Variant report

Variant	rs72689300
Chromosome Location	chr14:81858282-81858283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81684553..81687332-chr14:81856686..81858470,2	MCF-7	breast:
2	chr14:81857190..81860023-chr14:81897316..81899061,2	K562	blood:
3	chr14:81855959..81858905-chr14:81901728..81904527,2	K562	blood:
4	chr14:81835420..81837863-chr14:81857937..81859970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

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]
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]
rs72703756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:53 , 50 per page) page: 1 2

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	chr14:81849600-81860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81849800-81858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
8	chr14:81852000-81858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81852000-81860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:81852400-81861000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:81852400-81862600	Weak transcription	Hela-S3	cervix
12	chr14:81852600-81859600	Weak transcription	Spleen	Spleen
13	chr14:81852600-81861600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:81852800-81863800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:81853200-81858600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:81853200-81859600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:81853200-81860000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:81853200-81860800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:81853200-81862400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:81853200-81866400	Weak transcription	Brain Substantia Nigra	brain
22	chr14:81853200-81866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:81853400-81861000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:81853400-81861000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:81853600-81861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:81853800-81860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:81855000-81861200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:81855000-81866000	Strong transcription	K562	blood
29	chr14:81855200-81864800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr14:81855200-81864800	Weak transcription	Small Intestine	intestine
31	chr14:81855800-81859400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:81855800-81860800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:81855800-81861000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:81856000-81860800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:81856000-81861200	Weak transcription	Fetal Kidney	kidney
36	chr14:81856200-81861200	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:81856600-81860800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:81856800-81858800	Enhancers	Esophagus	oesophagus
39	chr14:81856800-81859000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:81856800-81861400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:81857400-81858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:81857400-81859400	Enhancers	NHEK	skin
43	chr14:81857600-81859200	Enhancers	HMEC	breast
44	chr14:81857600-81860800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:81857600-81864600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:81858000-81859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:81858000-81861000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:81858000-81861000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:81858200-81858600	Weak transcription	Fetal Intestine Small	intestine
50	chr14:81858200-81860200	Weak transcription	Ovary	ovary

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