Variant report

Variant	rs61984148
Chromosome Location	chr14:64581989-64581990
allele	A/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

Variant related genes	Relation type
SYNE2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs34944385	1.00[EUR][1000 genomes]
rs36021513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747118	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61984142	1.00[EUR][1000 genomes]
rs61984145	1.00[EUR][1000 genomes]
rs61984147	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61984151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61984372	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61984373	1.00[EUR][1000 genomes]
rs61987276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61987278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987282	1.00[EUR][1000 genomes]
rs61987283	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987284	1.00[EUR][1000 genomes]
rs61987285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987287	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987288	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987291	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987292	1.00[EUR][1000 genomes]
rs61987294	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987295	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987297	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987298	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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	chr14:64561600-64582400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:64565800-64588600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:64567800-64584800	Weak transcription	Fetal Heart	heart
11	chr14:64568200-64582800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:64568400-64582200	Strong transcription	Dnd41	blood
13	chr14:64568800-64590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:64569000-64587800	Weak transcription	Small Intestine	intestine
15	chr14:64570800-64587600	Weak transcription	Primary B cells from cord blood	blood
16	chr14:64572200-64582200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:64572800-64586000	Weak transcription	Fetal Lung	lung
18	chr14:64574600-64584200	Weak transcription	HUVEC	blood vessel
19	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:64574800-64586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:64574800-64586200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:64575000-64584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:64575800-64585600	Weak transcription	Ovary	ovary
24	chr14:64577200-64582800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:64577800-64582600	Weak transcription	NHLF	lung
26	chr14:64577800-64583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:64577800-64583800	Weak transcription	HMEC	breast
28	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:64579200-64582200	Strong transcription	Brain Germinal Matrix	brain
32	chr14:64579200-64582400	Strong transcription	Primary T cells from cord blood	blood
33	chr14:64579600-64582000	Strong transcription	Right Ventricle	heart
34	chr14:64579600-64582200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:64579600-64582200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:64579600-64582200	Strong transcription	Spleen	Spleen
37	chr14:64579600-64582400	Strong transcription	Fetal Brain Female	brain
38	chr14:64579600-64585000	Strong transcription	Fetal Stomach	stomach
39	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:64579800-64582200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:64579800-64582200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:64579800-64582200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:64579800-64582200	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr14:64579800-64582200	Genic enhancers	Placenta	Placenta
45	chr14:64579800-64582400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:64579800-64582800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:64579800-64583800	Strong transcription	GM12878-XiMat	blood
48	chr14:64580000-64582000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr14:64580000-64582000	Strong transcription	NHEK	skin
50	chr14:64580000-64582200	Strong transcription	Lung	lung

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