Variant report

Variant	rs61988242
Chromosome Location	chr14:68013252-68013253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68004825..68008195-chr14:68010390..68013765,5	MCF-7	breast:
2	chr14:67998037..68001825-chr14:68010687..68017336,14	MCF-7	breast:
3	chr14:67984594..67987066-chr14:68011805..68015466,3	MCF-7	breast:
4	chr14:68008274..68010027-chr14:68011299..68013623,2	K562	blood:
5	chr14:67998658..68003192-chr14:68011960..68016851,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3742866	0.90[ASN][1000 genomes]
rs59155762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61266185	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61988243	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988244	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988246	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61988247	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61988251	0.91[EUR][1000 genomes]
rs7150000	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:68001800-68023600	Weak transcription	HepG2	liver
5	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
6	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
7	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:68005800-68042400	Weak transcription	NHEK	skin
10	chr14:68008800-68013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:68008800-68013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
13	chr14:68009000-68013800	Weak transcription	Pancreas	Pancrea
14	chr14:68009000-68016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:68009000-68024800	Weak transcription	Gastric	stomach
17	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:68009200-68014000	Weak transcription	Fetal Stomach	stomach
20	chr14:68009200-68016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:68009200-68020200	Weak transcription	Stomach Mucosa	stomach
22	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:68009600-68013600	Weak transcription	Colonic Mucosa	Colon
28	chr14:68009800-68014000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr14:68010200-68013400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:68010200-68014000	Strong transcription	Brain Angular Gyrus	brain
31	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
32	chr14:68010800-68018600	Weak transcription	Psoas Muscle	Psoas
33	chr14:68011200-68013800	Strong transcription	Brain Hippocampus Middle	brain
34	chr14:68011800-68014600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
37	chr14:68012000-68013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:68012000-68013600	Weak transcription	Brain Anterior Caudate	brain
39	chr14:68012000-68013600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:68012000-68013600	Weak transcription	Fetal Intestine Large	intestine
41	chr14:68012000-68014000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:68012000-68016400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:68012000-68016400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:68012000-68029200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:68012200-68013600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:68012400-68025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:68012400-68026200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:68012400-68028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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