Variant report

Variant	rs4982450
Chromosome Location	chr14:21966009-21966010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21965763..21969009-chr14:21976812..21979865,4	K562	blood:
2	chr14:21935572..21937160-chr14:21965846..21967879,2	MCF-7	breast:
3	chr14:21965103..21966895-chr14:22024708..22027624,2	K562	blood:
4	chr14:21965602..21968556-chr14:21970950..21973416,3	K562	blood:
5	chr14:21964090..21967088-chr14:22024145..22025808,2	K562	blood:
6	chr14:21965159..21967752-chr14:22024395..22027094,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1263797	0.81[AMR][1000 genomes]
rs4982444	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	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
11	nsv85879	chr14:21965690-21974198	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
4	chr14:21954600-21967000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:21954600-21972600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:21954800-21966600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:21954800-21967000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21954800-21967000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:21954800-21971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:21954800-21972000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:21954800-21972000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:21954800-21972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:21954800-21972200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:21954800-21977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:21955000-21967000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:21955000-21972000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:21955000-21972400	Strong transcription	Fetal Thymus	thymus
18	chr14:21955200-21966800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:21955200-21972000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:21955200-21972200	Strong transcription	Liver	Liver
21	chr14:21955200-21972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:21955400-21966600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:21955400-21966600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:21955400-21967000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:21955400-21967400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:21955400-21971400	Strong transcription	Placenta	Placenta
27	chr14:21955400-21971600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:21955400-21972000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:21955400-21972000	Strong transcription	Fetal Intestine Large	intestine
30	chr14:21955400-21972000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr14:21955400-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:21955400-21972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:21955400-21972200	Strong transcription	Brain Anterior Caudate	brain
34	chr14:21955400-21972600	Strong transcription	Dnd41	blood
35	chr14:21955600-21966200	Strong transcription	Esophagus	oesophagus
36	chr14:21955600-21966400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:21955600-21966400	Strong transcription	Fetal Intestine Small	intestine
38	chr14:21955600-21966600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:21955600-21966600	Strong transcription	HepG2	liver
40	chr14:21955600-21967000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:21955600-21967000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:21955600-21967000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:21955600-21967000	Strong transcription	NHDF-Ad	bronchial
44	chr14:21955600-21971400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:21955600-21971400	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:21955600-21972000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:21955600-21972000	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:21955600-21972000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:21955600-21972000	Strong transcription	Fetal Lung	lung
50	chr14:21955600-21972000	Strong transcription	Fetal Stomach	stomach

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