Variant report

Variant	rs186183554
Chromosome Location	chr3:142164217-142164218
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	CEBPB	chr3:142163982-142164269	HepG2	liver:	n/a	chr3:142164115-142164132 chr3:142164150-142164161
2	CEBPB	chr3:142164067-142164217	A549	lung:	n/a	chr3:142164115-142164132 chr3:142164150-142164161

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:111 , 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	chr3:142150000-142164400	Weak transcription	Aorta	Aorta
5	chr3:142150000-142164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:142150200-142164400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:142150200-142164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:142150200-142164600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:142150200-142164600	Weak transcription	HSMMtube	muscle
10	chr3:142150400-142164400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:142150400-142164400	Weak transcription	HSMM	muscle
12	chr3:142150400-142164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:142150400-142164600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:142150400-142164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:142150600-142165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:142151600-142164400	Weak transcription	Osteobl	bone
17	chr3:142151600-142164600	Weak transcription	NH-A	brain
18	chr3:142151800-142164600	Weak transcription	Fetal Lung	lung
19	chr3:142152200-142164400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:142152200-142164400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:142152200-142164400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:142154000-142164400	Weak transcription	HUVEC	blood vessel
23	chr3:142154600-142166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:142156200-142164600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:142158800-142164600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:142158800-142164600	Weak transcription	Right Atrium	heart
27	chr3:142159000-142164400	Weak transcription	NHEK	skin
28	chr3:142159000-142164600	Weak transcription	Esophagus	oesophagus
29	chr3:142159400-142164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:142159400-142164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:142159800-142164400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:142159800-142164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:142159800-142164600	Weak transcription	Gastric	stomach
34	chr3:142160000-142164600	Weak transcription	Left Ventricle	heart
35	chr3:142160000-142166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:142160600-142164400	Weak transcription	Psoas Muscle	Psoas
37	chr3:142160800-142165400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:142161200-142164400	Weak transcription	HMEC	breast
39	chr3:142162000-142164400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:142162000-142164400	Enhancers	Liver	Liver
41	chr3:142162000-142164600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr3:142162200-142164400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:142162400-142164400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr3:142162400-142164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:142162600-142164400	Weak transcription	Brain Germinal Matrix	brain
46	chr3:142162600-142164800	Weak transcription	Fetal Brain Female	brain
47	chr3:142163000-142164400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:142163000-142164400	Weak transcription	Adipose Nuclei	Adipose
49	chr3:142163000-142164400	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:142163000-142165400	Weak transcription	Placenta	Placenta

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