Variant report

Variant	rs55770157
Chromosome Location	chr14:64684530-64684531
allele	C/T
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	GATA2	chr14:64684244-64685302	SH-SY5Y	brain:	n/a	chr14:64684349-64684357 chr14:64684359-64684369
2	RUNX3	chr14:64684081-64684622	GM12878	blood:	n/a	n/a
3	RCOR1	chr14:64684123-64684773	GM12878	blood:	n/a	n/a
4	GATA1	chr14:64684262-64684950	PBDE	blood:	n/a	chr14:64684349-64684357 chr14:64684359-64684369
5	TBL1XR1	chr14:64684029-64684621	GM12878	blood:	n/a	n/a
6	EP300	chr14:64684181-64684540	GM12878	blood:	n/a	chr14:64684248-64684257
7	BHLHE40	chr14:64684144-64684557	GM12878	blood:	n/a	n/a
8	ZNF384	chr14:64684320-64684635	GM12878	blood:	n/a	n/a
9	EBF1	chr14:64684517-64684782	GM12878	blood:	n/a	chr14:64684642-64684653
10	TAL1	chr14:64684485-64684625	K562	blood:	n/a	chr14:64684568-64684576
11	EBF1	chr14:64684173-64684833	GM12878	blood:	n/a	chr14:64684642-64684653
12	RCOR1	chr14:64684478-64684798	K562	blood:	n/a	n/a
13	EP300	chr14:64684140-64684785	GM12878	blood:	n/a	chr14:64684248-64684257
14	GATA3	chr14:64684429-64684913	SH-SY5Y	brain:	n/a	n/a
15	RUNX3	chr14:64684039-64684706	GM12878	blood:	n/a	n/a
16	EP300	chr14:64684086-64684569	GM12878	blood:	n/a	chr14:64684107-64684123 chr14:64684248-64684257

No.	Distal block	Cell Line	Cell type
1	chr14:64662559..64666637-chr14:64681435..64684914,4	MCF-7	breast:
2	chr14:64657632..64659971-chr14:64682618..64684745,2	MCF-7	breast:
3	chr14:64682929..64685902-chr14:64969733..64972022,2	MCF-7	breast:
4	chr14:64679549..64681782-chr14:64683797..64685712,2	K562	blood:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000054654	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55929521	1.00[AMR][1000 genomes]
rs56067354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56237903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59748760	1.00[AMR][1000 genomes]
rs72722369	1.00[AMR][1000 genomes]
rs944051	1.00[AMR][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	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
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
2	chr14:64664200-64698600	Weak transcription	HMEC	breast
3	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64666200-64686000	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:64667400-64690200	Weak transcription	HepG2	liver
7	chr14:64667600-64686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:64672800-64696600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:64674600-64696000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:64674600-64696200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:64674600-64696400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:64674600-64699800	Strong transcription	Liver	Liver
13	chr14:64674800-64686800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:64674800-64689000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr14:64674800-64689000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr14:64674800-64692400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:64674800-64692600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:64674800-64692800	Strong transcription	Primary T cells from cord blood	blood
19	chr14:64674800-64695800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:64674800-64696000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:64674800-64696000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:64674800-64696000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:64674800-64696200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:64674800-64696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:64674800-64696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:64674800-64696400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:64674800-64696400	Strong transcription	Dnd41	blood
28	chr14:64674800-64696800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:64674800-64697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:64674800-64698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:64674800-64699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:64674800-64700000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
34	chr14:64675000-64685000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:64675000-64689000	Strong transcription	Aorta	Aorta
36	chr14:64675000-64696400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:64675000-64696400	Strong transcription	Brain Germinal Matrix	brain
38	chr14:64675200-64696400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:64675400-64687600	Strong transcription	Brain Anterior Caudate	brain
40	chr14:64675400-64689200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr14:64675400-64695200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:64675400-64696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:64675600-64691800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:64676200-64690000	Weak transcription	Stomach Mucosa	stomach
45	chr14:64676600-64689000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:64676600-64696200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:64676800-64691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:64676800-64698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:64677000-64687200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:64677000-64698600	Weak transcription	NHLF	lung

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