Variant report

Variant	rs28538272
Chromosome Location	chr14:70159887-70159888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70158665..70161434-chr14:70169533..70173159,3	K562	blood:
2	chr14:70159393..70161509-chr14:70164413..70166965,3	MCF-7	breast:
3	chr14:70120608..70122664-chr14:70158495..70160028,2	K562	blood:
4	chr14:70158843..70161207-chr14:70166333..70168210,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10047848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140437	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148264	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148957	1.00[AMR][1000 genomes]
rs10149936	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150246	1.00[AMR][1000 genomes]
rs10151989	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220277	0.84[AFR][1000 genomes]
rs11847514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275744	1.00[AMR][1000 genomes]
rs9805962	0.89[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:70153600-70160400	Weak transcription	NHEK	skin
3	chr14:70153800-70160600	Weak transcription	HMEC	breast
4	chr14:70155200-70160400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:70155200-70161400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70155200-70162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:70155400-70160400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:70155800-70161400	Weak transcription	HSMMtube	muscle
9	chr14:70156800-70164000	Enhancers	Fetal Muscle Leg	muscle
10	chr14:70157000-70162000	Enhancers	Brain Hippocampus Middle	brain
11	chr14:70157400-70161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:70157400-70164000	Enhancers	Adipose Nuclei	Adipose
13	chr14:70157600-70161000	Enhancers	HepG2	liver
14	chr14:70157600-70165600	Enhancers	Fetal Heart	heart
15	chr14:70157800-70161600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:70157800-70164600	Enhancers	Psoas Muscle	Psoas
17	chr14:70158000-70160400	Enhancers	Right Ventricle	heart
18	chr14:70158000-70161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:70158200-70160400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:70158200-70160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:70158200-70165600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:70158400-70160000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:70158400-70160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:70158400-70161000	Weak transcription	Esophagus	oesophagus
26	chr14:70158400-70161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:70158400-70165600	Enhancers	Small Intestine	intestine
28	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:70158600-70164600	Enhancers	Spleen	Spleen
31	chr14:70158800-70160000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:70158800-70160000	Enhancers	Fetal Brain Female	brain
33	chr14:70158800-70161000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:70158800-70161000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:70158800-70161000	Enhancers	K562	blood
36	chr14:70158800-70163200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:70158800-70163400	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:70158800-70163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:70158800-70163600	Enhancers	Liver	Liver
40	chr14:70158800-70164000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:70158800-70164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:70158800-70164600	Enhancers	Brain Anterior Caudate	brain
43	chr14:70158800-70164600	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:70158800-70164600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:70158800-70164600	Enhancers	Fetal Intestine Large	intestine
46	chr14:70158800-70164800	Enhancers	Fetal Intestine Small	intestine
47	chr14:70158800-70165600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:70159000-70160000	Flanking Active TSS	GM12878-XiMat	blood
49	chr14:70159000-70160200	Enhancers	Primary B cells from cord blood	blood
50	chr14:70159000-70160200	Enhancers	Fetal Brain Male	brain

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