Variant report

Variant	rs72681214
Chromosome Location	chr14:77740783-77740784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:77740763-77740952	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:77740766-77740936	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77597295..77599304-chr14:77739506..77741172,2	MCF-7	breast:
2	chr14:77736936..77738767-chr14:77739466..77741351,2	MCF-7	breast:
3	chr14:77738568..77742274-chr14:77786037..77788783,3	MCF-7	breast:
4	chr14:77730051..77733003-chr14:77740176..77742640,2	MCF-7	breast:
5	chr14:77735572..77739063-chr14:77740094..77742423,3	K562	blood:

No data

Variant related genes	Relation type
NGB	TF binding region
ENSG00000165553	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000221754	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17105658	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28988622	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45561437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922804	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72679184	0.81[ASN][1000 genomes]
rs72679190	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72679191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72681205	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681222	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681243	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv902104	chr14:77720741-77756321	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77737400-77743000	Weak transcription	Dnd41	blood
2	chr14:77737800-77742800	Weak transcription	Gastric	stomach
3	chr14:77738000-77742600	Weak transcription	Pancreas	Pancrea
4	chr14:77738000-77742600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:77738200-77742400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:77738800-77741800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:77738800-77743400	Weak transcription	A549	lung
8	chr14:77738800-77749600	Weak transcription	NHDF-Ad	bronchial
9	chr14:77739000-77749800	Weak transcription	HUVEC	blood vessel
10	chr14:77739200-77742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:77739200-77742400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:77739200-77742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:77739200-77742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:77739200-77742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:77739200-77742600	Weak transcription	Fetal Intestine Large	intestine
16	chr14:77739200-77743600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:77739400-77741800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:77739400-77742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:77739400-77742800	Weak transcription	Primary T cells from cord blood	blood
20	chr14:77739400-77744600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:77739400-77745400	Weak transcription	Fetal Lung	lung
22	chr14:77739400-77749000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:77739600-77740800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:77739600-77741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:77739600-77741400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:77739600-77742000	Weak transcription	Esophagus	oesophagus
27	chr14:77739600-77742000	Weak transcription	Placenta	Placenta
28	chr14:77739600-77742400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:77739600-77742800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:77739600-77744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:77739600-77745400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:77739600-77745600	Weak transcription	Primary B cells from cord blood	blood
33	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:77739800-77741000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr14:77739800-77741600	Weak transcription	Fetal Brain Female	brain
36	chr14:77739800-77742200	Weak transcription	Brain Anterior Caudate	brain
37	chr14:77739800-77742200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:77739800-77743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:77739800-77743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:77739800-77743800	Weak transcription	HSMMtube	muscle
41	chr14:77740000-77742400	Weak transcription	Right Ventricle	heart
42	chr14:77740000-77742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:77740000-77744600	Weak transcription	Colonic Mucosa	Colon
44	chr14:77740000-77744600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:77740000-77749600	Weak transcription	HMEC	breast
46	chr14:77740200-77741800	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:77740200-77742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:77740200-77742600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:77740200-77746400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:77740200-77749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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