Variant report

Variant	rs55809586
Chromosome Location	chr4:48132189-48132190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10016563	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021919	0.89[EUR][1000 genomes]
rs10033663	0.99[EUR][1000 genomes]
rs12331972	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470892	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17470919	0.91[EUR][1000 genomes]
rs17471024	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574371	1.00[ASN][1000 genomes]
rs17574399	0.90[EUR][1000 genomes]
rs2456928	0.88[EUR][1000 genomes]
rs2661535	0.89[EUR][1000 genomes]
rs28521484	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28702422	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28740900	1.00[ASN][1000 genomes]
rs3749503	0.90[EUR][1000 genomes]
rs55683170	0.99[EUR][1000 genomes]
rs6814046	0.81[EUR][1000 genomes]
rs6814614	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6819804	0.98[EUR][1000 genomes]
rs6837324	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6845196	1.00[ASN][1000 genomes]
rs73244489	0.90[EUR][1000 genomes]
rs7654182	0.89[EUR][1000 genomes]
rs7654466	1.00[ASN][1000 genomes]
rs7682890	0.91[EUR][1000 genomes]
rs7684558	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955692	0.99[EUR][1000 genomes]
rs996222	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs996223	0.90[EUR][1000 genomes]
rs9991974	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
5	chr4:48129400-48132200	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
7	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
8	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:48130200-48132200	Enhancers	HSMM	muscle
10	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
13	chr4:48130400-48132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
17	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
24	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
25	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
27	chr4:48130600-48132600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:48130600-48132800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:48130600-48137000	Weak transcription	Liver	Liver
32	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:48131000-48132400	Enhancers	HSMMtube	muscle
36	chr4:48131000-48132600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:48131000-48133200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
41	chr4:48131400-48132200	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:48131400-48132200	Enhancers	Fetal Intestine Small	intestine
43	chr4:48131400-48132200	Enhancers	A549	lung
44	chr4:48131400-48133000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr4:48131400-48133200	Enhancers	Left Ventricle	heart
46	chr4:48131400-48133600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr4:48131600-48132200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr4:48131600-48132200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
49	chr4:48131600-48132200	Enhancers	Fetal Intestine Large	intestine
50	chr4:48131600-48132400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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