Variant report

Variant	rs72721044
Chromosome Location	chr14:68039522-68039523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67987540..67990251-chr14:68039422..68041358,2	K562	blood:
2	chr14:67998150..68002925-chr14:68034555..68041423,8	MCF-7	breast:
3	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
4	chr14:68038268..68041099-chr14:68047441..68049994,2	K562	blood:
5	chr14:67998411..68001693-chr14:68037282..68040664,3	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3742872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742875	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45474396	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61990083	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61990086	0.80[AMR][1000 genomes]
rs61990087	0.80[AMR][1000 genomes]
rs61990109	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61990110	0.80[AMR][1000 genomes]
rs61990111	0.80[AMR][1000 genomes]
rs61990112	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61990113	0.80[AMR][1000 genomes]
rs61990114	0.80[AMR][1000 genomes]
rs61990115	0.80[AMR][1000 genomes]
rs61990116	0.80[AMR][1000 genomes]
rs61990117	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6573785	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146307	0.80[AMR][1000 genomes]
rs749270	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010574	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
3	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
4	chr14:68005800-68042400	Weak transcription	NHEK	skin
5	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
6	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
12	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
14	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
15	chr14:68022800-68053000	Weak transcription	Lung	lung
16	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:68026600-68055200	Weak transcription	HMEC	breast
19	chr14:68027600-68045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:68029800-68040000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:68029800-68042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:68030000-68040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:68030000-68041600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:68030000-68042200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:68030000-68042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:68030000-68044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:68030200-68041600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:68031000-68040200	Genic enhancers	Brain Substantia Nigra	brain
29	chr14:68032200-68040000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:68032600-68042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:68034000-68043800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:68034400-68043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:68034400-68052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:68034600-68043000	Weak transcription	Esophagus	oesophagus
35	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:68034800-68044800	Weak transcription	Adipose Nuclei	Adipose
37	chr14:68034800-68047200	Weak transcription	Stomach Mucosa	stomach
38	chr14:68035400-68039800	Weak transcription	Fetal Brain Female	brain
39	chr14:68036400-68040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:68036800-68039600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:68036800-68039600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:68036800-68040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:68036800-68052400	Weak transcription	Fetal Thymus	thymus
44	chr14:68037000-68039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68038200-68040400	Strong transcription	Brain Hippocampus Middle	brain
46	chr14:68038200-68040800	Genic enhancers	Fetal Intestine Small	intestine
47	chr14:68038400-68039600	Weak transcription	Brain Angular Gyrus	brain
48	chr14:68038400-68042200	Weak transcription	Colonic Mucosa	Colon
49	chr14:68038400-68052200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr14:68038400-68052400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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