Variant report

Variant	rs41307086
Chromosome Location	chr14:65212845-65212846
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
2	chr14:65211034..65213398-chr14:65224947..65227987,3	MCF-7	breast:
3	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
4	chr14:65202287..65204221-chr14:65212504..65215467,2	MCF-7	breast:
5	chr14:65206564..65209112-chr14:65212636..65215493,2	K562	blood:
6	chr14:65212044..65214816-chr14:65217541..65219717,2	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:

No data

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17179970	0.91[ASN][1000 genomes]
rs17179984	0.91[ASN][1000 genomes]
rs17180090	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17767188	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17767206	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1985465	0.85[EUR][1000 genomes]
rs1985466	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998120	0.87[ASN][1000 genomes]
rs229620	0.83[ASN][1000 genomes]
rs229624	0.91[ASN][1000 genomes]
rs229625	0.83[ASN][1000 genomes]
rs229626	0.83[ASN][1000 genomes]
rs229644	0.83[ASN][1000 genomes]
rs229650	0.83[ASN][1000 genomes]
rs229651	0.83[ASN][1000 genomes]
rs229655	0.83[ASN][1000 genomes]
rs229662	0.95[ASN][1000 genomes]
rs229663	0.95[ASN][1000 genomes]
rs229664	0.95[ASN][1000 genomes]
rs41301473	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58789159	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73273513	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73273517	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273524	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73273534	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73273536	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73273546	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273549	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754435	0.95[ASN][1000 genomes]
rs872296	0.95[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	chr14:65193800-65214400	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	chr14:65202800-65213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:65202800-65215200	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr14:65203000-65214400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:65203600-65215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:65203800-65214400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr14:65204000-65213000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr14:65204000-65215200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:65204000-65217200	Strong transcription	NHEK	skin
15	chr14:65204200-65216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:65204200-65217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:65204400-65217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:65204600-65214400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr14:65204600-65215400	Strong transcription	Liver	Liver
20	chr14:65204600-65216800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
22	chr14:65205400-65216800	Strong transcription	Esophagus	oesophagus
23	chr14:65207400-65213000	Weak transcription	HepG2	liver
24	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
26	chr14:65209600-65213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:65209600-65214600	Weak transcription	Hela-S3	cervix
28	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
29	chr14:65210000-65215400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:65210600-65215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:65211000-65213600	Weak transcription	Fetal Brain Female	brain
32	chr14:65211200-65213000	Weak transcription	Gastric	stomach
33	chr14:65211200-65214400	Genic enhancers	Brain Substantia Nigra	brain
34	chr14:65211200-65216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:65211200-65217400	Strong transcription	Fetal Intestine Large	intestine
36	chr14:65211200-65219000	Weak transcription	Small Intestine	intestine
37	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:65211400-65214000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:65211600-65214000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65211800-65213000	Enhancers	Primary T cells from cord blood	blood
41	chr14:65211800-65213000	Genic enhancers	Placenta Amnion	Placenta Amnion
42	chr14:65211800-65213800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:65211800-65214200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:65211800-65214200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:65211800-65214800	Genic enhancers	Brain Cingulate Gyrus	brain
46	chr14:65211800-65215000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:65211800-65215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:65212000-65213400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:65212000-65213600	Genic enhancers	Placenta	Placenta
50	chr14:65212000-65213600	Enhancers	NH-A	brain

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