Variant report

Variant	rs2027093
Chromosome Location	chr14:64585405-64585406
allele	C/G
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	POLR2A	chr14:64578683-64586884	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:64578631-64587093	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr14:64584419-64585452	MCF10A-Er-Src	breast:	n/a	chr14:64585251-64585259 chr14:64585050-64585061
4	MYC	chr14:64584364-64585428	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr14:64584436-64585452	MCF10A-Er-Src	breast:	n/a	chr14:64585251-64585259 chr14:64585050-64585061
6	STAT3	chr14:64584340-64585423	MCF10A-Er-Src	breast:	n/a	chr14:64585251-64585259 chr14:64585050-64585061
7	MYC	chr14:64584449-64585423	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SYNE2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10145320	0.81[ASN][1000 genomes]
rs12431522	0.85[ASN][1000 genomes]
rs12589702	0.81[ASN][1000 genomes]
rs1962134	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7144688	0.94[EUR][1000 genomes]
rs7148440	0.90[AMR][1000 genomes];0.94[EUR][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
3	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64565800-64588600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:64568800-64590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64569000-64587800	Weak transcription	Small Intestine	intestine
11	chr14:64570800-64587600	Weak transcription	Primary B cells from cord blood	blood
12	chr14:64572800-64586000	Weak transcription	Fetal Lung	lung
13	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:64574800-64586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:64574800-64586200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:64575800-64585600	Weak transcription	Ovary	ovary
17	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:64580200-64586200	Weak transcription	Aorta	Aorta
22	chr14:64580400-64588400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:64580600-64585600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:64580600-64585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:64580600-64586400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:64580600-64589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
28	chr14:64581000-64592200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:64581200-64587800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:64581200-64588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:64581200-64593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:64581400-64588400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:64581400-64592600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:64581800-64587800	Weak transcription	Fetal Kidney	kidney
36	chr14:64581800-64589000	Weak transcription	Esophagus	oesophagus
37	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:64582000-64589000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:64582000-64589000	Weak transcription	Right Ventricle	heart
40	chr14:64582000-64589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64582000-64589200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:64582200-64585800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:64582200-64586200	Weak transcription	Spleen	Spleen
44	chr14:64582200-64587600	Weak transcription	Left Ventricle	heart
45	chr14:64582200-64587800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:64582200-64588000	Weak transcription	Lung	lung
47	chr14:64582200-64588200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:64582200-64588800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:64582200-64588800	Weak transcription	Brain Germinal Matrix	brain
50	chr14:64582200-64588800	Weak transcription	Fetal Thymus	thymus

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