Variant report

Variant	rs3742887
Chromosome Location	chr14:69262441-69262442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:369)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:69262333-69264410	K562	blood:	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	TBP	chr14:69262270-69263427	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:69262417-69263053	A549	lung:	n/a	n/a
6	CREB1	chr14:69262133-69263492	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr14:69262215-69263441	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA1	chr14:69262430-69264491	PBDE	blood:	n/a	chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263767-69263776 chr14:69263869-69263890
9	RAD21	chr14:69262244-69263058	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr14:69262153-69263392	GM12878	blood:	n/a	n/a
11	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
12	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
13	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
14	POLR2A	chr14:69262126-69263147	MCF-7	breast:	n/a	n/a
15	PML	chr14:69258860-69263235	MCF-7	breast:	n/a	n/a
16	TCF3	chr14:69262157-69263439	GM12878	blood:	n/a	n/a
17	TAF7	chr14:69262070-69262459	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr14:69262155-69263138	K562	blood:	n/a	n/a
19	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:69262221-69262529	HepG2	liver:	n/a	n/a
21	POU2F2	chr14:69262258-69263134	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
24	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
25	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
26	TEAD4	chr14:69262227-69263522	ECC-1	luminal epithelium:	n/a	n/a
27	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
28	EP300	chr14:69261098-69263133	SK-N-SH	brain:	n/a	chr14:69261261-69261270
29	MEF2A	chr14:69262186-69263461	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
31	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
32	TAF1	chr14:69262185-69263205	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:69261002-69262957	HepG2	liver:	n/a	n/a
34	E2F6	chr14:69261926-69263253	K562	blood:	n/a	chr14:69262660-69262671
35	POLR2A	chr14:69259992-69263223	GM12891	blood:	n/a	n/a
36	MAX	chr14:69262143-69263038	A549	lung:	n/a	n/a
37	YY1	chr14:69262126-69263413	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
39	E2F6	chr14:69262034-69263540	A549	lung:	n/a	chr14:69262660-69262671
40	POLR2A	chr14:69255146-69263257	GM18526	blood:	n/a	n/a
41	POLR2A	chr14:69262143-69263028	PANC-1	pancreas:	n/a	n/a
42	SIN3A	chr14:69262127-69263226	GM12878	blood:	n/a	n/a
43	CEBPD	chr14:69262218-69262511	HepG2	liver:	n/a	n/a
44	HEY1	chr14:69257251-69263120	HepG2	liver:	n/a	chr14:69260559-69260574 chr14:69260178-69260187 chr14:69260176-69260185
45	FOXA1	chr14:69262298-69262547	T-47D	breast:	n/a	n/a
46	POU2F2	chr14:69262196-69262901	GM12878	blood:	n/a	n/a
47	YY1	chr14:69262029-69263292	HepG2	liver:	n/a	n/a
48	FOXM1	chr14:69259272-69263580	GM12878	blood:	n/a	chr14:69261347-69261355
49	POLR2A	chr14:69259475-69263112	K562	blood:	n/a	n/a
50	TCF3	chr14:69262217-69262964	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69262391-69262441	HCT-116	colon:	n/a
2	chr14:69262391-69262441	NHDF-neo	bronchial:	n/a
3	chr14:69262391-69262441	HCPEpiC	choroid plexus:	n/a
4	chr14:69262391-69262441	RPTEC	kidney:	n/a
5	chr14:69262391-69262441	NB4	blood:	n/a
6	chr14:69262391-69262441	HRCEpiC	kidney:	n/a
7	chr14:69262391-69262441	GM19239	blood:	n/a
8	chr14:69262391-69262441	SKMC	muscle:	n/a
9	chr14:69262391-69262441	SK-N-MC	brain:	n/a
10	chr14:69262391-69262441	HAEpiC	amniotic membrane:	n/a
11	chr14:69262391-69262441	HEK293	kidney:	embryo
12	chr14:69262391-69262441	HRE	kidney:	n/a
13	chr14:69262391-69262441	GM12892	blood:	n/a
14	chr14:69262391-69262441	GM06990	blood:	n/a
15	chr14:69262391-69262441	U87	brain:	n/a
16	chr14:69262391-69262441	ProgFib	skin:	n/a
17	chr14:69262391-69262441	BE2_C	brain:	n/a
18	chr14:69262391-69262441	ECC-1	luminal epithelium:	n/a
19	chr14:69262391-69262441	SAEC	small airway:	n/a
20	chr14:69262391-69262441	NT2-D1	testis:	n/a
21	chr14:69262391-69262441	HL-60	blood:	n/a
22	chr14:69262391-69262441	BJ	skin:	n/a
23	chr14:69262391-69262441	IMR90	lung:	fetal
24	chr14:69262391-69262441	HEEpiC	esophagus:	n/a
25	chr14:69262391-69262441	HepG2	liver:	n/a
26	chr14:69262391-69262441	PrEC	prostate:	n/a
27	chr14:69262391-69262441	K562	blood:	n/a
28	chr14:69262391-69262441	GM12878	blood:	n/a
29	chr14:69262391-69262441	HCF	heart:	n/a
30	chr14:69262391-69262441	HIPEpiC	eye:	n/a
31	chr14:69262391-69262441	Hela-S3	cervix:	n/a
32	chr14:69262391-69262441	HUVEC	blood vessel:	n/a
33	chr14:69262391-69262441	AG04450	lung:	fetal
34	chr14:69262391-69262441	PANC-1	pancreas:	n/a
35	chr14:69262391-69262441	AG04449	skin:	fetal
36	chr14:69262391-69262441	PFSK-1	brain:	n/a
37	chr14:69262391-69262441	ovcar-3	ovarian:	n/a
38	chr14:69262391-69262441	AoSMC	blood vessel:	n/a
39	chr14:69262391-69262441	H1-hESC	embryonic stem cell:	embryo
40	chr14:69262391-69262441	HNPCEpiC	eye:	n/a
41	chr14:69262391-69262441	AG09309	skin:	n/a
42	chr14:69262391-69262441	A549	lung:	n/a
43	chr14:69262391-69262441	MCF10A-Er-Src	breast:	n/a
44	chr14:69262391-69262441	AG09319	gingival:	n/a
45	chr14:69262391-69262441	SK-N-SH	brain:	n/a
46	chr14:69262391-69262441	HCM	heart:	n/a
47	chr14:69262391-69262441	GM12891	blood:	n/a
48	chr14:69262391-69262441	Hepatocyte	liver:	n/a
49	chr14:69262391-69262441	T-47D	breast:	n/a
50	chr14:69262391-69262441	NH-A	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:69261403..69263120-chr2:70313914..70316078,2	MCF-7	breast:
3	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
4	chr14:68287568..68289831-chr14:69259841..69262482,2	K562	blood:
5	chr14:69261744..69262593-chr6:144164041..144164898,2	HCT-116	colon:
6	chr14:68852547..68854208-chr14:69260882..69263512,3	MCF-7	breast:
7	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
8	chr14:69261146..69262808-chr16:3012720..3015458,2	MCF-7	breast:
9	chr12:80328974..80330991-chr14:69261768..69263404,2	MCF-7	breast:
10	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
11	chr14:69260918..69263431-chr14:69412114..69414632,2	MCF-7	breast:
12	chr14:68324608..68326909-chr14:69260185..69262746,3	MCF-7	breast:
13	chr14:69261001..69262599-chr16:70379139..70381962,2	MCF-7	breast:
14	chr14:69261479..69262461-chr8:144717626..144718589,2	HCT-116	colon:
15	chr14:69261884..69262787-chr17:56736530..56737125,2	MCF-7	breast:
16	chr14:69261005..69262650-chr17:56736085..56738041,2	MCF-7	breast:
17	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
18	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
19	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
20	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
21	chr14:69259571..69263343-chr17:57914028..57917030,5	MCF-7	breast:
22	chr12:70636393..70637234-chr14:69262083..69262711,2	Hela-S3	cervix:
23	chr1:151030501..151032786-chr14:69259959..69262538,2	MCF-7	breast:
24	chr14:69201544..69205045-chr14:69260784..69263529,4	K562	blood:
25	chr14:69157110..69160057-chr14:69260929..69262922,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZFP36L1	TF binding region
ZFP36L1	CpG island
ENSG00000183309	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000242941	Chromatin interaction
ENSG00000207089	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000259062	Chromatin interaction
ENSG00000135521	Chromatin interaction
ENSG00000131650	Chromatin interaction
ENSG00000058272	Chromatin interaction
ENSG00000169564	Chromatin interaction
ENSG00000257815	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000111596	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10142466	0.90[ASN][1000 genomes]
rs11158762	0.81[JPT][hapmap]
rs11626883	0.90[ASN][1000 genomes]
rs12889006	0.87[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1465788	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1595260	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1595261	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106304	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17835641	0.90[ASN][1000 genomes]
rs17835647	0.90[ASN][1000 genomes]
rs1836984	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194748	0.97[ASN][1000 genomes]
rs194749	0.92[ASN][1000 genomes]
rs194751	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194778	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2236262	0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236263	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34489253	0.93[ASN][1000 genomes]
rs367677	0.94[ASN][1000 genomes]
rs3825568	0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4899258	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899259	0.97[ASN][1000 genomes]
rs4902651	0.90[ASN][1000 genomes]
rs6573857	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146217	0.88[JPT][hapmap];0.84[YRI][hapmap]
rs7149271	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156516	0.97[ASN][1000 genomes]
rs8011558	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8022092	0.93[ASN][1000 genomes]
rs927292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3742887	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69255400-69263200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:69256200-69263000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:69256400-69263200	Active TSS	Primary T cells from cord blood	blood
4	chr14:69256600-69263000	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr14:69256800-69263200	Active TSS	Small Intestine	intestine
6	chr14:69257200-69263200	Active TSS	Aorta	Aorta
7	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:69257400-69262800	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:69257400-69263000	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr14:69257400-69263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:69257400-69263200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:69257400-69263200	Active TSS	Ovary	ovary
15	chr14:69257400-69263200	Active TSS	Spleen	Spleen
16	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:69257600-69263000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:69257600-69263000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:69257600-69263000	Active TSS	Pancreas	Pancrea
20	chr14:69257600-69263200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:69257600-69263200	Active TSS	Fetal Kidney	kidney
22	chr14:69257600-69263200	Active TSS	Gastric	stomach
23	chr14:69257600-69263400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:69257800-69263000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69257800-69263000	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:69257800-69263000	Active TSS	Lung	lung
27	chr14:69257800-69263000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr14:69257800-69263400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:69258000-69263000	Active TSS	Liver	Liver
30	chr14:69258000-69263200	Active TSS	Psoas Muscle	Psoas
31	chr14:69258000-69263400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:69258200-69263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:69258200-69263000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:69258200-69263200	Active TSS	Right Ventricle	heart
35	chr14:69258200-69263400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:69258400-69263000	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:69258400-69263000	Active TSS	Fetal Intestine Large	intestine
38	chr14:69258400-69263000	Active TSS	Thymus	Thymus
39	chr14:69258400-69263200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr14:69258400-69263200	Active TSS	Left Ventricle	heart
41	chr14:69258400-69263400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:69258600-69263000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:69258600-69263000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:69258600-69263000	Active TSS	Esophagus	oesophagus
45	chr14:69258600-69263000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr14:69258600-69263200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr14:69258600-69263400	Active TSS	Colonic Mucosa	Colon
48	chr14:69258800-69263000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:69258800-69263000	Active TSS	Stomach Smooth Muscle	stomach
50	chr14:69258800-69263000	Active TSS	A549	lung

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