Variant report

Variant	rs523114
Chromosome Location	chr3:119368093-119368094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119366599..119368508-chr3:119385647..119388287,2	MCF-7	breast:
2	chr3:119356916..119358623-chr3:119366628..119369264,2	K562	blood:
3	chr3:119367081..119370215-chr3:119370341..119373711,3	MCF-7	breast:
4	chr3:119367190..119369718-chr3:119370796..119372691,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121577	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2688643	0.81[YRI][hapmap]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
3	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:119357200-119383800	Weak transcription	Primary B cells from cord blood	blood
9	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:119358000-119371200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
13	chr3:119358200-119372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:119358400-119376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:119358600-119371600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:119358600-119372400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:119358600-119376800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:119361200-119369000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:119361200-119378800	Weak transcription	Fetal Thymus	thymus
20	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
21	chr3:119361400-119372600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:119361400-119378800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:119362200-119371400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:119362400-119368600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:119362400-119387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:119362600-119378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:119362600-119383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:119363200-119389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:119363200-119389800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:119365200-119372200	Enhancers	Right Atrium	heart
31	chr3:119365200-119387400	Weak transcription	Liver	Liver
32	chr3:119365400-119368800	Strong transcription	Primary T cells from cord blood	blood
33	chr3:119365400-119369000	Genic enhancers	Colon Smooth Muscle	Colon
34	chr3:119365600-119368400	Enhancers	Psoas Muscle	Psoas
35	chr3:119366000-119368800	Weak transcription	HepG2	liver
36	chr3:119366200-119368200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:119367000-119371000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:119367000-119371000	Weak transcription	HSMM	muscle
39	chr3:119367200-119368400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:119367200-119368600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:119367200-119369400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:119367200-119371000	Weak transcription	HSMMtube	muscle
43	chr3:119367200-119371200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:119367200-119375600	Weak transcription	GM12878-XiMat	blood
45	chr3:119367200-119378800	Weak transcription	Gastric	stomach
46	chr3:119367200-119381800	Weak transcription	Fetal Lung	lung
47	chr3:119367400-119368400	Genic enhancers	Left Ventricle	heart
48	chr3:119367400-119369000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:119367400-119370400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:119367400-119371200	Weak transcription	Spleen	Spleen

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