000 genomes]
rs73928364	0.86[ASN][1000 genomes]
rs73928368	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73928369	1.00[ASN][1000 genomes]
rs909135	0.93[ASN][1000 genomes]
rs909136	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36422200-36426600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36422400-36426200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:36422400-36426400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:36422400-36426400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36422400-36426400	Weak transcription	Colonic Mucosa	Colon
6	chr19:36422400-36426400	Weak transcription	Fetal Lung	lung
7	chr19:36422400-36426400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:36422400-36426400	Weak transcription	NHDF-Ad	bronchial
9	chr19:36422400-36426600	Weak transcription	Liver	Liver
10	chr19:36422400-36426600	Weak transcription	Fetal Kidney	kidney
11	chr19:36422400-36426600	Weak transcription	HSMM	muscle
12	chr19:36422800-36426200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:36423000-36426200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:36423000-36426200	Weak transcription	Left Ventricle	heart
15	chr19:36423000-36426400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:36423000-36426400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:36423000-36426400	Weak transcription	Adipose Nuclei	Adipose
18	chr19:36423000-36426400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:36423000-36426400	Weak transcription	Right Ventricle	heart
20	chr19:36423000-36426400	Weak transcription	NH-A	brain
21	chr19:36423000-36426600	Weak transcription	Right Atrium	heart
22	chr19:36423000-36426600	Weak transcription	Spleen	Spleen
23	chr19:36423000-36426600	Weak transcription	HSMMtube	muscle
24	chr19:36423200-36426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:36423200-36426200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:36423200-36426200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:36423200-36426200	Weak transcription	Fetal Stomach	stomach
28	chr19:36423200-36426400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:36423200-36426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:36423200-36426400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:36423200-36426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:36423200-36426400	Weak transcription	Brain Angular Gyrus	brain
33	chr19:36423200-36426400	Weak transcription	Brain Anterior Caudate	brain
34	chr19:36423200-36426400	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:36423200-36426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:36423200-36426400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:36423200-36426400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:36423200-36426400	Weak transcription	Fetal Brain Female	brain
39	chr19:36423200-36426400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:36423200-36426400	Weak transcription	Stomach Mucosa	stomach
41	chr19:36423200-36426400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr19:36423200-36426400	Weak transcription	NHEK	skin
43	chr19:36423200-36426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:36423200-36426600	Weak transcription	Brain Substantia Nigra	brain
45	chr19:36423200-36426600	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:36423200-36426600	Weak transcription	Fetal Heart	heart
47	chr19:36423200-36426600	Weak transcription	GM12878-XiMat	blood
48	chr19:36423200-36426600	Weak transcription	HMEC	breast
49	chr19:36423200-36426600	Weak transcription	HUVEC	blood vessel
50	chr19:36423400-36426200	Weak transcription	Brain Cingulate Gyrus	brain

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