Variant report

Variant	rs4982459
Chromosome Location	chr14:22025258-22025259
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: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	chr14:21992613..21994991-chr14:22023971..22027172,3	MCF-7	breast:
2	chr14:21965159..21967752-chr14:22024395..22027094,3	MCF-7	breast:
3	chr14:21964090..21967088-chr14:22024145..22025808,2	K562	blood:
4	chr14:21966135..21967334-chr14:22024735..22026336,7	MCF-7	breast:
5	chr14:21967474..21971361-chr14:22024015..22027387,4	K562	blood:
6	chr14:21943805..21947202-chr14:22023911..22025866,3	K562	blood:
7	chr14:21965103..21966895-chr14:22024708..22027624,2	K562	blood:
8	chr14:21922916..21925515-chr14:22024387..22026988,2	K562	blood:
9	chr14:21944973..21947202-chr14:22024154..22026092,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129472	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000165821	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2094687	1.00[ASN][1000 genomes]
rs2319864	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982460	1.00[ASN][1000 genomes]
rs58537405	1.00[ASN][1000 genomes]
rs61971782	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61971783	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61971788	1.00[ASN][1000 genomes]
rs61973245	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22021000-22025400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:22022200-22026200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:22023800-22025400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:22024000-22025400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:22024200-22025400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:22024400-22025400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:22024400-22025400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:22024400-22025400	Weak transcription	K562	blood
10	chr14:22024400-22027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:22024600-22025400	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:22024600-22025400	Weak transcription	Fetal Kidney	kidney
13	chr14:22024600-22025600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:22024600-22025600	Enhancers	Fetal Lung	lung
15	chr14:22024600-22026200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:22024800-22025400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:22024800-22025400	Enhancers	Fetal Brain Female	brain
18	chr14:22024800-22025400	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:22024800-22025400	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:22024800-22025400	Enhancers	A549	lung
21	chr14:22024800-22025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:22025000-22025400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:22025000-22025400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:22025000-22025400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:22025000-22025400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:22025000-22025400	Enhancers	Brain Anterior Caudate	brain
27	chr14:22025000-22025400	Enhancers	Brain Hippocampus Middle	brain
28	chr14:22025000-22025400	Enhancers	Fetal Brain Male	brain
29	chr14:22025000-22025600	Enhancers	Fetal Muscle Leg	muscle
30	chr14:22025000-22025800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:22025000-22025800	Flanking Active TSS	HepG2	liver
32	chr14:22025000-22026400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:22025200-22025400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:22025200-22025400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:22025200-22025400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:22025200-22025400	Enhancers	Colonic Mucosa	Colon
37	chr14:22025200-22025400	Enhancers	Colon Smooth Muscle	Colon
38	chr14:22025200-22025400	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:22025200-22025400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:22025200-22025400	Enhancers	Fetal Intestine Large	intestine
41	chr14:22025200-22025400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:22025200-22025400	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:22025200-22025400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:22025200-22025400	Enhancers	NHEK	skin
45	chr14:22025200-22025600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:22025200-22025600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr14:22025200-22025600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr14:22025200-22025600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:22025200-22025600	Enhancers	Brain Substantia Nigra	brain
50	chr14:22025200-22026200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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