Variant report

Variant	rs755972
Chromosome Location	chr14:65214230-65214231
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65005249..65007556-chr14:65213023..65214857,2	MCF-7	breast:
2	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
3	chr14:65202287..65204221-chr14:65212504..65215467,2	MCF-7	breast:
4	chr14:65206564..65209112-chr14:65212636..65215493,2	K562	blood:
5	chr14:65212044..65214816-chr14:65217541..65219717,2	MCF-7	breast:
6	chr14:65173952..65176818-chr14:65213044..65215895,2	MCF-7	breast:
7	chr14:65163822..65165712-chr14:65213676..65215408,2	MCF-7	breast:
8	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
9	chr14:64968824..64971792-chr14:65213075..65215699,2	MCF-7	breast:
10	chr14:65206432..65210320-chr14:65210807..65215364,7	MCF-7	breast:
11	chr14:65205058..65207899-chr14:65213819..65216284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17102016	1.00[ASN][1000 genomes]
rs17102018	1.00[ASN][1000 genomes]
rs17102019	1.00[ASN][1000 genomes]
rs17102020	1.00[ASN][1000 genomes]
rs28685073	1.00[ASN][1000 genomes]
rs57913362	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65202800-65215200	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr14:65203000-65214400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:65203600-65215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:65203800-65214400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr14:65204000-65215200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:65204000-65217200	Strong transcription	NHEK	skin
13	chr14:65204200-65216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:65204200-65217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:65204400-65217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:65204600-65214400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr14:65204600-65215400	Strong transcription	Liver	Liver
18	chr14:65204600-65216800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
20	chr14:65205400-65216800	Strong transcription	Esophagus	oesophagus
21	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
23	chr14:65209600-65214600	Weak transcription	Hela-S3	cervix
24	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
25	chr14:65210000-65215400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:65210600-65215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:65211200-65214400	Genic enhancers	Brain Substantia Nigra	brain
28	chr14:65211200-65216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:65211200-65217400	Strong transcription	Fetal Intestine Large	intestine
30	chr14:65211200-65219000	Weak transcription	Small Intestine	intestine
31	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:65211800-65214800	Genic enhancers	Brain Cingulate Gyrus	brain
33	chr14:65211800-65215000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:65211800-65215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:65212000-65214600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:65212200-65214400	Enhancers	Brain Angular Gyrus	brain
38	chr14:65212200-65215400	Strong transcription	Colonic Mucosa	Colon
39	chr14:65212400-65214400	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:65212400-65216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:65212400-65217400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:65212600-65214800	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr14:65212600-65215400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:65212600-65217000	Strong transcription	A549	lung
45	chr14:65212800-65218800	Weak transcription	Brain Germinal Matrix	brain
46	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
47	chr14:65213000-65215000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:65213000-65215400	Strong transcription	Gastric	stomach
49	chr14:65213000-65217000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr14:65213200-65214400	Genic enhancers	Fetal Kidney	kidney

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