Variant report

Variant	rs61990083
Chromosome Location	chr14:68065102-68065103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68057944..68060772-chr14:68062849..68065164,2	K562	blood:
2	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:
3	chr14:68003774..68006683-chr14:68064247..68065848,2	MCF-7	breast:
4	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
5	chr14:68065024..68066751-chr14:68160977..68163130,3	K562	blood:
6	chr14:68036651..68038481-chr14:68063645..68066498,2	MCF-7	breast:
7	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129995	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3742872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742875	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45474396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899212	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61990084	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61990086	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990087	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990109	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990110	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990111	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990112	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990113	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990114	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990115	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990116	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990117	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573785	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146307	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72721044	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749270	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011057	0.84[AMR][1000 genomes];0.89[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:117 , 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	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
3	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
6	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
8	chr14:68053200-68066000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:68053400-68065800	Weak transcription	Osteobl	bone
10	chr14:68053600-68065800	Weak transcription	NH-A	brain
11	chr14:68053600-68066000	Weak transcription	HUVEC	blood vessel
12	chr14:68054400-68065800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:68054800-68066000	Weak transcription	HSMM	muscle
14	chr14:68054800-68066000	Weak transcription	NHLF	lung
15	chr14:68055200-68065600	Weak transcription	HSMMtube	muscle
16	chr14:68055200-68065800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:68055600-68066200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:68055600-68066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:68055600-68066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:68055800-68065600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:68056600-68065600	Weak transcription	NHDF-Ad	bronchial
22	chr14:68056800-68065800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:68057000-68065600	Weak transcription	Hela-S3	cervix
24	chr14:68057400-68065600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:68057400-68065800	Weak transcription	Brain Anterior Caudate	brain
26	chr14:68057600-68065600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:68057600-68065800	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:68057600-68066000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:68057600-68066200	Weak transcription	Esophagus	oesophagus
30	chr14:68057600-68066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:68058600-68065600	Weak transcription	Right Ventricle	heart
32	chr14:68058600-68066000	Weak transcription	Psoas Muscle	Psoas
33	chr14:68059200-68065800	Weak transcription	Brain Angular Gyrus	brain
34	chr14:68059200-68065800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:68059200-68066000	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:68059200-68066200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:68059200-68066200	Weak transcription	Gastric	stomach
38	chr14:68059200-68066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:68059400-68065800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:68059400-68065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:68059400-68065800	Weak transcription	Brain Substantia Nigra	brain
42	chr14:68059400-68066200	Weak transcription	Pancreas	Pancrea
43	chr14:68059400-68066200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:68059600-68065600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:68059600-68065800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:68059600-68066000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:68060200-68066200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:68060200-68066400	Weak transcription	Spleen	Spleen
49	chr14:68060400-68066200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:68060400-68066200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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