Variant report

Variant	rs8004030
Chromosome Location	chr14:68061112-68061113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68061087..68063702-chr14:68065115..68068429,3	K562	blood:

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12893796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895117	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899210	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
4	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
8	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
10	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
11	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
13	chr14:68051800-68064600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68052200-68061200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:68052200-68061200	Strong transcription	Left Ventricle	heart
16	chr14:68052200-68062600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:68052400-68061400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:68052800-68062800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68053000-68061400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:68053000-68061400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:68053200-68066000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:68053400-68062600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:68053400-68065800	Weak transcription	Osteobl	bone
24	chr14:68053600-68065800	Weak transcription	NH-A	brain
25	chr14:68053600-68066000	Weak transcription	HUVEC	blood vessel
26	chr14:68054200-68061200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:68054400-68061200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:68054400-68065800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:68054600-68061200	Strong transcription	Dnd41	blood
30	chr14:68054800-68061200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68054800-68066000	Weak transcription	HSMM	muscle
32	chr14:68054800-68066000	Weak transcription	NHLF	lung
33	chr14:68055200-68065600	Weak transcription	HSMMtube	muscle
34	chr14:68055200-68065800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:68055600-68066200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:68055600-68066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:68055600-68066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:68055800-68063800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:68055800-68065600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:68056400-68064800	Weak transcription	GM12878-XiMat	blood
41	chr14:68056600-68065600	Weak transcription	NHDF-Ad	bronchial
42	chr14:68056800-68065000	Weak transcription	HMEC	breast
43	chr14:68056800-68065800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:68057000-68061200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:68057000-68063200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:68057000-68063800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:68057000-68065000	Weak transcription	NHEK	skin
48	chr14:68057000-68065600	Weak transcription	Hela-S3	cervix
49	chr14:68057400-68065600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:68057400-68065800	Weak transcription	Brain Anterior Caudate	brain

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