Variant report

Variant	rs194747
Chromosome Location	chr14:69281878-69281879
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 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	chr14:68671642..68674353-chr14:69280864..69282712,2	MCF-7	breast:
4	chr14:69086694..69088266-chr14:69281564..69284434,2	K562	blood:
5	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
6	chr14:68409426..68412262-chr14:69280020..69282868,2	MCF-7	breast:
7	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
8	chr14:69281688..69284260-chr20:48598525..48601262,2	MCF-7	breast:
9	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
10	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
11	chr14:69281086..69282985-chr14:69289138..69291882,2	K562	blood:
12	chr14:68609991..68612093-chr14:69279827..69282795,2	MCF-7	breast:
13	chr14:69281619..69283522-chr14:69291713..69294736,3	MCF-7	breast:
14	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
15	chr14:69276296..69278428-chr14:69281559..69284109,2	K562	blood:
16	chr14:69125254..69128271-chr14:69281181..69284141,4	MCF-7	breast:
17	chr14:68400277..68402859-chr14:69281865..69283593,2	MCF-7	breast:
18	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
19	chr14:68676342..68679181-chr14:69280243..69283048,2	MCF-7	breast:
20	chr14:69169762..69171613-chr14:69281684..69283717,2	MCF-7	breast:
21	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
22	chr14:69183344..69185118-chr14:69281326..69283453,2	K562	blood:
23	chr14:68710192..68712093-chr14:69280950..69283017,2	MCF-7	breast:
24	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
25	chr14:68429695..68431817-chr14:69281066..69283231,2	MCF-7	breast:
26	chr14:68834296..68836299-chr14:69281257..69283573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000124216	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

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	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11625403	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11626883	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs168961	1.00[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]
rs194746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236262	0.89[CEU][hapmap];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	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899264	0.86[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	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902654	0.85[EUR][1000 genomes]
rs7142145	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7142589	0.84[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs194747	ZFP36L1	cis	lesional skin	skin_eQTL
rs194747	ZFP36L1	cis	normal skin	skin_eQTL
rs194747	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL
rs194747	ZFP36L1	cis	uninvolved skin	skin_eQTL

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	chr14:69279200-69282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:69279200-69283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:69279800-69282800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69279800-69282800	Enhancers	Spleen	Spleen
6	chr14:69279800-69283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:69279800-69283000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr14:69279800-69284000	Enhancers	Placenta	Placenta
9	chr14:69280000-69282000	Enhancers	Stomach Mucosa	stomach
10	chr14:69280000-69282200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:69280000-69282200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:69280000-69282600	Enhancers	Esophagus	oesophagus
13	chr14:69280000-69282800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:69280000-69282800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:69280000-69282800	Enhancers	Left Ventricle	heart
16	chr14:69280000-69282800	Enhancers	Psoas Muscle	Psoas
17	chr14:69280000-69283000	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr14:69280000-69283000	Enhancers	Lung	lung
19	chr14:69280000-69283000	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:69280000-69283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:69280200-69282600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:69280200-69282600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr14:69280200-69282600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:69280200-69283000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:69280200-69284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr14:69280400-69282800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:69280400-69282800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:69280400-69283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:69280600-69282400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:69280600-69283000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr14:69280600-69283000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:69280600-69283000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:69280600-69283000	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr14:69280600-69283200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr14:69280600-69283200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr14:69280800-69283000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:69280800-69283000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr14:69280800-69283000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:69280800-69283000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:69280800-69283000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:69280800-69283000	Enhancers	Right Ventricle	heart
42	chr14:69280800-69283000	Flanking Active TSS	Hela-S3	cervix
43	chr14:69280800-69283200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr14:69280800-69283400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:69280800-69283600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:69280800-69283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:69280800-69283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:69281000-69282200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:69281000-69282200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr14:69281000-69282200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links