Variant report

Variant	rs72691409
Chromosome Location	chr14:81863610-81863611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81847233..81850100-chr14:81861547..81864501,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12586611	0.80[AFR][1000 genomes]
rs12586817	0.85[AFR][1000 genomes]
rs12589111	0.85[AFR][1000 genomes]
rs1570007	0.93[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]
rs3900587	0.85[EUR][1000 genomes]
rs56201423	0.93[EUR][1000 genomes]
rs72689300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72689301	0.93[EUR][1000 genomes]
rs72689302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72691404	1.00[EUR][1000 genomes]
rs72701731	0.93[EUR][1000 genomes]
rs72701732	0.93[EUR][1000 genomes]
rs72701735	0.93[EUR][1000 genomes]
rs72701736	0.93[EUR][1000 genomes]
rs72701738	0.93[EUR][1000 genomes]
rs72701745	0.93[EUR][1000 genomes]
rs72701746	0.93[EUR][1000 genomes]
rs72703710	0.93[EUR][1000 genomes]
rs72703718	0.93[EUR][1000 genomes]
rs72703719	0.93[EUR][1000 genomes]
rs72703724	0.93[EUR][1000 genomes]
rs72703731	0.93[EUR][1000 genomes]
rs72703734	0.93[EUR][1000 genomes]
rs72703736	0.93[EUR][1000 genomes]
rs72703737	0.93[EUR][1000 genomes]
rs72703743	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72703746	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72703756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72703758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72703762	0.93[EUR][1000 genomes]
rs72703764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
3	chr14:81852800-81863800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:81853200-81866400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:81853200-81866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:81855000-81866000	Strong transcription	K562	blood
8	chr14:81855200-81864800	Strong transcription	Primary hematopoietic stem cells	blood
9	chr14:81855200-81864800	Weak transcription	Small Intestine	intestine
10	chr14:81857600-81864600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:81858200-81865600	Weak transcription	Fetal Brain Female	brain
12	chr14:81858200-81867000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:81858800-81863800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:81858800-81864800	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:81859400-81866800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:81860000-81866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81860200-81864600	Strong transcription	Ovary	ovary
18	chr14:81860200-81867400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:81860600-81865000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:81860800-81864200	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:81860800-81864400	Strong transcription	Brain Anterior Caudate	brain
22	chr14:81860800-81864800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:81860800-81865000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:81861000-81873000	Weak transcription	HepG2	liver
25	chr14:81861200-81866400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:81861400-81863800	Weak transcription	Fetal Intestine Large	intestine
27	chr14:81861400-81864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:81861400-81864600	Weak transcription	Liver	Liver
29	chr14:81861400-81869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
31	chr14:81861600-81864400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:81861600-81864400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:81861600-81864600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:81861600-81865200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81861600-81873200	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:81861800-81864600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:81861800-81865000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:81861800-81865000	Strong transcription	Fetal Muscle Leg	muscle
39	chr14:81861800-81865400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:81861800-81866400	Weak transcription	Adipose Nuclei	Adipose
41	chr14:81861800-81866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:81862400-81864400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:81862400-81865000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr14:81862600-81863800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:81862600-81863800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:81862600-81864600	Weak transcription	Spleen	Spleen
47	chr14:81862800-81864600	Weak transcription	Esophagus	oesophagus
48	chr14:81862800-81866200	Weak transcription	NHLF	lung
49	chr14:81862800-81866400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:81862800-81867000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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