Variant report

Variant	rs60861214
Chromosome Location	chr14:69390763-69390764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69390466-69390841	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:
2	chr14:69390106..69392207-chr14:69470641..69472372,2	MCF-7	breast:
3	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
4	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
5	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:
6	chr14:69390024..69391757-chr14:69399929..69402597,2	MCF-7	breast:
7	chr14:69382956..69385159-chr14:69389379..69391061,2	MCF-7	breast:
8	chr14:69327935..69330072-chr14:69390363..69392923,3	MCF-7	breast:
9	chr14:69354536..69356505-chr14:69389279..69391673,2	K562	blood:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000258967	Chromatin interaction
ENSG00000259062	Chromatin interaction
ENSG00000270975	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17106608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34218475	1.00[AFR][1000 genomes]
rs4899271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902670	0.91[AFR][1000 genomes]
rs4902675	1.00[AMR][1000 genomes]
rs59993756	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
4	chr14:69354000-69393200	Strong transcription	NHEK	skin
5	chr14:69354600-69393000	Strong transcription	Dnd41	blood
6	chr14:69362600-69393400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69369000-69391200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:69376600-69392400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:69378800-69394000	Weak transcription	Stomach Mucosa	stomach
12	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:69380200-69392600	Strong transcription	HUVEC	blood vessel
14	chr14:69382000-69391000	Strong transcription	NHDF-Ad	bronchial
15	chr14:69382000-69394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:69383600-69391000	Weak transcription	Thymus	Thymus
17	chr14:69385200-69393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:69385400-69391400	Strong transcription	Hela-S3	cervix
19	chr14:69385600-69391400	Enhancers	Fetal Thymus	thymus
20	chr14:69385600-69391600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:69386000-69392400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:69387000-69395000	Weak transcription	Fetal Kidney	kidney
24	chr14:69387000-69402600	Weak transcription	K562	blood
25	chr14:69387400-69391800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:69387600-69392000	Enhancers	Fetal Heart	heart
28	chr14:69387600-69392000	Genic enhancers	Fetal Stomach	stomach
29	chr14:69387800-69394600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:69388000-69391200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:69388000-69391600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:69388000-69392000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:69388000-69392200	Weak transcription	Colonic Mucosa	Colon
35	chr14:69388000-69392800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:69388000-69392800	Weak transcription	Fetal Brain Female	brain
37	chr14:69388000-69393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:69388200-69391600	Weak transcription	Esophagus	oesophagus
39	chr14:69388200-69392000	Enhancers	Adipose Nuclei	Adipose
40	chr14:69388200-69393000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:69388400-69390800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:69388400-69391400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:69388400-69391600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:69388400-69392000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:69388400-69392000	Genic enhancers	NH-A	brain
46	chr14:69388400-69392600	Genic enhancers	HepG2	liver
47	chr14:69388400-69393200	Genic enhancers	HMEC	breast
48	chr14:69388600-69391200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:69388600-69392000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:69388600-69392400	Genic enhancers	Primary T cells fromperipheralblood	blood

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