Variant report

Variant	rs10483772
Chromosome Location	chr14:63935139-63935140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63933636..63935458-chr14:63958856..63960563,2	MCF-7	breast:
2	chr14:63932729..63935549-chr14:63936370..63938209,3	MCF-7	breast:
3	chr14:63934058..63936616-chr14:64202473..64205230,2	K562	blood:
4	chr14:63934904..63936738-chr14:63941732..63944394,2	MCF-7	breast:
5	chr14:63933605..63937340-chr14:63947351..63949899,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252749	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11847226	0.94[YRI][hapmap]
rs17101183	0.93[YRI][hapmap]
rs17101208	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101216	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58971087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197840	0.80[AFR][1000 genomes]
rs73274639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274663	0.98[AFR][1000 genomes]
rs73274669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004195	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009163	0.94[YRI][hapmap]
rs8022747	0.93[AFR][1000 genomes];1.00[AMR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
2	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
3	chr14:63919800-63937400	Weak transcription	NHLF	lung
4	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
5	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
6	chr14:63920400-63937600	Weak transcription	Fetal Intestine Large	intestine
7	chr14:63920600-63937800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:63920800-63936000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:63920800-63936800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:63921000-63937600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:63921000-63937600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:63921000-63937800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:63921000-63944600	Weak transcription	Dnd41	blood
14	chr14:63921200-63935200	Weak transcription	Primary T cells from cord blood	blood
15	chr14:63921600-63937600	Weak transcription	Fetal Stomach	stomach
16	chr14:63922000-63935200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:63922000-63936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:63922000-63936800	Weak transcription	Esophagus	oesophagus
19	chr14:63922000-63936800	Weak transcription	Gastric	stomach
20	chr14:63922000-63936800	Weak transcription	Lung	lung
21	chr14:63922000-63937600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:63922000-63937600	Weak transcription	Right Ventricle	heart
23	chr14:63922000-63937600	Weak transcription	HSMMtube	muscle
24	chr14:63922000-63938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:63922200-63937400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:63922200-63937600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:63922200-63937600	Weak transcription	HSMM	muscle
31	chr14:63922200-63937600	Weak transcription	Osteobl	bone
32	chr14:63922200-63938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:63922200-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:63925200-63937600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:63925200-63937800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:63927000-63937000	Weak transcription	Stomach Mucosa	stomach
37	chr14:63927200-63935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:63927800-63937600	Weak transcription	Brain Anterior Caudate	brain
39	chr14:63928000-63935800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:63928000-63939600	Weak transcription	Primary B cells from cord blood	blood
41	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:63928200-63937600	Weak transcription	K562	blood
43	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:63931400-63935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:63931400-63936800	Weak transcription	Psoas Muscle	Psoas
47	chr14:63931400-63936800	Weak transcription	Spleen	Spleen
48	chr14:63931400-63937400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:63931400-63937600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:63931400-63937600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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