Variant report

Variant	rs59144348
Chromosome Location	chr3:142843024-142843025
allele	A/G
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	chr3:142837925..142840306-chr3:142842832..142844357,2	MCF-7	breast:
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
ENSG00000211483	Chromatin interaction
ENSG00000175040	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61315190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:65 , 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	chr3:142840200-142843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:142840400-142843400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:142840400-142843400	Weak transcription	HSMMtube	muscle
8	chr3:142840400-142843600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:142840400-142843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:142840600-142843200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:142840600-142843600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:142840600-142845200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:142840800-142843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:142840800-142843600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:142840800-142843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:142840800-142843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:142840800-142843800	Weak transcription	Pancreas	Pancrea
19	chr3:142841000-142843600	Weak transcription	HSMM	muscle
20	chr3:142841000-142843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:142841200-142843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:142841200-142843600	Weak transcription	Brain Angular Gyrus	brain
24	chr3:142841200-142843600	Weak transcription	Gastric	stomach
25	chr3:142841200-142843800	Weak transcription	Lung	lung
26	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
29	chr3:142841400-142843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:142841400-142844600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr3:142841400-142844600	Active TSS	Fetal Brain Male	brain
32	chr3:142841600-142843600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:142841800-142844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:142842000-142843400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:142842000-142843400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:142842000-142843400	Active TSS	Thymus	Thymus
37	chr3:142842000-142843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:142842200-142844200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:142842400-142843400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:142842400-142843400	Weak transcription	Brain Anterior Caudate	brain
41	chr3:142842400-142843600	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:142842400-142843600	Active TSS	Fetal Thymus	thymus
43	chr3:142842400-142843600	Active TSS	K562	blood
44	chr3:142842600-142843400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:142842600-142843400	Active TSS	Fetal Brain Female	brain
46	chr3:142842600-142843400	Weak transcription	NHLF	lung
47	chr3:142842800-142843200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:142842800-142843200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:142842800-142843400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:142842800-142843400	Active TSS	HUES6 Cell Line	embryonic stem cell

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