Variant report

Variant	rs60806120
Chromosome Location	chr14:67837511-67837512
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:67836281..67838188-chr14:67843116..67845850,2	MCF-7	breast:
2	chr14:67836330..67839747-chr14:67839850..67842093,3	MCF-7	breast:
3	chr14:67826492..67828936-chr14:67836980..67838913,2	K562	blood:
4	chr14:67831655..67833160-chr14:67836310..67837942,2	K562	blood:
5	chr14:67833401..67836470-chr14:67837034..67842117,5	K562	blood:
6	chr14:67831647..67837851-chr14:67838094..67843638,9	K562	blood:
7	chr14:67830118..67835018-chr14:67835890..67840429,6	MCF-7	breast:
8	chr14:67835138..67837687-chr14:67853889..67855773,2	K562	blood:
9	chr14:67830026..67833675-chr14:67835617..67839750,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10151760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047350	0.94[EUR][1000 genomes]
rs17184217	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28799597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67828200-67841600	Weak transcription	Aorta	Aorta
2	chr14:67828400-67837800	Weak transcription	Right Ventricle	heart
3	chr14:67828400-67854000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:67828600-67838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:67828600-67854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:67828800-67854000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:67829000-67855200	Strong transcription	Fetal Thymus	thymus
8	chr14:67829200-67852000	Strong transcription	Placenta	Placenta
9	chr14:67829200-67853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:67829200-67853600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:67829400-67838200	Weak transcription	Stomach Mucosa	stomach
12	chr14:67829400-67841200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:67829400-67853600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:67829400-67854000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:67829400-67854200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67829400-67854200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:67829600-67854800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:67829800-67838600	Strong transcription	Brain Hippocampus Middle	brain
19	chr14:67829800-67839400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr14:67829800-67843200	Weak transcription	Fetal Heart	heart
21	chr14:67829800-67854000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:67829800-67854400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:67830000-67854000	Strong transcription	HSMM	muscle
24	chr14:67830200-67851800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:67830400-67838200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:67830400-67854000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:67830400-67855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:67830400-67855000	Strong transcription	Liver	Liver
29	chr14:67830600-67838400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr14:67830800-67853000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:67831000-67837600	Strong transcription	A549	lung
32	chr14:67831000-67854000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:67831000-67855200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:67831200-67854600	Strong transcription	Primary T cells from cord blood	blood
35	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:67831400-67837800	Strong transcription	NHLF	lung
37	chr14:67831400-67845400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr14:67831400-67853000	Strong transcription	Adipose Nuclei	Adipose
39	chr14:67831400-67854200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:67831400-67854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:67831600-67838200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:67831600-67846000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:67831600-67847000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:67831600-67852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:67831600-67853200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr14:67831800-67837800	Strong transcription	Fetal Brain Female	brain
48	chr14:67831800-67838800	Strong transcription	HepG2	liver
49	chr14:67831800-67843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:67831800-67854600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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