Variant report

Variant	rs3809391
Chromosome Location	chr14:69260849-69260850
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	POLR2A	chr14:69258910-69261726	MCF-7	breast:	n/a	n/a
2	NFIC	chr14:69258747-69263739	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:69250963-69263207	U87	brain:	n/a	n/a
4	JUND	chr14:69258904-69261961	HCT-116	colon:	n/a	chr14:69259933-69259942 chr14:69260177-69260186 chr14:69261262-69261271
5	JUN	chr14:69259457-69260853	K562	blood:	n/a	chr14:69260176-69260189 chr14:69259933-69259942 chr14:69260177-69260186
6	PBX3	chr14:69258047-69262185	A549	lung:	n/a	n/a
7	POLR2A	chr14:69260747-69261099	A549	lung:	n/a	n/a
8	EP300	chr14:69260700-69261983	K562	blood:	n/a	chr14:69261261-69261270
9	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
10	BACH1	chr14:69260614-69261431	K562	blood:	n/a	n/a
11	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
12	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
13	MAX	chr14:69259154-69261941	Hela-S3	cervix:	n/a	n/a
14	MAX	chr14:69260794-69261006	H1-hESC	embryonic stem cell:	n/a	n/a
15	PML	chr14:69258860-69263235	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
17	SIX5	chr14:69260721-69261990	A549	lung:	n/a	n/a
18	RCOR1	chr14:69260841-69262021	K562	blood:	n/a	n/a
19	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
21	EP300	chr14:69258805-69263522	ECC-1	luminal epithelium:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
22	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr14:69259106-69262013	GM12878	blood:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
24	POLR2A	chr14:69260036-69261753	A549	lung:	n/a	n/a
25	POU2F2	chr14:69259437-69262005	GM12891	blood:	n/a	chr14:69260641-69260653 chr14:69261039-69261051 chr14:69259924-69259936
26	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
27	WRNIP1	chr14:69260725-69261956	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
29	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
30	MAX	chr14:69259255-69261823	HepG2	liver:	n/a	n/a
31	HDAC2	chr14:69257848-69261541	MCF-7	breast:	n/a	chr14:69260034-69260048 chr14:69260037-69260051 chr14:69260032-69260046 chr14:69260036-69260050 chr14:69258035-69258049 chr14:69260118-69260127 chr14:69260038-69260052 chr14:69258424-69258438 chr14:69260039-69260053 chr14:69260035-69260049 chr14:69258425-69258439
32	POLR2A	chr14:69259992-69263223	GM12891	blood:	n/a	n/a
33	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
34	POLR2A	chr14:69255146-69263257	GM18526	blood:	n/a	n/a
35	ZBTB7A	chr14:69258972-69261876	ECC-1	luminal epithelium:	n/a	chr14:69260142-69260151 chr14:69260099-69260108
36	HEY1	chr14:69257251-69263120	HepG2	liver:	n/a	chr14:69260559-69260574 chr14:69260178-69260187 chr14:69260176-69260185
37	E2F6	chr14:69259456-69261717	K562	blood:	n/a	chr14:69261029-69261037 chr14:69261029-69261036 chr14:69260178-69260187 chr14:69261029-69261040 chr14:69260176-69260185 chr14:69261028-69261038 chr14:69260617-69260627 chr14:69261030-69261041 chr14:69260141-69260150 chr14:69261029-69261037 chr14:69261028-69261039
38	POLR2A	chr14:69260731-69261045	SK-N-SH	brain:	n/a	n/a
39	FOXM1	chr14:69259272-69263580	GM12878	blood:	n/a	chr14:69261347-69261355
40	POLR2A	chr14:69259475-69263112	K562	blood:	n/a	n/a
41	ZNF263	chr14:69260127-69261830	HEK293-T-REx	kidney:	n/a	chr14:69260926-69260947 chr14:69260859-69260868
42	POLR2A	chr14:69258790-69262017	HepG2	liver:	n/a	n/a
43	ETS1	chr14:69260679-69261192	A549	lung:	n/a	n/a
44	ZBTB7A	chr14:69260440-69260892	K562	blood:	n/a	n/a
45	ZBTB7A	chr14:69260376-69260943	K562	blood:	n/a	n/a
46	MXI1	chr14:69258904-69262005	IMR90	lung:	n/a	n/a
47	POLR2A	chr14:69252481-69263392	GM18505	blood:	n/a	n/a
48	MAX	chr14:69258724-69261645	HepG2	liver:	n/a	n/a
49	HDAC2	chr14:69260787-69261468	HepG2	liver:	n/a	n/a
50	POLR2A	chr14:69258844-69262011	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:68350452..68352881-chr14:69258194..69261622,3	MCF-7	breast:
3	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
4	chr14:69259232..69261632-chr8:144820285..144822517,2	MCF-7	breast:
5	chr14:68287568..68289831-chr14:69259841..69262482,2	K562	blood:
6	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
7	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
8	chr14:69259502..69261269-chr3:45051532..45054182,2	MCF-7	breast:
9	chr14:69260590..69261333-chr9:131450927..131451781,2	Hela-S3	cervix:
10	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
11	chr14:69260345..69260868-chr17:26879135..26880015,2	Hela-S3	cervix:
12	chr14:68324608..68326909-chr14:69260185..69262746,3	MCF-7	breast:
13	chr14:69260166..69261161-chr6:99872839..99873483,2	MCF-7	breast:
14	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
15	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
16	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
17	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
18	chr14:69259571..69263343-chr17:57914028..57917030,5	MCF-7	breast:
19	chr1:151030501..151032786-chr14:69259959..69262538,2	MCF-7	breast:
20	chr12:110150683..110153052-chr14:69259292..69261807,2	MCF-7	breast:
21	chr14:69201544..69205045-chr14:69260784..69263529,4	K562	blood:
22	chr14:69259781..69261291-chr6:133134489..133136848,2	MCF-7	breast:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000112306	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000132424	Chromatin interaction
ENSG00000109103	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000259062	Chromatin interaction
ENSG00000139438	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000075914	Chromatin interaction
ENSG00000207089	Chromatin interaction
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs194726	1.00[YRI][hapmap]
rs194753	1.00[YRI][hapmap]
rs73281024	0.89[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69255000-69262400	Active TSS	Right Atrium	heart
2	chr14:69255400-69263200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:69256200-69263000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:69256400-69263200	Active TSS	Primary T cells from cord blood	blood
5	chr14:69256600-69263000	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr14:69256800-69263200	Active TSS	Small Intestine	intestine
7	chr14:69257200-69261400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:69257200-69263200	Active TSS	Aorta	Aorta
9	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr14:69257400-69261200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr14:69257400-69262800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:69257400-69263000	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr14:69257400-69263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:69257400-69263200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:69257400-69263200	Active TSS	Ovary	ovary
18	chr14:69257400-69263200	Active TSS	Spleen	Spleen
19	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:69257600-69261000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:69257600-69263000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:69257600-69263000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:69257600-69263000	Active TSS	Pancreas	Pancrea
24	chr14:69257600-69263200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:69257600-69263200	Active TSS	Fetal Kidney	kidney
26	chr14:69257600-69263200	Active TSS	Gastric	stomach
27	chr14:69257600-69263400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:69257800-69261400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:69257800-69263000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69257800-69263000	Active TSS	Duodenum Mucosa	Duodenum
31	chr14:69257800-69263000	Active TSS	Lung	lung
32	chr14:69257800-69263000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr14:69257800-69263400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:69258000-69263000	Active TSS	Liver	Liver
35	chr14:69258000-69263200	Active TSS	Psoas Muscle	Psoas
36	chr14:69258000-69263400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr14:69258200-69263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:69258200-69263000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:69258200-69263200	Active TSS	Right Ventricle	heart
40	chr14:69258200-69263400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr14:69258400-69262000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
42	chr14:69258400-69263000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:69258400-69263000	Active TSS	Fetal Intestine Large	intestine
44	chr14:69258400-69263000	Active TSS	Thymus	Thymus
45	chr14:69258400-69263200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr14:69258400-69263200	Active TSS	Left Ventricle	heart
47	chr14:69258400-69263400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:69258600-69263000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:69258600-69263000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:69258600-69263000	Active TSS	Esophagus	oesophagus

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