Variant report

Variant	rs72703756
Chromosome Location	chr14:81852126-81852127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81850220..81853055-chr14:81900012..81901931,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12586611	0.80[AFR][1000 genomes]
rs12586817	0.85[AFR][1000 genomes]
rs12589111	0.85[AFR][1000 genomes]
rs1570007	1.00[EUR][1000 genomes]
rs17111807	0.80[AFR][1000 genomes]
rs17111817	0.85[AFR][1000 genomes]
rs2371601	0.85[AFR][1000 genomes]
rs3853422	0.85[AFR][1000 genomes]
rs56201423	1.00[EUR][1000 genomes]
rs72689300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72689301	1.00[EUR][1000 genomes]
rs72689302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691404	0.93[EUR][1000 genomes]
rs72691409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72701731	1.00[EUR][1000 genomes]
rs72701732	1.00[EUR][1000 genomes]
rs72701735	1.00[EUR][1000 genomes]
rs72701736	1.00[EUR][1000 genomes]
rs72701738	1.00[EUR][1000 genomes]
rs72701745	1.00[EUR][1000 genomes]
rs72701746	1.00[EUR][1000 genomes]
rs72703710	1.00[EUR][1000 genomes]
rs72703718	1.00[EUR][1000 genomes]
rs72703719	1.00[EUR][1000 genomes]
rs72703724	1.00[EUR][1000 genomes]
rs72703731	1.00[EUR][1000 genomes]
rs72703734	1.00[EUR][1000 genomes]
rs72703736	1.00[EUR][1000 genomes]
rs72703737	1.00[EUR][1000 genomes]
rs72703743	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72703746	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72703758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72703762	1.00[EUR][1000 genomes]
rs72703764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
3	chr14:81836400-81885800	Weak transcription	Gastric	stomach
4	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:81847000-81852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:81847200-81855000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:81847200-81855200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:81847200-81856800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:81849400-81853400	Enhancers	Fetal Kidney	kidney
11	chr14:81849600-81860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:81849800-81858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:81850000-81855000	Weak transcription	K562	blood
14	chr14:81850000-81857400	Weak transcription	NHEK	skin
15	chr14:81850000-81858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:81850200-81852200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
18	chr14:81850800-81852200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:81850800-81852200	Enhancers	NHDF-Ad	bronchial
20	chr14:81850800-81853000	Enhancers	Brain Hippocampus Middle	brain
21	chr14:81851000-81852400	Enhancers	Hela-S3	cervix
22	chr14:81851000-81853000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81851000-81853200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:81851000-81853800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:81851000-81856800	Weak transcription	Esophagus	oesophagus
26	chr14:81851000-81858000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:81851200-81852400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:81851200-81852600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:81851200-81853000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:81851200-81853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:81851200-81854000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:81851400-81852600	Enhancers	Spleen	Spleen
33	chr14:81851400-81853400	Enhancers	Brain Germinal Matrix	brain
34	chr14:81851400-81853800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:81851600-81852200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:81851600-81853200	Enhancers	Brain Substantia Nigra	brain
37	chr14:81851600-81854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:81851600-81857600	Weak transcription	HMEC	breast
39	chr14:81851800-81852600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:81851800-81852800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:81851800-81853200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr14:81851800-81853400	Enhancers	Brain Anterior Caudate	brain
43	chr14:81852000-81852800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:81852000-81853400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:81852000-81853600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr14:81852000-81855000	Weak transcription	Small Intestine	intestine
47	chr14:81852000-81858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:81852000-81860800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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