Variant report

Variant	rs2704429
Chromosome Location	chr4:48131945-48131946
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1396049	0.83[AMR][1000 genomes]
rs16860943	1.00[AMR][1000 genomes]
rs16861067	1.00[AMR][1000 genomes]
rs1979972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2089508	1.00[AMR][1000 genomes]
rs2135957	0.83[AMR][1000 genomes]
rs2251240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352590	0.83[AMR][1000 genomes]
rs2352591	0.83[AMR][1000 genomes]
rs2456926	0.83[AMR][1000 genomes]
rs2464500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464501	0.83[AMR][1000 genomes]
rs2464506	0.83[AMR][1000 genomes]
rs2661526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2661527	1.00[AMR][1000 genomes]
rs2661531	1.00[AMR][1000 genomes]
rs2661534	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704397	1.00[AMR][1000 genomes]
rs2704398	1.00[AMR][1000 genomes]
rs2704427	1.00[AMR][1000 genomes]
rs2704428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2940329	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34386002	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857073	0.83[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs60470389	1.00[AMR][1000 genomes]
rs6858033	0.83[AMR][1000 genomes]
rs7692882	0.86[AFR][1000 genomes];1.00[AMR][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:92 , 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	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:48129200-48132000	Enhancers	GM12878-XiMat	blood
6	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
7	chr4:48129400-48132200	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
9	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
10	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:48130200-48132000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:48130200-48132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:48130200-48132000	Enhancers	NHDF-Ad	bronchial
14	chr4:48130200-48132200	Enhancers	HSMM	muscle
15	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
17	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
18	chr4:48130400-48132000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:48130400-48132000	Enhancers	HMEC	breast
20	chr4:48130400-48132000	Enhancers	HUVEC	blood vessel
21	chr4:48130400-48132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
25	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
32	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
35	chr4:48130600-48132000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:48130600-48132000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:48130600-48132600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:48130600-48132800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:48130600-48137000	Weak transcription	Liver	Liver
42	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:48130800-48132000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:48131000-48132400	Enhancers	HSMMtube	muscle
47	chr4:48131000-48132600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:48131000-48133200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood

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