Variant report

Variant	rs229648
Chromosome Location	chr14:65212395-65212396
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65197276..65199503-chr14:65210432..65212746,2	MCF-7	breast:
2	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
3	chr14:65211034..65213398-chr14:65224947..65227987,3	MCF-7	breast:
4	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
5	chr14:65212044..65214816-chr14:65217541..65219717,2	MCF-7	breast:
6	chr14:65170123..65171910-chr14:65210680..65212434,2	MCF-7	breast:
7	chr14:65181414..65183805-chr14:65210426..65213903,3	MCF-7	breast:
8	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
9	chr14:65210793..65213211-chr14:65239512..65241809,2	MCF-7	breast:
10	chr14:65137974..65138524-chr14:65212266..65213004,2	MCF-7	breast:
11	chr14:65206432..65210320-chr14:65210807..65215364,7	MCF-7	breast:
12	chr14:65203723..65205643-chr14:65211160..65213335,2	K562	blood:
13	chr14:65205157..65207036-chr14:65211800..65213605,2	MCF-7	breast:
14	chr14:65138592..65140467-chr14:65210995..65212825,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11621159	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11625500	1.00[ASN][1000 genomes]
rs11628301	1.00[ASN][1000 genomes]
rs12883289	1.00[ASN][1000 genomes]
rs12892852	1.00[ASN][1000 genomes]
rs12895353	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs1553163	1.00[MEX][hapmap]
rs170683	1.00[ASN][1000 genomes]
rs170685	1.00[ASN][1000 genomes]
rs17767074	1.00[MEX][hapmap]
rs229622	1.00[ASN][1000 genomes]
rs229649	1.00[ASN][1000 genomes]
rs229653	1.00[ASN][1000 genomes]
rs229656	1.00[ASN][1000 genomes]
rs34340219	1.00[ASN][1000 genomes]
rs7140781	1.00[ASN][1000 genomes]
rs71420472	1.00[ASN][1000 genomes]
rs732311	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs8003047	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9943995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
3	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
4	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:65201400-65212600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:65202800-65213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:65202800-65215200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr14:65203000-65214400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65203600-65212400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr14:65203600-65215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:65203800-65212400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:65203800-65212600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:65203800-65214400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr14:65204000-65212800	Strong transcription	Fetal Stomach	stomach
20	chr14:65204000-65213000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:65204000-65215200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:65204000-65217200	Strong transcription	NHEK	skin
23	chr14:65204200-65212400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:65204200-65212600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:65204200-65216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:65204200-65217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:65204400-65212400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:65204400-65217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:65204600-65212400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65204600-65214400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr14:65204600-65215400	Strong transcription	Liver	Liver
32	chr14:65204600-65216800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
34	chr14:65205200-65212400	Weak transcription	HSMM	muscle
35	chr14:65205200-65212800	Strong transcription	Pancreas	Pancrea
36	chr14:65205400-65212800	Strong transcription	Brain Germinal Matrix	brain
37	chr14:65205400-65216800	Strong transcription	Esophagus	oesophagus
38	chr14:65207400-65213000	Weak transcription	HepG2	liver
39	chr14:65207800-65212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
42	chr14:65209600-65213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:65209600-65214600	Weak transcription	Hela-S3	cervix
44	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
45	chr14:65210000-65212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:65210000-65215400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:65210600-65215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:65210800-65212400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:65211000-65212600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:65211000-65213600	Weak transcription	Fetal Brain Female	brain

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