Variant report

Variant	rs16903313
Chromosome Location	chr5:14211770-14211771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14143032..14145468-chr5:14211003..14213160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs164362	1.00[MEX][hapmap]
rs164522	0.90[AMR][1000 genomes]
rs164523	0.90[AMR][1000 genomes]
rs16903278	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057518	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057525	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
2	chr5:14202200-14212600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
4	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:14205200-14212000	Weak transcription	Aorta	Aorta
7	chr5:14205400-14212000	Enhancers	Primary B cells from cord blood	blood
8	chr5:14205400-14212800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:14205400-14213000	Weak transcription	Brain Angular Gyrus	brain
10	chr5:14205400-14214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:14205400-14214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
13	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:14205600-14213000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:14205600-14213200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:14205600-14213400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:14205800-14215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:14206600-14211800	Enhancers	Fetal Lung	lung
21	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
22	chr5:14207000-14212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:14207000-14212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:14207600-14214800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:14208400-14212400	Weak transcription	Primary T cells from cord blood	blood
26	chr5:14208400-14212600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:14208400-14213800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:14208800-14211800	Enhancers	Osteobl	bone
29	chr5:14208800-14212600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:14209000-14212400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:14209000-14214000	Enhancers	NHEK	skin
32	chr5:14209000-14214600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:14209000-14218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:14209200-14212000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:14209200-14213200	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:14209200-14214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:14209200-14214600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:14209200-14214600	Enhancers	NHLF	lung
39	chr5:14209400-14212600	Enhancers	HepG2	liver
40	chr5:14209600-14212400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:14209600-14213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:14209600-14214200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:14209800-14212400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:14210000-14212400	Enhancers	HSMM	muscle
45	chr5:14210200-14214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:14210200-14216800	Weak transcription	Placenta	Placenta
47	chr5:14210400-14213800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:14210400-14214000	Weak transcription	Gastric	stomach
49	chr5:14210400-14215000	Enhancers	Fetal Intestine Small	intestine
50	chr5:14210400-14216600	Weak transcription	Fetal Stomach	stomach

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