Variant report

Variant	rs766079
Chromosome Location	chr14:63924402-63924403
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	RAD21	chr14:63924242-63924477	H1-hESC	embryonic stem cell:	n/a	chr14:63924353-63924372
2	FOXA1	chr14:63924255-63924506	HepG2	liver:	n/a	n/a
3	SMC3	chr14:63924190-63924588	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:63924235-63924608	Hela-S3	cervix:	n/a	chr14:63924431-63924442
5	SMC3	chr14:63924201-63924599	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr14:63924078-63924608	HepG2	liver:	n/a	chr14:63924353-63924372
7	CEBPB	chr14:63924286-63924542	A549	lung:	n/a	chr14:63924431-63924442
8	GTF2F1	chr14:63924383-63924486	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:63924254-63924612	HepG2	liver:	n/a	chr14:63924431-63924442
10	HDAC2	chr14:63924257-63924592	HepG2	liver:	n/a	n/a
11	MYBL2	chr14:63924152-63924639	HepG2	liver:	n/a	n/a
12	CTCF	chr14:63924297-63924412	MCF-7	breast:	n/a	chr14:63924352-63924370
13	RAD21	chr14:63924182-63924571	Hela-S3	cervix:	n/a	chr14:63924353-63924372
14	CTCF	chr14:63924259-63924444	Hela-S3	cervix:	n/a	chr14:63924352-63924370
15	CTCF	chr14:63924299-63924407	MCF-7	breast:	n/a	chr14:63924352-63924370
16	CTCF	chr14:63924300-63924450	Caco-2	colon:	n/a	chr14:63924352-63924370
17	MYBL2	chr14:63924134-63924723	HepG2	liver:	n/a	n/a
18	CTCF	chr14:63924287-63924447	HepG2	liver:	n/a	chr14:63924352-63924370
19	CTCF	chr14:63924260-63924410	Caco-2	colon:	n/a	chr14:63924352-63924370
20	CTCF	chr14:63924300-63924450	BE2_C	brain:	n/a	chr14:63924352-63924370
21	CTCF	chr14:63924239-63924460	HepG2	liver:	n/a	chr14:63924352-63924370
22	CHD2	chr14:63924343-63924543	HepG2	liver:	n/a	n/a
23	RAD21	chr14:63924230-63924478	HepG2	liver:	n/a	chr14:63924353-63924372
24	CEBPB	chr14:63924330-63924503	HepG2	liver:	n/a	chr14:63924431-63924442
25	RAD21	chr14:63924231-63924573	HepG2	liver:	n/a	chr14:63924353-63924372
26	CTCF	chr14:63924333-63924412	Pancreas_OC	pancreas:	n/a	chr14:63924352-63924370
27	ARID3A	chr14:63924224-63924629	HepG2	liver:	n/a	n/a
28	CTCF	chr14:63924302-63924417	MCF-7	breast:	n/a	chr14:63924352-63924370
29	RFX5	chr14:63924223-63924555	HepG2	liver:	n/a	n/a
30	CTCF	chr14:63924300-63924450	HepG2	liver:	n/a	chr14:63924352-63924370
31	MAX	chr14:63924388-63924526	Hela-S3	cervix:	n/a	n/a
32	CUX1	chr14:63924379-63924546	K562	blood:	n/a	n/a
33	CTCF	chr14:63924171-63924523	HepG2	liver:	n/a	chr14:63924352-63924370
34	JUND	chr14:63924334-63924567	HepG2	liver:	n/a	n/a
35	CTCF	chr14:63924252-63924458	K562	blood:	n/a	chr14:63924352-63924370
36	RXRA	chr14:63924242-63924550	HepG2	liver:	n/a	chr14:63924278-63924287
37	CTCF	chr14:63924286-63924438	MCF-7	breast:	n/a	chr14:63924352-63924370

No.	Distal block	Cell Line	Cell type
1	chr14:63916512..63919092-chr14:63921738..63924615,2	K562	blood:
2	chr14:63922783..63925693-chr14:64008937..64011291,3	K562	blood:
3	chr14:63924386..63926717-chr14:63929643..63931464,2	MCF-7	breast:
4	chr14:63922783..63926414-chr14:64008937..64011342,3	K562	blood:
5	chr14:63920410..63922816-chr14:63923687..63926505,4	K562	blood:

Variant related genes	Relation type
PPP2R5E	TF binding region
ENSG00000261242	Chromatin interaction
ENSG00000264995	Chromatin interaction
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11846721	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11848219	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851954	1.00[CEU][hapmap]
rs17225189	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2356463	1.00[CEU][hapmap]
rs58297905	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61987169	0.93[ASN][1000 genomes]
rs73272599	0.90[EUR][1000 genomes];0.95[ASN][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63905000-63925800	Weak transcription	Stomach Mucosa	stomach
2	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:63905400-63926400	Weak transcription	Aorta	Aorta
4	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
5	chr14:63905600-63927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:63906000-63934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:63907000-63924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:63907000-63935000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:63907200-63926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:63916400-63927600	Weak transcription	HMEC	breast
11	chr14:63916600-63927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:63917200-63926400	Weak transcription	Fetal Kidney	kidney
13	chr14:63917400-63926600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:63919800-63937400	Weak transcription	NHLF	lung
15	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
16	chr14:63920000-63934400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
18	chr14:63920400-63926800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:63920400-63930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:63920400-63930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:63920400-63934600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:63920400-63937600	Weak transcription	Fetal Intestine Large	intestine
23	chr14:63920600-63925000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:63920600-63926800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:63920600-63926800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:63920600-63934400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:63920600-63937800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:63920800-63926600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:63920800-63931000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:63920800-63934400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:63920800-63936000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:63920800-63936800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:63921000-63930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:63921000-63937600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:63921000-63937600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:63921000-63937800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:63921000-63944600	Weak transcription	Dnd41	blood
38	chr14:63921200-63935200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:63921600-63937600	Weak transcription	Fetal Stomach	stomach
40	chr14:63922000-63924600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:63922000-63926400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:63922000-63926400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:63922000-63926600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:63922000-63926600	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:63922000-63926800	Weak transcription	Psoas Muscle	Psoas
46	chr14:63922000-63927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:63922000-63927600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:63922000-63934400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:63922000-63935000	Weak transcription	NH-A	brain
50	chr14:63922000-63935200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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