Variant report

Variant	rs2277478
Chromosome Location	chr14:24506076-24506077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24503791..24508058-chr14:24562194..24566408,5	MCF-7	breast:
2	chr14:24505124..24506975-chr14:24520204..24522367,2	MCF-7	breast:
3	chr14:24504490..24506127-chr14:24583788..24585514,2	MCF-7	breast:
4	chr14:24505359..24507247-chr14:24702110..24704400,2	MCF-7	breast:
5	chr14:24422701..24424551-chr14:24504249..24506129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129535	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000157326	Chromatin interaction
ENSG00000215256	Chromatin interaction
ENSG00000100938	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12588225	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12589203	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12590397	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1811890	0.83[EUR][1000 genomes]
rs2006084	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332130	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4981492	0.95[ASN][1000 genomes]
rs4982826	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4982833	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	esv2761633	chr14:24423582-24513917	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv901497	chr14:24429249-24514449	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv826901	chr14:24457315-24508468	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1048292	chr14:24474511-24513905	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1049192	chr14:24478882-24519250	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
12	nsv1037929	chr14:24478882-24522447	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv1052857	chr14:24479375-24513905	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1047042	chr14:24484459-24513905	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv1038839	chr14:24488131-24510197	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv1044763	chr14:24488131-24513905	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	nsv1051893	chr14:24488131-24519250	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv1043854	chr14:24488131-24522447	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	nsv1049849	chr14:24488384-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv1038278	chr14:24494063-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1042507	chr14:24494153-24513905	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv983808	chr14:24503854-24523979	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	nsv482170	chr14:24505710-24520580	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 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	chr14:24505000-24506200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:24505000-24506200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:24505000-24506200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:24505000-24506200	Active TSS	Brain Anterior Caudate	brain
5	chr14:24505000-24506200	Active TSS	Stomach Smooth Muscle	stomach
6	chr14:24505000-24506200	Active TSS	A549	lung
7	chr14:24505000-24506400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:24505000-24506600	Flanking Active TSS	Dnd41	blood
9	chr14:24505200-24506200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:24505200-24506200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:24505200-24506200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:24505200-24506200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:24505200-24506200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:24505200-24506200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:24505200-24506200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:24505200-24506200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:24505200-24506200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:24505200-24506200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24505200-24506200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:24505200-24506200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr14:24505200-24506200	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr14:24505200-24506200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:24505200-24506200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:24505200-24506200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:24505200-24506200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:24505200-24506200	Active TSS	Brain Cingulate Gyrus	brain
27	chr14:24505200-24506200	Active TSS	Brain Hippocampus Middle	brain
28	chr14:24505200-24506200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr14:24505200-24506200	Active TSS	Colon Smooth Muscle	Colon
30	chr14:24505200-24506200	Active TSS	Duodenum Mucosa	Duodenum
31	chr14:24505200-24506200	Active TSS	Fetal Heart	heart
32	chr14:24505200-24506200	Active TSS	Fetal Intestine Large	intestine
33	chr14:24505200-24506200	Active TSS	Left Ventricle	heart
34	chr14:24505200-24506200	Active TSS	Psoas Muscle	Psoas
35	chr14:24505200-24506200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:24505200-24506200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr14:24505200-24506200	Active TSS	Rectal Smooth Muscle	rectum
38	chr14:24505200-24506200	Active TSS	Right Ventricle	heart
39	chr14:24505200-24506200	Active TSS	Small Intestine	intestine
40	chr14:24505200-24506200	Active TSS	Hela-S3	cervix
41	chr14:24505200-24506200	Active TSS	Osteobl	bone
42	chr14:24505200-24506400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:24505200-24506400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:24505200-24506400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:24505200-24506400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr14:24505200-24506400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr14:24505200-24506400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:24505200-24506400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr14:24505200-24506400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr14:24505200-24506400	Active TSS	Brain Germinal Matrix	brain

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