Variant report

Variant	rs4683605
Chromosome Location	chr3:141094769-141094770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141091576..141094274-chr3:141094633..141096791,2	K562	blood:
2	chr3:141083461..141090540-chr3:141091667..141099186,10	MCF-7	breast:
3	chr3:141091576..141094274-chr3:141094633..141097047,3	K562	blood:
4	chr3:141094353..141097160-chr3:141097220..141100154,2	K562	blood:
5	chr3:141086830..141090672-chr3:141094388..141099553,7	K562	blood:
6	chr3:141085458..141090258-chr3:141094745..141101789,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13068733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13077048	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1344672	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1344674	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1582874	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1991431	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2871960	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4683606	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6440003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6440006	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6763927	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6763931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6764769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6785012	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6808936	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs724016	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7624084	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7625643	0.84[EUR][1000 genomes]
rs7632381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7650602	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9846396	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9853018	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141087000-141107800	Weak transcription	Pancreas	Pancrea
2	chr3:141088000-141102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:141088000-141105200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:141088200-141095000	Weak transcription	Colonic Mucosa	Colon
5	chr3:141088200-141101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:141088200-141102400	Weak transcription	Fetal Kidney	kidney
7	chr3:141088400-141102400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:141088400-141107600	Weak transcription	Small Intestine	intestine
9	chr3:141089200-141095000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:141089200-141095200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:141089200-141096200	Weak transcription	Fetal Lung	lung
12	chr3:141089200-141097600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:141089200-141097600	Weak transcription	Adipose Nuclei	Adipose
14	chr3:141089200-141098800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:141089200-141099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:141089200-141101800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:141089200-141101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:141089200-141104800	Strong transcription	Fetal Intestine Large	intestine
19	chr3:141089200-141115800	Weak transcription	Psoas Muscle	Psoas
20	chr3:141089400-141102200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:141089400-141104200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:141089600-141094800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:141089600-141096000	Genic enhancers	A549	lung
24	chr3:141089600-141099000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:141089600-141102400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:141089600-141102400	Weak transcription	Fetal Brain Male	brain
27	chr3:141089600-141102400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:141089600-141105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:141089800-141097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:141089800-141097800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:141089800-141099200	Weak transcription	Brain Anterior Caudate	brain
32	chr3:141089800-141099800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:141089800-141102600	Strong transcription	Fetal Intestine Small	intestine
34	chr3:141091000-141107200	Weak transcription	Liver	Liver
35	chr3:141091400-141095200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:141091400-141095200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:141091600-141095200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:141091600-141095400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:141092000-141099000	Weak transcription	Brain Substantia Nigra	brain
40	chr3:141092000-141105600	Weak transcription	Gastric	stomach
41	chr3:141092200-141102400	Strong transcription	HSMM	muscle
42	chr3:141092400-141099600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:141092400-141099800	Weak transcription	Right Atrium	heart
44	chr3:141092600-141094800	Weak transcription	Fetal Heart	heart
45	chr3:141092600-141094800	Enhancers	GM12878-XiMat	blood
46	chr3:141092600-141098400	Strong transcription	HepG2	liver
47	chr3:141092800-141102400	Weak transcription	Hela-S3	cervix
48	chr3:141093200-141095200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:141093200-141095400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:141093200-141101800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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