Variant report

Variant	rs62043928
Chromosome Location	chr16:81505173-81505174
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	chr16:81504288..81507057-chr16:81508113..81511868,3	MCF-7	breast:
2	chr16:81500553..81502385-chr16:81503708..81505589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260229	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12443828	0.84[ASN][1000 genomes]
rs17197603	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2925998	0.93[ASN][1000 genomes]
rs2927300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927335	0.88[ASN][1000 genomes]
rs2927336	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2927337	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044403	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3401957	chr16:81502651-81507149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3419798	chr16:81503451-81507349	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
2	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
3	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:81492200-81512200	Genic enhancers	A549	lung
7	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:81496800-81506200	Weak transcription	NHLF	lung
9	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:81497600-81514600	Weak transcription	HSMM	muscle
11	chr16:81498000-81506600	Weak transcription	Ovary	ovary
12	chr16:81500400-81506200	Weak transcription	NHDF-Ad	bronchial
13	chr16:81500400-81506800	Weak transcription	Osteobl	bone
14	chr16:81500800-81506600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:81500800-81506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:81501000-81506000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:81501000-81506400	Weak transcription	Right Ventricle	heart
18	chr16:81501000-81506600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:81501400-81506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:81501800-81506400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:81502000-81505200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr16:81502800-81506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
26	chr16:81503600-81505600	Weak transcription	Pancreas	Pancrea
27	chr16:81503600-81505600	Weak transcription	HUVEC	blood vessel
28	chr16:81503800-81511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:81504000-81505200	Weak transcription	Small Intestine	intestine
30	chr16:81504000-81505200	Strong transcription	HepG2	liver
31	chr16:81504000-81505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:81504000-81506200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr16:81504000-81506200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:81504000-81506600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:81504000-81506600	Weak transcription	Brain Anterior Caudate	brain
36	chr16:81504000-81507000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr16:81504000-81509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:81504000-81511600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:81504200-81505200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr16:81504200-81505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:81504200-81506000	Weak transcription	Left Ventricle	heart
43	chr16:81504200-81506200	Weak transcription	Stomach Mucosa	stomach
44	chr16:81504200-81506400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr16:81504200-81506800	Weak transcription	NH-A	brain
46	chr16:81504200-81507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:81504200-81507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:81504400-81505200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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