Variant report

Variant	rs2020996
Chromosome Location	chr14:77651351-77651352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77606589..77609950-chr14:77648751..77652223,3	MCF-7	breast:
2	chr14:77646578..77649523-chr14:77650079..77652080,2	MCF-7	breast:
3	chr14:77635396..77638005-chr14:77648912..77652690,3	MCF-7	breast:
4	chr14:77649385..77652123-chr14:77652331..77653941,2	K562	blood:
5	chr14:77648085..77652144-chr14:77770230..77773335,4	MCF-7	breast:
6	chr14:77651269..77652877-chr14:77857403..77859042,2	MCF-7	breast:
7	chr14:77648815..77651444-chr14:77730169..77732622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221754	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10134823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs34994984	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148579	1.00[JPT][hapmap]
rs888068	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77648600-77653000	Weak transcription	Fetal Heart	heart
2	chr14:77648800-77653200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:77648800-77654800	Weak transcription	Right Atrium	heart
4	chr14:77649000-77652000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:77649000-77653000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr14:77649000-77653200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:77649000-77653200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:77649000-77655000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:77649200-77651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:77649200-77652200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:77649200-77652400	Enhancers	Fetal Intestine Small	intestine
12	chr14:77649200-77653200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:77649200-77653400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:77649200-77654600	Enhancers	Fetal Intestine Large	intestine
15	chr14:77649400-77652400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:77649400-77653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:77649800-77653400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:77650000-77652000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr14:77650400-77651400	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:77650400-77651600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr14:77650400-77651800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:77650400-77652000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:77650400-77652200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:77650400-77654200	Enhancers	Esophagus	oesophagus
25	chr14:77650600-77651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:77650600-77651600	Enhancers	GM12878-XiMat	blood
27	chr14:77650600-77651800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:77650600-77652000	Enhancers	Brain Angular Gyrus	brain
29	chr14:77650600-77652200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:77650600-77653000	Weak transcription	Fetal Brain Male	brain
31	chr14:77650600-77654000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:77650800-77651800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:77650800-77652000	Enhancers	Primary B cells from peripheral blood	blood
34	chr14:77650800-77652000	Enhancers	Fetal Muscle Leg	muscle
35	chr14:77650800-77652000	Enhancers	NHEK	skin
36	chr14:77650800-77652200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:77650800-77652200	Enhancers	HMEC	breast
38	chr14:77651000-77651400	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr14:77651000-77651600	Enhancers	Fetal Thymus	thymus
40	chr14:77651000-77651800	Enhancers	Spleen	Spleen
41	chr14:77651000-77652000	Enhancers	Placenta	Placenta
42	chr14:77651000-77652000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:77651000-77652200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr14:77651200-77651400	Flanking Active TSS	Colonic Mucosa	Colon
45	chr14:77651200-77651400	Bivalent Enhancer	Fetal Stomach	stomach
46	chr14:77651200-77651600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:77651200-77651600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:77651200-77651600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:77651200-77651600	Weak transcription	Pancreas	Pancrea
50	chr14:77651200-77651600	Enhancers	HepG2	liver

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