Variant report

Variant	rs72718203
Chromosome Location	chr14:69437982-69437983
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258531	Chromatin interaction
ENSG00000072110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12895271	1.00[AFR][1000 genomes]
rs72718208	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718263	1.00[ASN][1000 genomes]
rs72718270	1.00[ASN][1000 genomes]

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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69420200-69441200	Genic enhancers	NHEK	skin
3	chr14:69420600-69441600	Genic enhancers	NH-A	brain
4	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
6	chr14:69428600-69439800	Genic enhancers	Fetal Intestine Small	intestine
7	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:69429200-69439600	Enhancers	Fetal Thymus	thymus
9	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:69429800-69441400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:69430000-69438000	Enhancers	Liver	Liver
13	chr14:69430000-69440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69430000-69441600	Genic enhancers	HSMM	muscle
15	chr14:69430200-69438800	Enhancers	Fetal Heart	heart
16	chr14:69430800-69438200	Enhancers	Pancreas	Pancrea
17	chr14:69430800-69439000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:69431000-69438200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:69431800-69438400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:69431800-69439200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
22	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69432400-69441400	Genic enhancers	HepG2	liver
24	chr14:69432600-69438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
27	chr14:69433200-69438800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:69433200-69438800	Enhancers	Spleen	Spleen
29	chr14:69433200-69442000	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr14:69434200-69441600	Weak transcription	Ovary	ovary
31	chr14:69434400-69442400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:69434600-69440400	Weak transcription	K562	blood
33	chr14:69434800-69439200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:69435200-69439400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr14:69435400-69438000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:69435600-69438000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:69435600-69439200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr14:69435600-69441600	Genic enhancers	HMEC	breast
39	chr14:69436000-69438000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:69436000-69438000	Enhancers	Dnd41	blood
41	chr14:69436000-69438400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:69436000-69439200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:69436200-69438000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:69436200-69438600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr14:69436200-69442600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:69436400-69438200	Enhancers	NHDF-Ad	bronchial
47	chr14:69436400-69438600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:69436400-69441800	Weak transcription	Brain Angular Gyrus	brain
49	chr14:69436600-69438000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:69436600-69438400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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