Variant report

Variant	rs12078527
Chromosome Location	chr1:186366547-186366548
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:186366515-186366569	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000268662	TF binding region
OCLM	TF binding region
C1orf27	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1003127	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911847	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911854	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911858	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582844	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12064371	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12069419	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082399	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084264	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085497	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12093440	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1547084	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17580052	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2037959	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273779	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2383479	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2383480	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737940	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3753564	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753567	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61810289	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61810292	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61831150	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61831151	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519719	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7539128	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:186345400-186371600	Weak transcription	Esophagus	oesophagus
3	chr1:186345400-186371600	Weak transcription	Gastric	stomach
4	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
5	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
6	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:186346000-186366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
10	chr1:186346400-186376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:186347200-186370800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:186347400-186368000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:186347400-186370400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:186347400-186370400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186347600-186370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:186348000-186382000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:186348600-186370200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:186348600-186370600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:186348600-186372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:186348600-186372200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:186348600-186373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:186348800-186370200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186348800-186370200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:186348800-186370200	Strong transcription	Dnd41	blood
28	chr1:186348800-186371000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:186348800-186372000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:186348800-186372200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:186349200-186368600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:186349200-186373200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:186349600-186373200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:186349800-186370000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:186354000-186367600	Strong transcription	HSMM	muscle
36	chr1:186355000-186367200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:186355000-186367200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:186355600-186379200	Strong transcription	K562	blood
39	chr1:186355600-186381800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:186355800-186368800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:186356000-186368800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:186356000-186368800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:186356200-186369000	Strong transcription	Osteobl	bone
44	chr1:186356400-186370400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:186357000-186372200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:186357400-186371400	Strong transcription	Adipose Nuclei	Adipose
47	chr1:186357400-186373400	Strong transcription	Liver	Liver
48	chr1:186357600-186373200	Strong transcription	Placenta	Placenta
49	chr1:186357800-186366800	Strong transcription	Brain Anterior Caudate	brain
50	chr1:186358600-186366600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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