Variant report

Variant	rs73005387
Chromosome Location	chr3:142722227-142722228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:142718446-142722255	K562	blood:	n/a	n/a
2	POLR2A	chr3:142722144-142722258	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:142296202..142300183-chr3:142719946..142722583,4	K562	blood:
2	chr3:142605846..142608751-chr3:142718093..142722238,5	K562	blood:
3	chr3:142295888..142299099-chr3:142720440..142723490,3	K562	blood:
4	chr3:142719011..142720863-chr3:142722062..142723581,2	MCF-7	breast:
5	chr3:142442669..142444351-chr3:142720029..142722522,2	MCF-7	breast:
6	chr3:142647858..142649587-chr3:142722010..142723590,2	K562	blood:
7	chr3:142295918..142298932-chr3:142719049..142722504,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268129	TF binding region
ENSG00000175054	Chromatin interaction
ENSG00000144935	Chromatin interaction
ENSG00000242390	Chromatin interaction
ENSG00000268129	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000163710	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3732742	1.00[AMR][1000 genomes]
rs6762672	1.00[EUR][1000 genomes]
rs6771773	1.00[EUR][1000 genomes]
rs6782209	1.00[AMR][1000 genomes]
rs72990829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993783	1.00[AMR][1000 genomes]
rs72994549	1.00[AMR][1000 genomes]
rs72999509	1.00[AMR][1000 genomes]
rs72999535	1.00[AMR][1000 genomes]
rs73003356	1.00[AMR][1000 genomes]
rs73003379	1.00[AMR][1000 genomes]
rs7627274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142718200-142725000	Active TSS	K562	blood
2	chr3:142718400-142722400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:142718800-142722400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr3:142718800-142722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:142718800-142722400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:142718800-142723000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:142719000-142722800	Active TSS	A549	lung
8	chr3:142719200-142723400	Active TSS	GM12878-XiMat	blood
9	chr3:142719400-142722400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr3:142719400-142722400	Active TSS	NHEK	skin
11	chr3:142719600-142722400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:142719600-142722400	Active TSS	HMEC	breast
13	chr3:142720000-142722400	Active TSS	Fetal Thymus	thymus
14	chr3:142721000-142722400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr3:142721200-142722400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:142721200-142722400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr3:142721200-142722400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr3:142721200-142723200	Active TSS	HepG2	liver
19	chr3:142721200-142727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:142721400-142722600	Flanking Active TSS	Dnd41	blood
21	chr3:142721400-142735800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:142721600-142722400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:142721600-142722600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:142721600-142725200	Weak transcription	Spleen	Spleen
25	chr3:142721600-142727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:142721600-142728200	Weak transcription	Pancreas	Pancrea
27	chr3:142721600-142739400	Weak transcription	Lung	lung
28	chr3:142721800-142722400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:142721800-142722400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:142721800-142722400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:142721800-142722400	Enhancers	Stomach Mucosa	stomach
32	chr3:142721800-142722600	Weak transcription	Esophagus	oesophagus
33	chr3:142721800-142723000	Enhancers	Rectal Smooth Muscle	rectum
34	chr3:142721800-142723400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:142721800-142724200	Enhancers	Fetal Brain Male	brain
36	chr3:142721800-142724800	Weak transcription	Right Atrium	heart
37	chr3:142721800-142727600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:142721800-142727600	Weak transcription	Left Ventricle	heart
39	chr3:142721800-142728200	Weak transcription	Gastric	stomach
40	chr3:142721800-142730800	Weak transcription	Placenta	Placenta
41	chr3:142721800-142734800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr3:142721800-142736400	Weak transcription	Ovary	ovary
43	chr3:142721800-142739200	Weak transcription	Colonic Mucosa	Colon
44	chr3:142721800-142761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:142722000-142722400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr3:142722000-142722400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr3:142722000-142722400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:142722000-142722400	Enhancers	Adipose Nuclei	Adipose
49	chr3:142722000-142722400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr3:142722000-142722400	Enhancers	Fetal Lung	lung

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