Variant report

Variant	rs59115111
Chromosome Location	chr14:65186640-65186641
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:65186458-65187629	A549	lung:	n/a	n/a
2	FOSL1	chr14:65186563-65187523	HCT-116	colon:	n/a	n/a
3	FOSL2	chr14:65186519-65187555	A549	lung:	n/a	n/a
4	GATA3	chr14:65186563-65187631	A549	lung:	n/a	n/a
5	RCOR1	chr14:65186430-65187943	IMR90	lung:	n/a	n/a
6	KAP1	chr14:65186596-65187529	U2OS	brain:	n/a	n/a
7	SP1	chr14:65186633-65187452	A549	lung:	n/a	chr14:65186894-65186901
8	MAX	chr14:65186578-65187436	A549	lung:	n/a	n/a
9	EP300	chr14:65186615-65187373	A549	lung:	n/a	chr14:65187146-65187156
10	TCF12	chr14:65186360-65187895	A549	lung:	n/a	n/a
11	POLR2A	chr14:65186612-65187406	HCT-116	colon:	n/a	n/a
12	SP1	chr14:65186593-65187582	A549	lung:	n/a	chr14:65186894-65186901
13	SP1	chr14:65186551-65187635	HCT-116	colon:	n/a	chr14:65186894-65186901
14	ELK1	chr14:65186572-65186716	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
2	chr14:65005659..65008435-chr14:65184165..65188343,3	MCF-7	breast:
3	chr14:64969647..64971800-chr14:65185515..65189340,6	MCF-7	breast:
4	chr14:65182677..65185308-chr14:65185864..65187831,2	K562	blood:
5	chr14:65180689..65184177-chr14:65185537..65188147,4	K562	blood:
6	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
7	chr14:65148900..65150464-chr14:65186037..65188877,2	MCF-7	breast:
8	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10138311	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102000	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102003	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102005	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102007	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41456047	1.00[ASN][1000 genomes]
rs4453374	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271697	1.00[ASN][1000 genomes]
rs74056388	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74056389	1.00[ASN][1000 genomes]
rs74056391	1.00[ASN][1000 genomes]
rs74056394	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74056396	0.89[AFR][1000 genomes];1.00[ASN][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:65181200-65189600	Enhancers	Liver	Liver
5	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:65181600-65189400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:65181800-65188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
10	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:65182000-65190800	Enhancers	Stomach Mucosa	stomach
12	chr14:65182200-65191600	Enhancers	Spleen	Spleen
13	chr14:65182600-65187200	Enhancers	Left Ventricle	heart
14	chr14:65182800-65187600	Enhancers	NH-A	brain
15	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
16	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
17	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
18	chr14:65183200-65186800	Enhancers	Placenta	Placenta
19	chr14:65183400-65187800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:65183400-65188400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:65183400-65190000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:65183600-65186800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:65183600-65188000	Enhancers	Aorta	Aorta
25	chr14:65183600-65188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:65183600-65188800	Enhancers	Fetal Lung	lung
27	chr14:65183600-65189600	Enhancers	Ovary	ovary
28	chr14:65183600-65190000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:65183600-65190000	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:65183800-65187800	Enhancers	Colonic Mucosa	Colon
32	chr14:65183800-65191800	Weak transcription	Brain Germinal Matrix	brain
33	chr14:65183800-65193400	Enhancers	Right Atrium	heart
34	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
35	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
36	chr14:65184200-65188400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr14:65184200-65188400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr14:65184200-65189200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:65184200-65189600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:65184200-65189600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:65184200-65193800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:65184400-65186800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:65184400-65189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:65184400-65189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:65184600-65187200	Enhancers	Colon Smooth Muscle	Colon
46	chr14:65184600-65188400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:65184600-65188800	Genic enhancers	NHEK	skin
48	chr14:65184600-65189400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:65184600-65189400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:65184600-65193200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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