Variant report

Variant	rs194746
Chromosome Location	chr14:69282887-69282888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68851706..68853897-chr14:69281039..69283463,3	MCF-7	breast:
2	chr14:69086694..69088416-chr14:69280164..69284434,3	K562	blood:
3	chr14:68773035..68775365-chr14:69282821..69285727,2	MCF-7	breast:
4	chr14:69081849..69083731-chr14:69281900..69284171,2	MCF-7	breast:
5	chr14:68942896..68944476-chr14:69282297..69284211,2	MCF-7	breast:
6	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:
7	chr14:69282210..69284436-chr14:69319969..69321576,2	MCF-7	breast:
8	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
9	chr14:69282547..69283308-chr15:90808888..90809458,2	Hela-S3	cervix:
10	chr14:68726780..68728843-chr14:69282092..69284748,2	MCF-7	breast:
11	chr14:69086694..69088266-chr14:69281564..69284434,2	K562	blood:
12	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
13	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
14	chr14:69281688..69284260-chr20:48598525..48601262,2	MCF-7	breast:
15	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
16	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
17	chr14:68657723..68660507-chr14:69282289..69285612,3	MCF-7	breast:
18	chr14:69281086..69282985-chr14:69289138..69291882,2	K562	blood:
19	chr14:69281619..69283522-chr14:69291713..69294736,3	MCF-7	breast:
20	chr14:68722155..68724200-chr14:69282010..69284699,2	MCF-7	breast:
21	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
22	chr14:68607701..68609708-chr14:69282854..69284739,2	MCF-7	breast:
23	chr14:69276296..69278428-chr14:69281559..69284109,2	K562	blood:
24	chr14:69125254..69128271-chr14:69281181..69284141,4	MCF-7	breast:
25	chr14:68400277..68402859-chr14:69281865..69283593,2	MCF-7	breast:
26	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
27	chr14:69135931..69137955-chr14:69281903..69283827,2	MCF-7	breast:
28	chr14:68676342..68679181-chr14:69280243..69283048,2	MCF-7	breast:
29	chr14:69169762..69171613-chr14:69281684..69283717,2	MCF-7	breast:
30	chr14:68354841..68356509-chr14:69282085..69284702,3	MCF-7	breast:
31	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
32	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
33	chr14:68925315..68927272-chr14:69282656..69284660,2	MCF-7	breast:
34	chr14:69262467..69263379-chr14:69282705..69283477,3	MCF-7	breast:
35	chr14:69183344..69185118-chr14:69281326..69283453,2	K562	blood:
36	chr14:68710192..68712093-chr14:69280950..69283017,2	MCF-7	breast:
37	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
38	chr14:68429695..68431817-chr14:69281066..69283231,2	MCF-7	breast:
39	chr14:68834296..68836299-chr14:69281257..69283573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000182768	Chromatin interaction
ENSG00000124216	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10136476	0.81[EUR][1000 genomes]
rs10139345	0.85[EUR][1000 genomes]
rs10142466	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10143060	0.85[EUR][1000 genomes]
rs10143220	0.85[EUR][1000 genomes]
rs10873217	0.84[EUR][1000 genomes]
rs11158767	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11625403	0.85[EUR][1000 genomes]
rs11626883	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs168961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168962	0.98[ASN][1000 genomes]
rs17835641	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17835647	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs194747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236262	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34489253	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs402223	0.94[ASN][1000 genomes]
rs4288924	0.84[EUR][1000 genomes]
rs4899263	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899264	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902651	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902653	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902654	0.85[EUR][1000 genomes]
rs7142145	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7142589	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7149042	0.84[EUR][1000 genomes]
rs8022092	0.86[AMR][1000 genomes];0.96[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194746	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69276600-69286200	Weak transcription	Ovary	ovary
2	chr14:69279200-69283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69279800-69283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69279800-69283000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr14:69279800-69284000	Enhancers	Placenta	Placenta
6	chr14:69280000-69283000	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr14:69280000-69283000	Enhancers	Lung	lung
8	chr14:69280000-69283000	Flanking Active TSS	GM12878-XiMat	blood
9	chr14:69280000-69283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:69280200-69283000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:69280200-69284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr14:69280400-69283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:69280600-69283000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:69280600-69283000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr14:69280600-69283000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:69280600-69283000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr14:69280600-69283200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr14:69280600-69283200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:69280800-69283000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:69280800-69283000	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr14:69280800-69283000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:69280800-69283000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:69280800-69283000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:69280800-69283000	Enhancers	Right Ventricle	heart
25	chr14:69280800-69283000	Flanking Active TSS	Hela-S3	cervix
26	chr14:69280800-69283200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr14:69280800-69283400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:69280800-69283600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:69280800-69283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:69280800-69283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:69281000-69283000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:69281000-69283000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:69281000-69283000	Flanking Active TSS	Liver	Liver
34	chr14:69281000-69283000	Flanking Active TSS	Fetal Lung	lung
35	chr14:69281000-69283000	Flanking Active TSS	Fetal Thymus	thymus
36	chr14:69281000-69283000	Enhancers	Gastric	stomach
37	chr14:69281000-69283000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr14:69281000-69283000	Flanking Active TSS	HSMM	muscle
39	chr14:69281000-69283200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:69281000-69283400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:69281000-69283400	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr14:69281000-69283800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:69281000-69283800	Enhancers	Fetal Brain Male	brain
44	chr14:69281000-69283800	Flanking Active TSS	HSMMtube	muscle
45	chr14:69281000-69284000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:69281000-69284000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:69281200-69283000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:69281200-69283000	Flanking Active TSS	Fetal Heart	heart
49	chr14:69281200-69283000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr14:69281200-69283000	Flanking Active TSS	A549	lung

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