Variant report

Variant	rs2093101
Chromosome Location	chr14:69130091-69130092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69128890..69132387-chr14:69257388..69259950,3	K562	blood:
2	chr14:69113345..69115393-chr14:69129632..69132510,2	K562	blood:
3	chr14:69128588..69133050-chr14:69253079..69257196,5	MCF-7	breast:
4	chr14:69128066..69130361-chr14:69254081..69256689,3	MCF-7	breast:
5	chr14:69130068..69132761-chr14:69260724..69262933,2	MCF-7	breast:
6	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:
7	chr14:68617419..68619958-chr14:69128377..69130233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17835140	0.92[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2145150	0.85[ASN][1000 genomes]
rs2877497	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2877498	0.92[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs7350738	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798800	chr14:69114353-69131030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2093101	C14orf181	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
2	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69122000-69136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:69122200-69131200	Weak transcription	Small Intestine	intestine
5	chr14:69122800-69133600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:69122800-69133800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:69123000-69130600	Weak transcription	Liver	Liver
8	chr14:69123000-69137800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:69123200-69131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:69123800-69130400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:69124600-69130200	Enhancers	Placenta	Placenta
12	chr14:69124800-69131800	Enhancers	Spleen	Spleen
13	chr14:69126600-69130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:69126600-69130200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:69126600-69131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:69126600-69131200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:69126600-69131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:69126600-69133000	Weak transcription	Gastric	stomach
19	chr14:69126600-69135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:69126600-69136000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:69126800-69131000	Weak transcription	Fetal Kidney	kidney
22	chr14:69126800-69131200	Weak transcription	Esophagus	oesophagus
23	chr14:69126800-69131200	Weak transcription	Right Atrium	heart
24	chr14:69126800-69131800	Weak transcription	Fetal Intestine Large	intestine
25	chr14:69127000-69131200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:69127000-69132400	Weak transcription	Fetal Thymus	thymus
27	chr14:69127400-69133600	Weak transcription	Pancreas	Pancrea
28	chr14:69127800-69131200	Weak transcription	Left Ventricle	heart
29	chr14:69128000-69134400	Enhancers	Fetal Heart	heart
30	chr14:69128200-69130200	Weak transcription	Ovary	ovary
31	chr14:69128200-69131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:69128400-69135200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:69128400-69137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:69128600-69136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:69128800-69135000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:69129000-69130400	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:69129000-69131000	Weak transcription	Fetal Lung	lung
38	chr14:69129000-69131200	Weak transcription	Right Ventricle	heart
39	chr14:69129000-69131800	Weak transcription	Aorta	Aorta
40	chr14:69129000-69140200	Enhancers	NHDF-Ad	bronchial
41	chr14:69129200-69132800	Enhancers	Brain Cingulate Gyrus	brain
42	chr14:69129200-69133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:69129200-69137600	Enhancers	NHLF	lung
44	chr14:69129200-69140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:69129400-69130200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:69129400-69131200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:69129400-69131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:69129400-69132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:69129600-69130200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:69129600-69130200	Enhancers	Primary T helper cells fromperipheralblood	blood

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