Variant report

Variant	rs73279175
Chromosome Location	chr14:69274810-69274811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68405658..68408648-chr14:69273942..69276628,2	MCF-7	breast:
2	chr14:69273277..69275385-chr14:69276944..69279019,2	K562	blood:
3	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11846601	0.94[AFR][1000 genomes]
rs57487210	1.00[EUR][1000 genomes]
rs57544284	1.00[EUR][1000 genomes]
rs61025486	0.80[AFR][1000 genomes]
rs7141082	1.00[EUR][1000 genomes]
rs73281012	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060189	1.00[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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
4	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
6	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69272200-69275200	Enhancers	Small Intestine	intestine
9	chr14:69272200-69275400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:69272200-69275800	Enhancers	Stomach Mucosa	stomach
11	chr14:69272200-69277000	Enhancers	Placenta	Placenta
12	chr14:69272400-69275000	Enhancers	Fetal Intestine Small	intestine
13	chr14:69272400-69276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
15	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:69272800-69275400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:69272800-69276800	Enhancers	Primary B cells from cord blood	blood
18	chr14:69272800-69277200	Enhancers	Fetal Intestine Large	intestine
19	chr14:69272800-69277200	Enhancers	Pancreas	Pancrea
20	chr14:69273000-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:69273000-69275200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:69273000-69276600	Enhancers	Ovary	ovary
23	chr14:69273200-69275000	Enhancers	Left Ventricle	heart
24	chr14:69273200-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:69273200-69275400	Enhancers	Liver	Liver
26	chr14:69273200-69275600	Enhancers	Colonic Mucosa	Colon
27	chr14:69273200-69275800	Enhancers	Esophagus	oesophagus
28	chr14:69273200-69275800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:69273200-69276400	Enhancers	Adipose Nuclei	Adipose
30	chr14:69273200-69276400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:69273200-69276600	Enhancers	Spleen	Spleen
32	chr14:69273200-69276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:69273200-69277200	Enhancers	Lung	lung
34	chr14:69273400-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:69273400-69275800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr14:69273800-69275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:69274000-69275400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:69274000-69277000	Enhancers	Rectal Smooth Muscle	rectum
39	chr14:69274000-69278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:69274000-69278400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:69274000-69278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:69274000-69281000	Weak transcription	Aorta	Aorta
43	chr14:69274000-69281000	Weak transcription	Fetal Brain Male	brain
44	chr14:69274200-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:69274200-69275000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:69274200-69275800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:69274200-69276400	Weak transcription	Right Ventricle	heart
48	chr14:69274200-69278800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:69274200-69279000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:69274200-69279200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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