Variant report

Variant	rs531129888
Chromosome Location	chr16:81119459-81119460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81118252..81120833-chr16:81125164..81126859,2	K562	blood:
2	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245059	Chromatin interaction
ENSG00000166455	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv978006	chr16:81115953-81121318	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv1003113	chr16:81118638-81119901	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2490578	chr16:81119006-81120452	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv6143	chr16:81119234-81120067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv2127465	chr16:81119285-81119994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3401465	chr16:81119340-81119892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3494460	chr16:81119343-81119893	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3494461	chr16:81119379-81119899	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3421498	chr16:81119444-81119834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81122400	Weak transcription	Lung	lung
2	chr16:81111400-81122600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:81111400-81122800	Weak transcription	Ovary	ovary
4	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
6	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
8	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
9	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81111400-81129000	Weak transcription	Gastric	stomach
11	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:81111600-81120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:81111600-81120800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:81111600-81122000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:81111600-81122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:81111600-81122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81111600-81122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:81111600-81122400	Weak transcription	Fetal Intestine Large	intestine
19	chr16:81111600-81122400	Weak transcription	NHEK	skin
20	chr16:81111600-81122800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:81111600-81122800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
23	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:81111600-81123000	Weak transcription	HMEC	breast
25	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
27	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
28	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
29	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:81111600-81128200	Weak transcription	NH-A	brain
33	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
37	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:81111600-81128400	Weak transcription	HSMM	muscle
39	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
41	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
42	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
50	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum

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