Variant report

Variant	rs72685288
Chromosome Location	chr14:78179263-78179264
allele	C/G
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	chr14:78178896-78179509	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:78179148-78179423	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:78179070-78179455	K562	blood:	n/a	n/a
4	POLR2A	chr14:78179058-78179384	U87	brain:	n/a	n/a
5	POLR2A	chr14:78179035-78179299	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:78179086-78179968	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:78179119-78179392	A549	lung:	n/a	n/a
8	POLR2A	chr14:78179237-78179479	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr14:78179160-78180708	GM12878	blood:	n/a	n/a
10	JUN	chr14:78179187-78179387	K562	blood:	n/a	n/a
11	POLR2A	chr14:78179063-78179377	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:78178913-78179433	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:78179019-78189040	K562	blood:	n/a	n/a
14	POLR2A	chr14:78179073-78179384	U87	brain:	n/a	n/a
15	POLR2A	chr14:78179100-78179273	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78179028..78181714-chr14:78184797..78186792,2	MCF-7	breast:

Variant related genes	Relation type
ALKBH1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10483884	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159308	1.00[ASN][1000 genomes]
rs12433742	1.00[ASN][1000 genomes]
rs17106595	1.00[ASN][1000 genomes]
rs1985149	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2003594	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28393221	0.84[EUR][1000 genomes]
rs55734921	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151836	0.84[EUR][1000 genomes]
rs72683265	1.00[ASN][1000 genomes]
rs72683267	1.00[ASN][1000 genomes]
rs72685236	0.84[EUR][1000 genomes]
rs72685267	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72687212	1.00[ASN][1000 genomes]
rs72687241	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72687256	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8015796	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8015938	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9743465	0.93[AMR][1000 genomes];0.81[EUR][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr14:78175400-78180400	Weak transcription	Gastric	stomach
2	chr14:78175600-78180400	Weak transcription	Aorta	Aorta
3	chr14:78175600-78182200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:78176000-78179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:78176200-78179800	Strong transcription	Primary hematopoietic stem cells	blood
6	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
7	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
12	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:78176600-78179400	Strong transcription	Lung	lung
15	chr14:78176600-78179800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:78176600-78180000	Strong transcription	NHDF-Ad	bronchial
17	chr14:78176600-78180400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:78176600-78181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:78176600-78182000	Strong transcription	Primary T cells from cord blood	blood
20	chr14:78176600-78182400	Strong transcription	HUVEC	blood vessel
21	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
29	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:78176800-78179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:78176800-78179600	Strong transcription	Ovary	ovary
35	chr14:78176800-78180600	Strong transcription	Fetal Lung	lung
36	chr14:78176800-78181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:78176800-78181800	Strong transcription	NHEK	skin
38	chr14:78176800-78182000	Strong transcription	Primary B cells from cord blood	blood
39	chr14:78176800-78182000	Strong transcription	NH-A	brain
40	chr14:78176800-78182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:78176800-78182400	Strong transcription	A549	lung
42	chr14:78176800-78183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:78176800-78190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:78176800-78191400	Weak transcription	Fetal Brain Male	brain
45	chr14:78176800-78192800	Strong transcription	Osteobl	bone
46	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
50	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle

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