Variant report

Variant	rs562061356
Chromosome Location	chr3:142164527-142164528
allele	A/C
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	JUN	chr3:142164458-142164652	K562	blood:	n/a	n/a
2	MXI1	chr3:142164504-142165213	GM12878	blood:	n/a	n/a
3	WRNIP1	chr3:142164477-142164858	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142164147..142165687-chr3:142176096..142178245,2	K562	blood:

Variant related genes	Relation type
ENSG00000242479	TF binding region
ENSG00000175054	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 target site	61 gene(s)	inside rSNPs	diseases
2	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
5	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
9	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142138600-142164600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:142142200-142165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:142149800-142165000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:142150000-142164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:142150200-142164600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:142150200-142164600	Weak transcription	HSMMtube	muscle
7	chr3:142150400-142164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:142150400-142164600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:142150400-142164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:142150600-142165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:142151600-142164600	Weak transcription	NH-A	brain
12	chr3:142151800-142164600	Weak transcription	Fetal Lung	lung
13	chr3:142154600-142166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:142156200-142164600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:142158800-142164600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:142158800-142164600	Weak transcription	Right Atrium	heart
17	chr3:142159000-142164600	Weak transcription	Esophagus	oesophagus
18	chr3:142159400-142164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:142159800-142164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:142159800-142164600	Weak transcription	Gastric	stomach
21	chr3:142160000-142164600	Weak transcription	Left Ventricle	heart
22	chr3:142160000-142166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:142160800-142165400	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:142162000-142164600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:142162400-142164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:142162600-142164800	Weak transcription	Fetal Brain Female	brain
27	chr3:142163000-142165400	Weak transcription	Placenta	Placenta
28	chr3:142163200-142165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:142163200-142167400	Active TSS	GM12878-XiMat	blood
30	chr3:142163400-142164600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:142163400-142164600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:142163400-142164600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:142163400-142164600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:142163400-142164600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:142163400-142164600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:142163400-142164600	Weak transcription	Fetal Stomach	stomach
37	chr3:142163400-142164600	Weak transcription	Fetal Thymus	thymus
38	chr3:142163400-142164600	Weak transcription	Ovary	ovary
39	chr3:142163400-142164600	Weak transcription	Small Intestine	intestine
40	chr3:142163400-142164600	Weak transcription	Spleen	Spleen
41	chr3:142163400-142165000	Weak transcription	Right Ventricle	heart
42	chr3:142163400-142165800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:142163400-142166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:142163400-142166000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:142163400-142166000	Weak transcription	Lung	lung
46	chr3:142163600-142166000	Weak transcription	Pancreas	Pancrea
47	chr3:142163800-142164800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:142164000-142164600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:142164000-142164600	Enhancers	Hela-S3	cervix
50	chr3:142164000-142164600	Enhancers	NHDF-Ad	bronchial

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