Variant report

Variant	rs36108515
Chromosome Location	chr14:64804432-64804433
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64804413-64806396	K562	blood:	n/a	n/a
2	CEBPB	chr14:64803859-64805203	Hela-S3	cervix:	n/a	chr14:64804003-64804014
3	MAFK	chr14:64804336-64805110	Hela-S3	cervix:	n/a	n/a
4	PML	chr14:64804389-64806197	GM12878	blood:	n/a	n/a
5	MXI1	chr14:64804059-64806486	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr14:64804431-64804880	Hela-S3	cervix:	n/a	n/a
7	HCFC1	chr14:64803416-64806557	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:64804400-64806317	GM12892	blood:	n/a	n/a
9	MYC	chr14:64804089-64804835	MCF10A-Er-Src	breast:	n/a	n/a
10	REST	chr14:64804327-64806413	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr14:64804365-64806365	U87	brain:	n/a	n/a
12	POLR2A	chr14:64804411-64806207	GM12892	blood:	n/a	n/a
13	MAX	chr14:64804405-64806245	A549	lung:	n/a	n/a
14	POLR2A	chr14:64804375-64806391	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
2	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
3	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
4	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
5	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
6	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
7	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
8	chr14:64760837..64762667-chr14:64803979..64805522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214770	TF binding region
ENSG00000259116	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434779	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435278	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435307	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436020	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12436302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12437063	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437103	1.00[AMR][1000 genomes]
rs1571512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17226046	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952586	0.85[ASN][1000 genomes]
rs1956546	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28402888	0.92[ASN][1000 genomes]
rs28435160	0.92[ASN][1000 genomes]
rs28485225	0.93[ASN][1000 genomes]
rs28499370	0.91[ASN][1000 genomes]
rs28533821	0.92[ASN][1000 genomes]
rs28630894	0.89[ASN][1000 genomes]
rs34051517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34422347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742614	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3783733	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783735	0.95[ASN][1000 genomes]
rs3829768	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56735213	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58262369	0.91[AMR][1000 genomes]
rs59216189	0.95[ASN][1000 genomes]
rs59677654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573551	0.84[ASN][1000 genomes]
rs67160339	0.92[ASN][1000 genomes]
rs8019025	0.92[ASN][1000 genomes]
rs9788441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64802200-64804600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:64803200-64805800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:64803200-64806200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:64803400-64805800	Active TSS	GM12878-XiMat	blood
5	chr14:64803800-64804600	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:64803800-64804600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64803800-64804600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:64803800-64804600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:64803800-64804600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:64803800-64804600	Enhancers	Brain Angular Gyrus	brain
11	chr14:64803800-64804600	Enhancers	Small Intestine	intestine
12	chr14:64803800-64804600	Enhancers	Spleen	Spleen
13	chr14:64803800-64805800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:64803800-64806000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64803800-64806000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:64803800-64806200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:64803800-64806200	Active TSS	Brain Hippocampus Middle	brain
18	chr14:64803800-64806400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:64804000-64804600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:64804000-64805000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:64804000-64805200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:64804000-64805600	Active TSS	Fetal Thymus	thymus
23	chr14:64804000-64806200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:64804000-64806200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:64804000-64806200	Active TSS	Fetal Kidney	kidney
26	chr14:64804200-64804600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:64804200-64804600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:64804200-64804600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:64804200-64804600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:64804200-64804600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr14:64804200-64804800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr14:64804200-64804800	Flanking Active TSS	HUVEC	blood vessel
33	chr14:64804200-64805000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr14:64804200-64805600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:64804200-64805800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:64804200-64805800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64804200-64805800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:64804200-64805800	Active TSS	HMEC	breast
39	chr14:64804200-64805800	Active TSS	NH-A	brain
40	chr14:64804200-64805800	Active TSS	NHDF-Ad	bronchial
41	chr14:64804200-64806000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:64804200-64806000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:64804200-64806000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:64804200-64806000	Active TSS	Duodenum Mucosa	Duodenum
45	chr14:64804200-64806000	Active TSS	Fetal Brain Male	brain
46	chr14:64804200-64806000	Active TSS	Fetal Stomach	stomach
47	chr14:64804200-64806000	Active TSS	NHLF	lung
48	chr14:64804200-64806200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr14:64804200-64806200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:64804200-64806200	Active TSS	K562	blood

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