Variant report

Variant	rs3784931
Chromosome Location	chr16:75676670-75676671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75676644-75676821	K562	blood:	n/a	n/a
2	POLR2A	chr16:75676123-75676788	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:75676307-75676691	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75602005..75604568-chr16:75676521..75678047,2	MCF-7	breast:
2	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:

Variant related genes	Relation type
KARS	TF binding region
ENSG00000065427	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12445123	1.00[ASN][1000 genomes]
rs12919273	1.00[ASN][1000 genomes]
rs34084576	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34838148	0.83[ASN][1000 genomes]
rs34993363	0.86[ASN][1000 genomes]
rs7189005	1.00[ASN][1000 genomes]
rs7189069	1.00[ASN][1000 genomes]
rs7196038	1.00[ASN][1000 genomes]
rs7201040	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9937608	1.00[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	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75658400-75679200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:75658400-75679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75658400-75679800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:75658600-75678200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:75658800-75677000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr16:75658800-75679800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:75659000-75677000	Strong transcription	Brain Substantia Nigra	brain
8	chr16:75659000-75678200	Strong transcription	Fetal Muscle Leg	muscle
9	chr16:75659000-75678400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:75659200-75678000	Strong transcription	HepG2	liver
11	chr16:75659200-75680000	Strong transcription	Fetal Stomach	stomach
12	chr16:75659200-75680000	Strong transcription	A549	lung
13	chr16:75659200-75680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:75659400-75676800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:75659400-75677200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr16:75659400-75678400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:75659400-75678400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:75659400-75679600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:75659400-75680000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:75659600-75676800	Strong transcription	Left Ventricle	heart
21	chr16:75659600-75677000	Strong transcription	Brain Hippocampus Middle	brain
22	chr16:75659600-75678200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr16:75659600-75678200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:75659600-75678200	Strong transcription	Fetal Intestine Large	intestine
25	chr16:75659600-75678400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:75659600-75678600	Strong transcription	Liver	Liver
27	chr16:75659600-75678800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:75659600-75679200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr16:75659600-75679400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:75659600-75679600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:75659600-75679600	Strong transcription	Placenta	Placenta
32	chr16:75659600-75679600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:75659600-75679800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:75659600-75679800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:75659800-75677400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:75659800-75678600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:75659800-75679400	Strong transcription	HSMM	muscle
38	chr16:75659800-75679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:75659800-75679600	Strong transcription	Osteobl	bone
40	chr16:75660000-75676800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:75660000-75676800	Strong transcription	NH-A	brain
42	chr16:75660000-75677200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr16:75660000-75678200	Strong transcription	Fetal Intestine Small	intestine
44	chr16:75660000-75679000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:75660000-75679600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:75661000-75678200	Strong transcription	Colon Smooth Muscle	Colon
47	chr16:75662600-75676800	Strong transcription	Thymus	Thymus
48	chr16:75662600-75677800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:75662800-75676800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:75662800-75677400	Strong transcription	Adipose Nuclei	Adipose

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