Variant report

Variant	rs2236262
Chromosome Location	chr14:69261472-69261473
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	SP1	chr14:69261119-69261556	GM12878	blood:	n/a	chr14:69261409-69261421 chr14:69261411-69261420 chr14:69261168-69261180 chr14:69261409-69261421
6	NFIC	chr14:69261411-69261992	HepG2	liver:	n/a	n/a
7	TAF1	chr14:69261472-69261980	K562	blood:	n/a	n/a
8	PBX3	chr14:69258047-69262185	A549	lung:	n/a	n/a
9	EP300	chr14:69260700-69261983	K562	blood:	n/a	chr14:69261261-69261270
10	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
11	MAX	chr14:69261223-69261947	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
13	MAX	chr14:69261047-69261616	SK-N-SH	brain:	n/a	n/a
14	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
15	MAX	chr14:69259154-69261941	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr14:69261172-69261645	SK-N-SH	brain:	n/a	n/a
17	PML	chr14:69258860-69263235	MCF-7	breast:	n/a	n/a
18	FOXA1	chr14:69261126-69261510	T-47D	breast:	n/a	n/a
19	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
20	SIX5	chr14:69260721-69261990	A549	lung:	n/a	n/a
21	USF2	chr14:69260856-69261838	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr14:69260841-69262021	K562	blood:	n/a	n/a
23	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
25	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
26	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
27	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
28	POLR2A	chr14:69260036-69261753	A549	lung:	n/a	n/a
29	POU2F2	chr14:69259437-69262005	GM12891	blood:	n/a	chr14:69260641-69260653 chr14:69261039-69261051 chr14:69259924-69259936
30	TEAD4	chr14:69261089-69261580	HepG2	liver:	n/a	n/a
31	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
32	EP300	chr14:69261098-69263133	SK-N-SH	brain:	n/a	chr14:69261261-69261270
33	WRNIP1	chr14:69260725-69261956	GM12878	blood:	n/a	n/a
34	ZNF384	chr14:69261251-69261661	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
36	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
37	POLR2A	chr14:69261002-69262957	HepG2	liver:	n/a	n/a
38	CEBPB	chr14:69261169-69261484	HepG2	liver:	n/a	chr14:69261397-69261409
39	MAX	chr14:69259255-69261823	HepG2	liver:	n/a	n/a
40	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
41	POLR2A	chr14:69259992-69263223	GM12891	blood:	n/a	n/a
42	ATF2	chr14:69261113-69262062	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
44	POLR2A	chr14:69255146-69263257	GM18526	blood:	n/a	n/a
45	CEBPB	chr14:69261140-69261987	A549	lung:	n/a	chr14:69261397-69261409
46	ZBTB7A	chr14:69258972-69261876	ECC-1	luminal epithelium:	n/a	chr14:69260142-69260151 chr14:69260099-69260108
47	MAX	chr14:69260977-69261550	HUVEC	blood vessel:	n/a	n/a
48	CEBPB	chr14:69261099-69262131	MCF-7	breast:	n/a	chr14:69261397-69261409
49	JUND	chr14:69261103-69261519	HepG2	liver:	n/a	chr14:69261262-69261271
50	POU2F2	chr14:69261466-69261763	GM12878	blood:	n/a	n/a

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	chr14:68350452..68352881-chr14:69258194..69261622,3	MCF-7	breast:
4	chr14:69261056..69261660-chr18:12948036..12948571,2	HCT-116	colon:
5	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
6	chr14:69259232..69261632-chr8:144820285..144822517,2	MCF-7	breast:
7	chr14:68287568..68289831-chr14:69259841..69262482,2	K562	blood:
8	chr14:68852547..68854208-chr14:69260882..69263512,3	MCF-7	breast:
9	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
10	chr14:69261146..69262808-chr16:3012720..3015458,2	MCF-7	breast:
11	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
12	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
13	chr14:69260918..69263431-chr14:69412114..69414632,2	MCF-7	breast:
14	chr14:68324608..68326909-chr14:69260185..69262746,3	MCF-7	breast:
15	chr14:69261001..69262599-chr16:70379139..70381962,2	MCF-7	breast:
16	chr1:37940098..37940811-chr14:69261461..69262254,2	Hela-S3	cervix:
17	chr12:6976474..6977074-chr14:69261301..69261953,2	HCT-116	colon:
18	chr14:69261005..69262650-chr17:56736085..56738041,2	MCF-7	breast:
19	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
20	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
21	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
22	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
23	chr14:69259571..69263343-chr17:57914028..57917030,5	MCF-7	breast:
24	chr1:151030501..151032786-chr14:69259959..69262538,2	MCF-7	breast:
25	chr12:110150683..110153052-chr14:69259292..69261807,2	MCF-7	breast:
26	chr14:69201544..69205045-chr14:69260784..69263529,4	K562	blood:
27	chr12:7053168..7053737-chr14:69260955..69261500,2	Hela-S3	cervix:
28	chr14:69157110..69160057-chr14:69260929..69262922,3	MCF-7	breast:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000199004	Chromatin interaction
ENSG00000131650	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000259062	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000242941	Chromatin interaction
ENSG00000207089	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000139438	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000169564	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10142466	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158763	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11626883	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12434551	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12435329	0.81[EUR][1000 genomes]
rs12889006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1465788	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1595260	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1595261	0.88[ASN][1000 genomes]
rs168961	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17106304	0.88[ASN][1000 genomes]
rs17835641	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17835647	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1836984	0.90[ASN][1000 genomes]
rs194746	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs194747	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs194748	0.85[ASN][1000 genomes]
rs194749	0.90[ASN][1000 genomes]
rs194751	0.88[ASN][1000 genomes]
rs194778	0.85[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2236263	0.87[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs34489253	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36132266	0.91[AMR][1000 genomes]
rs367677	0.82[ASN][1000 genomes]
rs3742887	0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs3825568	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899258	0.90[ASN][1000 genomes]
rs4899259	0.85[ASN][1000 genomes]
rs4899263	0.81[EUR][1000 genomes]
rs4902647	1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902651	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573857	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs7146217	0.83[GIH][hapmap]
rs7149271	0.90[ASN][1000 genomes]
rs7156516	0.85[ASN][1000 genomes]
rs747854	0.83[GIH][hapmap]
rs8011558	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs8022092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs927292	0.87[CHB][hapmap];0.88[JPT][hapmap];0.85[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2236262	ZFP36L1	cis	normal skin	skin_eQTL
rs2236262	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL
rs2236262	ZFP36L1	cis	lesional skin	skin_eQTL
rs2236262	ZFP36L1	cis	uninvolved skin	skin_eQTL

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	chr14:69257200-69263200	Active TSS	Aorta	Aorta
8	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:69257400-69262800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:69257400-69263000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr14:69257400-69263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:69257400-69263200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:69257400-69263200	Active TSS	Ovary	ovary
16	chr14:69257400-69263200	Active TSS	Spleen	Spleen
17	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69257600-69263000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:69257600-69263000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:69257600-69263000	Active TSS	Pancreas	Pancrea
21	chr14:69257600-69263200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:69257600-69263200	Active TSS	Fetal Kidney	kidney
23	chr14:69257600-69263200	Active TSS	Gastric	stomach
24	chr14:69257600-69263400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:69257800-69263000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69257800-69263000	Active TSS	Duodenum Mucosa	Duodenum
27	chr14:69257800-69263000	Active TSS	Lung	lung
28	chr14:69257800-69263000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr14:69257800-69263400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:69258000-69263000	Active TSS	Liver	Liver
31	chr14:69258000-69263200	Active TSS	Psoas Muscle	Psoas
32	chr14:69258000-69263400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr14:69258200-69263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:69258200-69263000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:69258200-69263200	Active TSS	Right Ventricle	heart
36	chr14:69258200-69263400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:69258400-69262000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr14:69258400-69263000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:69258400-69263000	Active TSS	Fetal Intestine Large	intestine
40	chr14:69258400-69263000	Active TSS	Thymus	Thymus
41	chr14:69258400-69263200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr14:69258400-69263200	Active TSS	Left Ventricle	heart
43	chr14:69258400-69263400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:69258600-69263000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:69258600-69263000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:69258600-69263000	Active TSS	Esophagus	oesophagus
47	chr14:69258600-69263000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:69258600-69263200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr14:69258600-69263400	Active TSS	Colonic Mucosa	Colon
50	chr14:69258800-69263000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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