Variant report

Variant	rs74029843
Chromosome Location	chr16:72124871-72124872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72117368..72119841-chr16:72123694..72126741,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260252	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs470710	1.00[AMR][1000 genomes]
rs56040704	1.00[AFR][1000 genomes]
rs74029816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029826	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
10	esv3343168	chr16:72111500-72128436	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
2	chr16:72108000-72126400	Weak transcription	Fetal Heart	heart
3	chr16:72117000-72126600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:72117800-72125000	Strong transcription	Brain Hippocampus Middle	brain
5	chr16:72118200-72125000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr16:72118200-72125200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr16:72118400-72125200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:72118800-72125200	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr16:72119000-72125000	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr16:72119200-72125000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:72119200-72125000	Strong transcription	NH-A	brain
12	chr16:72119200-72125200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:72119200-72125400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:72119200-72125400	Strong transcription	Osteobl	bone
15	chr16:72119400-72125000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:72119400-72125000	Strong transcription	Left Ventricle	heart
17	chr16:72119400-72125000	Strong transcription	Dnd41	blood
18	chr16:72119400-72125200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:72119400-72125200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:72119400-72125200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:72119400-72125200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:72119400-72125400	Strong transcription	Primary T cells from cord blood	blood
23	chr16:72119400-72125400	Strong transcription	Fetal Muscle Leg	muscle
24	chr16:72119400-72125400	Strong transcription	Fetal Stomach	stomach
25	chr16:72119400-72125600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:72119400-72126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:72119400-72126400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:72119400-72126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:72119600-72125400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr16:72119600-72125600	Weak transcription	Right Atrium	heart
31	chr16:72119600-72125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:72119800-72125000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr16:72119800-72125000	Strong transcription	Ovary	ovary
34	chr16:72119800-72125200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:72119800-72125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:72120000-72125000	Strong transcription	NHLF	lung
37	chr16:72120400-72125000	Weak transcription	Fetal Intestine Small	intestine
38	chr16:72120400-72126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:72120600-72125000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:72120600-72125200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:72120600-72126800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:72121600-72125000	Strong transcription	Colonic Mucosa	Colon
43	chr16:72121800-72126400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:72122000-72125000	Strong transcription	NHEK	skin
45	chr16:72122000-72125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:72122200-72125000	Strong transcription	Brain Substantia Nigra	brain
47	chr16:72122200-72125200	Strong transcription	Fetal Lung	lung
48	chr16:72122200-72125400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr16:72122600-72125000	Strong transcription	Hela-S3	cervix
50	chr16:72123000-72125000	Genic enhancers	HepG2	liver

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