Variant report

Variant	rs8045552
Chromosome Location	chr16:30422535-30422536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30420410..30423288-chr16:30429458..30434013,4	K562	blood:
2	chr16:30415573..30417353-chr16:30421502..30423449,2	K562	blood:
3	chr16:30417017..30420498-chr16:30421320..30424388,3	MCF-7	breast:
4	chr16:30420327..30422789-chr16:30456315..30458566,2	K562	blood:
5	chr16:30387323..30391526-chr16:30418280..30422943,8	MCF-7	breast:
6	chr16:30380922..30382498-chr16:30421688..30423682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179918	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000179965	Chromatin interaction

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

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

rs_ID	r²[population]
rs59324423	0.91[AFR][1000 genomes]
rs59594717	0.91[AFR][1000 genomes]
rs60628262	0.91[AFR][1000 genomes]
rs60749749	0.91[AFR][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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30419200-30428800	Weak transcription	Small Intestine	intestine
2	chr16:30419600-30422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:30419600-30423000	Weak transcription	Aorta	Aorta
4	chr16:30419600-30428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:30419800-30422800	Genic enhancers	Fetal Muscle Leg	muscle
6	chr16:30419800-30423000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:30419800-30423000	Weak transcription	Lung	lung
8	chr16:30419800-30423000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:30419800-30425200	Weak transcription	Psoas Muscle	Psoas
10	chr16:30419800-30425200	Weak transcription	Right Atrium	heart
11	chr16:30419800-30425600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:30419800-30428600	Weak transcription	Esophagus	oesophagus
13	chr16:30419800-30428800	Weak transcription	Gastric	stomach
14	chr16:30420000-30422600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:30420000-30422800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr16:30420000-30423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:30420000-30428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:30420200-30422600	Weak transcription	Right Ventricle	heart
19	chr16:30420800-30422800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:30420800-30422800	Weak transcription	Fetal Kidney	kidney
21	chr16:30420800-30423000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:30420800-30423000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:30420800-30425800	Strong transcription	Fetal Intestine Small	intestine
24	chr16:30421000-30423000	Weak transcription	HMEC	breast
25	chr16:30421000-30424800	Weak transcription	Thymus	Thymus
26	chr16:30421000-30426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:30421000-30426000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:30421000-30426000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:30421000-30427000	Weak transcription	GM12878-XiMat	blood
30	chr16:30421000-30428200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr16:30421000-30428400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:30421200-30422600	Weak transcription	Fetal Thymus	thymus
33	chr16:30421200-30422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:30421200-30422800	Weak transcription	Brain Anterior Caudate	brain
35	chr16:30421200-30422800	Weak transcription	Brain Germinal Matrix	brain
36	chr16:30421200-30422800	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:30421200-30422800	Weak transcription	Fetal Brain Female	brain
38	chr16:30421200-30422800	Weak transcription	Left Ventricle	heart
39	chr16:30421200-30422800	Weak transcription	Ovary	ovary
40	chr16:30421200-30422800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr16:30421200-30422800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:30421200-30422800	Weak transcription	HSMMtube	muscle
43	chr16:30421200-30423000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:30421200-30423200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr16:30421200-30423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:30421200-30425200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:30421200-30425800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:30421200-30426000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:30421200-30428200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:30421200-30428200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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