Variant report

Variant	rs731680
Chromosome Location	chr14:68010453-68010454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68010446..68012752-chr14:68015925..68018334,2	K562	blood:
2	chr14:68004825..68008195-chr14:68010390..68013765,5	MCF-7	breast:
3	chr14:68009818..68011946-chr14:68016473..68018334,2	K562	blood:
4	chr14:67999033..68001548-chr14:68008899..68011774,3	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10873205	0.88[YRI][hapmap]
rs12435433	0.93[AFR][1000 genomes]
rs17184938	0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742867	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs7141506	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs7148708	0.83[ASN][1000 genomes]
rs731681	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs8006273	1.00[CHB][hapmap];0.91[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68000800-68011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:68000800-68013000	Weak transcription	A549	lung
4	chr14:68001000-68010600	Weak transcription	Hela-S3	cervix
5	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:68001800-68023600	Weak transcription	HepG2	liver
8	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
9	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
10	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:68005600-68010800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:68005600-68011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:68005800-68042400	Weak transcription	NHEK	skin
15	chr14:68006200-68011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:68008200-68011200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:68008600-68010800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68008600-68011200	Genic enhancers	Brain Hippocampus Middle	brain
19	chr14:68008800-68011200	Strong transcription	Fetal Brain Female	brain
20	chr14:68008800-68012200	Strong transcription	Placenta	Placenta
21	chr14:68008800-68013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:68008800-68013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
24	chr14:68009000-68011600	Genic enhancers	Brain Substantia Nigra	brain
25	chr14:68009000-68013800	Weak transcription	Pancreas	Pancrea
26	chr14:68009000-68016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:68009000-68024800	Weak transcription	Gastric	stomach
29	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:68009200-68010600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:68009200-68011000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:68009200-68012200	Weak transcription	K562	blood
34	chr14:68009200-68014000	Weak transcription	Fetal Stomach	stomach
35	chr14:68009200-68016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:68009200-68020200	Weak transcription	Stomach Mucosa	stomach
37	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:68009400-68010800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:68009400-68011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:68009400-68012400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:68009600-68010800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:68009600-68011600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:68009600-68013600	Weak transcription	Colonic Mucosa	Colon
48	chr14:68009800-68011600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:68009800-68012800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:68009800-68014000	Strong transcription	Rectal Mucosa Donor 31	rectum

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