Variant report

Variant	rs8012480
Chromosome Location	chr14:24594646-24594647
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24592537..24594703-chr14:24595587..24598075,2	MCF-7	breast:
2	chr14:24594471..24596735-chr14:24597574..24602481,4	K562	blood:
3	chr14:24520127..24522480-chr14:24592615..24594893,2	MCF-7	breast:
4	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139914	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000259321	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11848386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101347	0.84[AFR][1000 genomes]
rs17101478	0.92[AFR][1000 genomes]
rs61744791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160211	0.82[AFR][1000 genomes]
rs916154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24586200-24594800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:24586200-24599800	Weak transcription	Right Atrium	heart
3	chr14:24586600-24595600	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:24586800-24595000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:24587000-24595800	Strong transcription	Fetal Intestine Small	intestine
6	chr14:24589000-24604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:24589200-24597800	Weak transcription	Fetal Brain Male	brain
8	chr14:24589200-24604600	Weak transcription	A549	lung
9	chr14:24589400-24604800	Weak transcription	HUVEC	blood vessel
10	chr14:24590600-24601200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:24590600-24604600	Weak transcription	NH-A	brain
12	chr14:24590800-24600800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:24590800-24601200	Weak transcription	HMEC	breast
14	chr14:24591200-24597200	Weak transcription	NHDF-Ad	bronchial
15	chr14:24591200-24599800	Weak transcription	Psoas Muscle	Psoas
16	chr14:24591200-24604600	Weak transcription	Fetal Kidney	kidney
17	chr14:24591200-24604600	Weak transcription	Stomach Mucosa	stomach
18	chr14:24591200-24604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:24592400-24596800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:24592400-24601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:24592400-24604400	Weak transcription	Hela-S3	cervix
22	chr14:24592400-24604600	Weak transcription	NHLF	lung
23	chr14:24592600-24596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:24592600-24596000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:24592600-24604400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:24592600-24604400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:24592800-24597400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:24592800-24599800	Weak transcription	HSMMtube	muscle
29	chr14:24592800-24600400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:24592800-24601000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:24592800-24604600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:24592800-24604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:24593000-24595400	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:24593000-24597400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:24593200-24594800	Enhancers	Primary B cells from cord blood	blood
36	chr14:24593200-24599800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:24593200-24600400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:24593200-24604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:24593200-24604600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:24593200-24604600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:24593400-24597400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:24593400-24600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:24593400-24600000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:24593400-24601000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:24593400-24601000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:24593400-24601200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:24593400-24601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:24593400-24601800	Weak transcription	Esophagus	oesophagus
49	chr14:24593400-24604600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:24593400-24604600	Weak transcription	Brain Germinal Matrix	brain

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