Variant report

Variant	rs72681225
Chromosome Location	chr14:77756705-77756706
allele	C/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	CEBPB	chr14:77756670-77756805	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77746501..77748869-chr14:77754519..77757381,3	MCF-7	breast:
2	chr14:77749701..77751347-chr14:77755395..77757544,2	K562	blood:
3	chr14:77752243..77754429-chr14:77756635..77759049,2	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17105658	0.86[AMR][1000 genomes]
rs17105674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55886156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55891221	0.82[EUR][1000 genomes]
rs56018212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56091500	0.82[EUR][1000 genomes]
rs56403921	0.82[EUR][1000 genomes]
rs6574364	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72681222	0.86[AMR][1000 genomes]
rs72681227	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681261	0.82[EUR][1000 genomes]
rs72681262	0.82[EUR][1000 genomes]
rs72681264	0.82[EUR][1000 genomes]
rs72681270	0.82[EUR][1000 genomes]
rs72681275	0.82[EUR][1000 genomes]
rs72681276	0.82[EUR][1000 genomes]
rs72681278	0.82[EUR][1000 genomes]
rs72681279	0.82[EUR][1000 genomes]
rs72681280	0.82[EUR][1000 genomes]
rs72681281	0.82[EUR][1000 genomes]
rs72681283	0.82[EUR][1000 genomes]
rs72681284	0.82[EUR][1000 genomes]
rs8177546	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8177560	0.81[EUR][1000 genomes]
rs8177565	0.81[EUR][1000 genomes]
rs8177567	0.81[EUR][1000 genomes]
rs8177568	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:77740200-77766800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:77740200-77769800	Weak transcription	Small Intestine	intestine
4	chr14:77740400-77766000	Weak transcription	Stomach Mucosa	stomach
5	chr14:77740800-77758000	Strong transcription	Fetal Stomach	stomach
6	chr14:77740800-77766200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr14:77741000-77767400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:77741800-77757200	Strong transcription	Liver	Liver
9	chr14:77741800-77758600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:77741800-77773600	Weak transcription	GM12878-XiMat	blood
11	chr14:77742000-77756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:77742000-77757400	Weak transcription	Right Atrium	heart
13	chr14:77742000-77766600	Strong transcription	Placenta	Placenta
14	chr14:77742200-77757600	Strong transcription	Ovary	ovary
15	chr14:77742200-77767600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:77742400-77766400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:77742400-77766400	Strong transcription	Adipose Nuclei	Adipose
18	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:77742600-77757400	Strong transcription	Brain Substantia Nigra	brain
20	chr14:77742600-77759400	Strong transcription	Brain Anterior Caudate	brain
21	chr14:77742600-77759600	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr14:77742600-77766600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:77742800-77757200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:77743200-77760400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:77743400-77757600	Strong transcription	Left Ventricle	heart
26	chr14:77744000-77771400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:77744400-77760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:77746600-77767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:77746800-77762200	Weak transcription	Colonic Mucosa	Colon
30	chr14:77747200-77762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:77747600-77756800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:77748200-77757400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:77748400-77759200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:77749200-77766400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:77749400-77757400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:77749400-77763000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:77749800-77757800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:77750000-77762000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:77750200-77767400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:77750800-77768000	Weak transcription	K562	blood
41	chr14:77751200-77756800	Weak transcription	Fetal Intestine Small	intestine
42	chr14:77751200-77756800	Weak transcription	Gastric	stomach
43	chr14:77751200-77764600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:77751400-77762600	Weak transcription	Hela-S3	cervix
45	chr14:77751400-77769200	Weak transcription	NHLF	lung
46	chr14:77751400-77769800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:77751400-77775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:77751800-77762200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:77751800-77767600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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