Variant report

Variant	rs754435
Chromosome Location	chr14:65214652-65214653
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr14:64968824..64971792-chr14:65213075..65215699,2	MCF-7	breast:
9	chr14:65206432..65210320-chr14:65210807..65215364,7	MCF-7	breast:
10	chr14:65205058..65207899-chr14:65213819..65216284,2	MCF-7	breast:

No data

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

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17179970	0.95[ASN][1000 genomes]
rs17179984	0.95[ASN][1000 genomes]
rs17180090	0.91[ASN][1000 genomes]
rs17767188	0.91[ASN][1000 genomes]
rs17767206	0.91[ASN][1000 genomes]
rs1985465	0.83[ASN][1000 genomes]
rs1985466	0.87[ASN][1000 genomes]
rs1998120	0.91[ASN][1000 genomes]
rs229603	0.83[ASN][1000 genomes]
rs229620	0.87[ASN][1000 genomes]
rs229624	0.95[ASN][1000 genomes]
rs229625	0.87[ASN][1000 genomes]
rs229626	0.87[ASN][1000 genomes]
rs229644	0.87[ASN][1000 genomes]
rs229646	0.80[ASN][1000 genomes]
rs229650	0.87[ASN][1000 genomes]
rs229651	0.87[ASN][1000 genomes]
rs229655	0.87[ASN][1000 genomes]
rs229659	0.83[ASN][1000 genomes]
rs229660	0.83[ASN][1000 genomes]
rs229662	1.00[ASN][1000 genomes]
rs229663	1.00[ASN][1000 genomes]
rs229664	1.00[ASN][1000 genomes]
rs41301473	1.00[ASN][1000 genomes]
rs41307086	0.95[ASN][1000 genomes]
rs58789159	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73273513	0.87[ASN][1000 genomes]
rs73273517	0.91[ASN][1000 genomes]
rs73273524	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73273534	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73273536	1.00[ASN][1000 genomes]
rs73273546	0.91[ASN][1000 genomes]
rs73273549	1.00[ASN][1000 genomes]
rs872296	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	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:65202800-65215200	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr14:65203600-65215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:65204000-65215200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:65204000-65217200	Strong transcription	NHEK	skin
10	chr14:65204200-65216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:65204200-65217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:65204400-65217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:65204600-65215400	Strong transcription	Liver	Liver
14	chr14:65204600-65216800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
16	chr14:65205400-65216800	Strong transcription	Esophagus	oesophagus
17	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
19	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
20	chr14:65210000-65215400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65210600-65215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:65211200-65216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:65211200-65217400	Strong transcription	Fetal Intestine Large	intestine
24	chr14:65211200-65219000	Weak transcription	Small Intestine	intestine
25	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:65211800-65214800	Genic enhancers	Brain Cingulate Gyrus	brain
27	chr14:65211800-65215000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:65211800-65215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:65212200-65215400	Strong transcription	Colonic Mucosa	Colon
31	chr14:65212400-65216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:65212400-65217400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:65212600-65214800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr14:65212600-65215400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:65212600-65217000	Strong transcription	A549	lung
36	chr14:65212800-65218800	Weak transcription	Brain Germinal Matrix	brain
37	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
38	chr14:65213000-65215000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:65213000-65215400	Strong transcription	Gastric	stomach
40	chr14:65213000-65217000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr14:65213200-65217400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:65213400-65215200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:65213400-65215400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:65213400-65217600	Strong transcription	Fetal Stomach	stomach
45	chr14:65213400-65218200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:65213600-65216200	Strong transcription	Fetal Brain Female	brain
47	chr14:65213600-65216600	Strong transcription	Pancreas	Pancrea
48	chr14:65213600-65217000	Strong transcription	Placenta	Placenta
49	chr14:65213600-65218200	Weak transcription	Lung	lung
50	chr14:65213600-65219600	Strong transcription	HMEC	breast

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