Variant report

Variant	rs530489396
Chromosome Location	chr3:142842785-142842786
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
2	chr3:142832736..142834624-chr3:142842242..142844343,2	K562	blood:
3	chr3:142729466..142731298-chr3:142840071..142842956,2	K562	blood:
4	chr3:142842312..142844525-chr3:142920222..142922927,2	K562	blood:
5	chr3:142799728..142802020-chr3:142842393..142844077,2	K562	blood:
6	chr3:142842351..142844405-chr3:142885462..142887277,2	K562	blood:
7	chr3:142842296..142843845-chr3:142877160..142879229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163714	Chromatin interaction
ENSG00000211483	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142837800-142843400	Active TSS	Fetal Kidney	kidney
2	chr3:142839200-142845800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr3:142839200-142847200	Transcr. at gene 5' and 3'	Fetal Lung	lung
4	chr3:142839600-142843200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:142840200-142842800	Weak transcription	Liver	Liver
6	chr3:142840200-142843000	Flanking Active TSS	GM12878-XiMat	blood
7	chr3:142840200-142843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:142840400-142843000	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:142840400-142843400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:142840400-142843400	Weak transcription	HSMMtube	muscle
11	chr3:142840400-142843600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:142840400-142843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:142840600-142842800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:142840600-142843200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:142840600-142843600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:142840600-142845200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:142840800-142843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:142840800-142843600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:142840800-142843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:142840800-142843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:142840800-142843800	Weak transcription	Pancreas	Pancrea
23	chr3:142841000-142842800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:142841000-142843600	Weak transcription	HSMM	muscle
25	chr3:142841000-142843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:142841200-142843000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:142841200-142843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:142841200-142843600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:142841200-142843600	Weak transcription	Gastric	stomach
31	chr3:142841200-142843800	Weak transcription	Lung	lung
32	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
35	chr3:142841400-142842800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr3:142841400-142843000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr3:142841400-142843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:142841400-142844600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr3:142841400-142844600	Active TSS	Fetal Brain Male	brain
40	chr3:142841600-142842800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr3:142841600-142843000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr3:142841600-142843600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:142841800-142842800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr3:142841800-142844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:142842000-142842800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:142842000-142843400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:142842000-142843400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:142842000-142843400	Active TSS	Thymus	Thymus
49	chr3:142842000-142843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:142842200-142842800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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