Variant report

Variant	rs4899261
Chromosome Location	chr14:69283375-69283376
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 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	chr14:68400531..68401318-chr14:69283155..69283956,3	MCF-7	breast:
5	chr14:69081849..69083731-chr14:69281900..69284171,2	MCF-7	breast:
6	chr14:69255698..69256285-chr14:69283120..69283681,2	K562	blood:
7	chr14:68942896..68944476-chr14:69282297..69284211,2	MCF-7	breast:
8	chr11:65623915..65626404-chr14:69283318..69285149,2	MCF-7	breast:
9	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:
10	chr14:69282210..69284436-chr14:69319969..69321576,2	MCF-7	breast:
11	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
12	chr14:68726780..68728843-chr14:69282092..69284748,2	MCF-7	breast:
13	chr14:69086694..69088266-chr14:69281564..69284434,2	K562	blood:
14	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
15	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
16	chr14:69281688..69284260-chr20:48598525..48601262,2	MCF-7	breast:
17	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
18	chr14:68842793..68845023-chr14:69283063..69285593,2	K562	blood:
19	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
20	chr14:68657723..68660507-chr14:69282289..69285612,3	MCF-7	breast:
21	chr14:69281619..69283522-chr14:69291713..69294736,3	MCF-7	breast:
22	chr14:68722155..68724200-chr14:69282010..69284699,2	MCF-7	breast:
23	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
24	chr14:68713914..68715966-chr14:69283266..69284939,2	MCF-7	breast:
25	chr14:68607701..68609708-chr14:69282854..69284739,2	MCF-7	breast:
26	chr14:69276296..69278428-chr14:69281559..69284109,2	K562	blood:
27	chr14:69125254..69128271-chr14:69281181..69284141,4	MCF-7	breast:
28	chr14:68400277..68402859-chr14:69281865..69283593,2	MCF-7	breast:
29	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
30	chr14:68715291..68716197-chr14:69283107..69283663,2	K562	blood:
31	chr14:69135931..69137955-chr14:69281903..69283827,2	MCF-7	breast:
32	chr14:68716541..68718661-chr14:69283257..69284761,2	MCF-7	breast:
33	chr14:68350372..68351119-chr14:69283109..69283933,2	MCF-7	breast:
34	chr14:69261996..69263308-chr14:69283080..69283923,4	MCF-7	breast:
35	chr14:69283010..69284742-chr9:5377237..5379352,2	MCF-7	breast:
36	chr14:69169762..69171613-chr14:69281684..69283717,2	MCF-7	breast:
37	chr14:68354841..68356509-chr14:69282085..69284702,3	MCF-7	breast:
38	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
39	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
40	chr14:68925315..68927272-chr14:69282656..69284660,2	MCF-7	breast:
41	chr14:69262467..69263379-chr14:69282705..69283477,3	MCF-7	breast:
42	chr14:69183344..69185118-chr14:69281326..69283453,2	K562	blood:
43	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
44	chr14:68834296..68836299-chr14:69281257..69283573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000124216	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10139199	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899260	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899262	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902652	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7149650	0.88[AFR][1000 genomes]
rs73279198	0.88[AFR][1000 genomes]
rs8019383	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9671648	0.82[AFR][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: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	chr14:69279800-69284000	Enhancers	Placenta	Placenta
3	chr14:69280000-69283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:69280200-69284400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:69280800-69283400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:69280800-69283600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:69280800-69283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:69280800-69283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:69281000-69283400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:69281000-69283400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr14:69281000-69283800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr14:69281000-69283800	Enhancers	Fetal Brain Male	brain
13	chr14:69281000-69283800	Flanking Active TSS	HSMMtube	muscle
14	chr14:69281000-69284000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:69281000-69284000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:69281200-69283800	Flanking Active TSS	Dnd41	blood
17	chr14:69281600-69283400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr14:69281800-69283600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr14:69281800-69284000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:69282200-69283600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:69282400-69283400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:69282600-69283600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:69282600-69283600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:69282600-69283600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:69282600-69283600	Active TSS	Primary T cells from cord blood	blood
26	chr14:69282600-69283600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
27	chr14:69282600-69283600	Flanking Active TSS	HMEC	breast
28	chr14:69282600-69283800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:69282600-69283800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:69282600-69283800	Active TSS	Thymus	Thymus
31	chr14:69282800-69283600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr14:69282800-69283600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:69282800-69283600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:69282800-69283600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr14:69282800-69283600	Active TSS	Psoas Muscle	Psoas
36	chr14:69282800-69283600	Active TSS	Small Intestine	intestine
37	chr14:69282800-69283800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:69282800-69283800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:69282800-69284400	Enhancers	Stomach Mucosa	stomach
40	chr14:69282800-69286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:69282800-69286600	Weak transcription	Fetal Kidney	kidney
42	chr14:69283000-69283400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr14:69283000-69283400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr14:69283000-69283400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:69283000-69283400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:69283000-69283400	Active TSS	Gastric	stomach
47	chr14:69283000-69283400	Active TSS	Lung	lung
48	chr14:69283000-69283400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr14:69283000-69283400	Flanking Active TSS	HUVEC	blood vessel
50	chr14:69283000-69283600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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