Variant report

Variant	rs73848903
Chromosome Location	chr4:130012044-130012045
allele	G/T
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	POLR2A	chr4:130011739-130015326	IMR90	lung:	n/a	n/a
2	WRNIP1	chr4:130011880-130012416	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129731737..129733753-chr4:130010586..130013239,2	MCF-7	breast:
2	chr4:129993871..129996634-chr4:130011774..130013975,2	K562	blood:
3	chr4:130011776..130014103-chr4:130019273..130020805,2	K562	blood:
4	chr4:130003975..130008687-chr4:130008780..130012075,4	K562	blood:

Variant related genes	Relation type
C4orf33	TF binding region
ENSG00000077684	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55800030	0.87[AFR][1000 genomes]
rs56107587	0.87[AFR][1000 genomes]
rs56219732	0.87[AFR][1000 genomes]
rs57959838	0.87[AFR][1000 genomes]
rs58757062	0.87[AFR][1000 genomes]
rs73847376	0.87[AFR][1000 genomes]
rs73847377	0.87[AFR][1000 genomes]
rs73847388	0.87[AFR][1000 genomes]
rs73847393	0.87[AFR][1000 genomes]
rs73847396	0.87[AFR][1000 genomes]
rs73848904	1.00[AFR][1000 genomes]
rs73848905	1.00[AFR][1000 genomes]
rs73848912	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129985200-130012200	Weak transcription	HSMM	muscle
2	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:129999200-130012600	Weak transcription	NH-A	brain
5	chr4:130000400-130013000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:130001400-130013000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:130001800-130013000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:130002000-130012600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:130002000-130013200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:130002200-130013400	Weak transcription	Placenta	Placenta
11	chr4:130002600-130012200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:130002800-130012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:130002800-130013000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:130002800-130013000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:130002800-130013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:130002800-130013000	Weak transcription	Gastric	stomach
17	chr4:130002800-130013000	Weak transcription	Pancreas	Pancrea
18	chr4:130002800-130013000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:130002800-130013000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:130002800-130013200	Weak transcription	Aorta	Aorta
21	chr4:130002800-130013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:130002800-130013800	Weak transcription	Ovary	ovary
23	chr4:130003000-130012200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:130003000-130012200	Weak transcription	Fetal Stomach	stomach
25	chr4:130003000-130012200	Weak transcription	Osteobl	bone
26	chr4:130003000-130012600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:130003000-130012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:130003000-130012600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:130003000-130012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:130003000-130012800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:130003000-130013000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:130003000-130013200	Weak transcription	Esophagus	oesophagus
33	chr4:130003600-130012200	Weak transcription	Fetal Thymus	thymus
34	chr4:130005000-130012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:130006800-130012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:130007000-130012200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:130007000-130012400	Weak transcription	Fetal Lung	lung
38	chr4:130007000-130013000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:130007000-130013000	Weak transcription	Fetal Kidney	kidney
40	chr4:130007000-130013000	Weak transcription	Left Ventricle	heart
41	chr4:130007200-130012200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:130009600-130012600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:130009600-130013200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:130010000-130012600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:130010800-130013000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:130011000-130013600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:130011200-130012200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:130011200-130012600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:130011200-130013200	Enhancers	Fetal Heart	heart
50	chr4:130011200-130013800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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