Variant report

Variant	rs174213
Chromosome Location	chr14:69310512-69310513
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	ATF2	chr14:69310468-69311040	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:69310347-69311203	A549	lung:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
3	POLR2A	chr14:69308402-69313986	K562	blood:	n/a	n/a
4	RAD21	chr14:69310414-69311002	H1-hESC	embryonic stem cell:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
5	MAZ	chr14:69310166-69311123	IMR90	lung:	n/a	n/a
6	CTCF	chr14:69310474-69311107	HCT-116	colon:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
7	TAF1	chr14:69310487-69310958	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr14:69310437-69311135	SK-N-SH	brain:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
9	RAD21	chr14:69310419-69311135	HCT-116	colon:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
10	REST	chr14:69310366-69311098	H1-neurons	neurons:	n/a	chr14:69310808-69310828 chr14:69310385-69310398
11	RAD21	chr14:69310495-69311181	HCT-116	colon:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
12	SMC3	chr14:69310256-69311247	SK-N-SH	brain:	n/a	chr14:69310843-69310857 chr14:69310843-69310853
13	RAD21	chr14:69310428-69311104	ECC-1	luminal epithelium:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
14	POLR2A	chr14:69310431-69310737	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:69310400-69310550	GM12866	blood:	n/a	n/a
16	POLR2A	chr14:69310440-69310837	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr14:69310443-69311164	MCF-7	breast:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
18	MAX	chr14:69310406-69311123	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:69310393-69311334	SK-N-SH	brain:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
20	CTCF	chr14:69310420-69310570	RPTEC	kidney:	n/a	n/a
21	RAD21	chr14:69310438-69311225	A549	lung:	n/a	chr14:69310845-69310859 chr14:69310839-69310858 chr14:69310848-69310857 chr14:69310843-69310857
22	TBP	chr14:69310427-69310949	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:
2	chr14:68410292..68410837-chr14:69310354..69311298,3	K562	blood:
3	chr14:69310440..69310975-chr14:69320264..69321205,2	MCF-7	breast:
4	chr14:68400449..68401133-chr14:69310362..69311096,2	MCF-7	breast:
5	chr14:69291332..69292211-chr14:69310396..69311019,5	MCF-7	breast:

Variant related genes	Relation type
RN7SL224P	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs194729	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194733	0.82[CHB][hapmap]
rs434943	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2755940	chr14:69301705-69318262	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs174213	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
3	chr14:69307200-69310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69307400-69311200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:69307800-69320400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
7	chr14:69308000-69310800	Enhancers	Fetal Lung	lung
8	chr14:69308400-69320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:69308600-69320400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:69308800-69310600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:69308800-69310600	Weak transcription	HMEC	breast
12	chr14:69309200-69310800	Enhancers	Esophagus	oesophagus
13	chr14:69309600-69310600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:69309800-69310600	Weak transcription	NH-A	brain
15	chr14:69309800-69310800	Enhancers	Fetal Brain Male	brain
16	chr14:69309800-69310800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr14:69310000-69310600	Enhancers	Fetal Thymus	thymus
18	chr14:69310000-69310800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:69310000-69310800	Enhancers	Left Ventricle	heart
20	chr14:69310000-69310800	Enhancers	Right Ventricle	heart
21	chr14:69310200-69310600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:69310200-69310600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:69310200-69310600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:69310200-69310600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr14:69310200-69310600	Active TSS	HepG2	liver
26	chr14:69310200-69310800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr14:69310200-69310800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:69310200-69310800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69310200-69310800	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr14:69310200-69310800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:69310200-69310800	Enhancers	Fetal Heart	heart
32	chr14:69310200-69310800	Enhancers	Pancreas	Pancrea
33	chr14:69310200-69310800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr14:69310200-69310800	Enhancers	GM12878-XiMat	blood
35	chr14:69310200-69311200	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:69310400-69310600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr14:69310400-69310600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr14:69310400-69310600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:69310400-69310600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:69310400-69310600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:69310400-69310600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:69310400-69310600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:69310400-69310600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:69310400-69310600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:69310400-69310600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:69310400-69310600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:69310400-69310600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr14:69310400-69310600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr14:69310400-69310600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr14:69310400-69310600	Flanking Active TSS	Ovary	ovary

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