Variant report

Variant	rs61791983
Chromosome Location	chr4:22407912-22407913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22407422..22409065-chr4:22411450..22413901,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12331257	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434988	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1392595	1.00[EUR][1000 genomes]
rs16872604	1.00[ASN][1000 genomes]
rs2169606	1.00[EUR][1000 genomes]
rs61736467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791977	1.00[ASN][1000 genomes]
rs61791978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791987	1.00[EUR][1000 genomes]
rs61791988	1.00[EUR][1000 genomes]
rs61796260	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664449	1.00[EUR][1000 genomes]
rs7669616	1.00[EUR][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	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv967961	chr4:22406001-22412629	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:22382600-22409600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:22383200-22438000	Weak transcription	Lung	lung
5	chr4:22383600-22442800	Weak transcription	A549	lung
6	chr4:22384200-22413000	Weak transcription	Fetal Heart	heart
7	chr4:22385400-22430400	Weak transcription	Psoas Muscle	Psoas
8	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
9	chr4:22388000-22411400	Weak transcription	NHDF-Ad	bronchial
10	chr4:22388000-22416600	Weak transcription	NHLF	lung
11	chr4:22388200-22432400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:22388400-22417800	Weak transcription	HUVEC	blood vessel
14	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
16	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
17	chr4:22390200-22414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:22390600-22423600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:22390600-22439600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:22390800-22418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:22390800-22420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:22390800-22421400	Weak transcription	HepG2	liver
25	chr4:22390800-22429400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:22391400-22415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:22393000-22435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:22393800-22418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:22393800-22446400	Weak transcription	NH-A	brain
32	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:22397000-22428400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:22397200-22409000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:22397400-22408600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:22397800-22411600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:22397800-22412200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:22398400-22411800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:22398400-22423200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:22399000-22408000	Strong transcription	Fetal Lung	lung
41	chr4:22399000-22409000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:22399000-22416800	Strong transcription	Liver	Liver
43	chr4:22399800-22442800	Weak transcription	Fetal Brain Female	brain
44	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
45	chr4:22400600-22419800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:22400800-22422000	Weak transcription	HSMMtube	muscle
47	chr4:22400800-22429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:22400800-22430000	Weak transcription	Adipose Nuclei	Adipose
49	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:22400800-22461800	Weak transcription	Gastric	stomach

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