Variant report

Variant	rs4983612
Chromosome Location	chr14:105870650-105870651
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105869422..105871034-chr14:105955972..105957573,2	MCF-7	breast:
2	chr14:105870531..105872193-chr14:105947372..105949251,2	MCF-7	breast:
3	chr14:105869378..105870960-chr14:105955880..105957745,2	K562	blood:
4	chr14:105870344..105872105-chr14:105885926..105888778,2	K562	blood:
5	chr14:105869640..105871793-chr14:105875645..105878408,2	K562	blood:

Variant related genes	Relation type
ENSG00000251602	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000185347	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6576090	0.83[LWK][hapmap]
rs7492379	1.00[YRI][hapmap]
rs7494681	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105865600-105875000	Weak transcription	Fetal Kidney	kidney
2	chr14:105866200-105875000	Weak transcription	Brain Anterior Caudate	brain
3	chr14:105866400-105877400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:105866600-105877200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:105866600-105877400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:105866800-105871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:105866800-105877400	Weak transcription	Psoas Muscle	Psoas
8	chr14:105867000-105877200	Weak transcription	Pancreas	Pancrea
9	chr14:105867000-105877200	Weak transcription	Right Ventricle	heart
10	chr14:105867000-105877400	Weak transcription	Left Ventricle	heart
11	chr14:105867200-105877400	Weak transcription	HSMM	muscle
12	chr14:105867600-105870800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:105867600-105871000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:105867600-105871000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:105867600-105872000	Weak transcription	Dnd41	blood
16	chr14:105867600-105872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:105867600-105873200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:105867600-105875200	Weak transcription	Brain Germinal Matrix	brain
19	chr14:105867600-105875200	Weak transcription	NHLF	lung
20	chr14:105867600-105875400	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:105867600-105875400	Weak transcription	Fetal Brain Female	brain
22	chr14:105867600-105875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:105867600-105876800	Weak transcription	Gastric	stomach
24	chr14:105867600-105877000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:105867600-105877000	Weak transcription	Ovary	ovary
26	chr14:105867600-105877000	Weak transcription	Hela-S3	cervix
27	chr14:105867600-105877200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:105867600-105877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:105867600-105877400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:105867600-105877400	Weak transcription	HSMMtube	muscle
31	chr14:105867800-105872800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:105867800-105875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:105867800-105875400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:105867800-105876800	Weak transcription	Fetal Heart	heart
35	chr14:105868000-105876800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:105868400-105872800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:105868400-105873400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:105868400-105874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:105868400-105876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:105869200-105870800	Enhancers	Primary T cells from cord blood	blood
41	chr14:105869200-105871400	Enhancers	Fetal Thymus	thymus
42	chr14:105869200-105871800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:105869400-105871600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105869400-105872000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:105869600-105871200	Enhancers	GM12878-XiMat	blood
46	chr14:105869600-105871800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:105869800-105871600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr14:105869800-105872000	Enhancers	Thymus	Thymus
49	chr14:105870400-105871000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:105870400-105871600	Enhancers	Primary B cells from peripheral blood	blood

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