Variant report

Variant	rs4683144
Chromosome Location	chr3:45864256-45864257
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	chr3:45863759..45865356-chr3:45865550..45869231,3	K562	blood:
2	chr3:45862583..45864732-chr3:45872437..45875111,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2191032	0.90[EUR][1000 genomes]
rs2673059	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742361	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2742362	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4683142	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4683145	0.86[EUR][1000 genomes]
rs9843446	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9856760	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv3796	chr3:45850961-45886045	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45847800-45871400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:45848000-45864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:45849400-45864800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:45849400-45875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45849800-45871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:45850200-45866200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:45850200-45867800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:45850600-45868200	Weak transcription	Spleen	Spleen
9	chr3:45857800-45871600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:45858000-45882600	Weak transcription	A549	lung
11	chr3:45858400-45866000	Weak transcription	Fetal Brain Male	brain
12	chr3:45858400-45868400	Weak transcription	Fetal Kidney	kidney
13	chr3:45858400-45881200	Strong transcription	Dnd41	blood
14	chr3:45859400-45865000	Strong transcription	Brain Germinal Matrix	brain
15	chr3:45859400-45866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:45859400-45868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:45859600-45866000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:45859800-45871400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:45860000-45864800	Strong transcription	Fetal Stomach	stomach
20	chr3:45860000-45880000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:45860000-45882400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:45860200-45867600	Weak transcription	GM12878-XiMat	blood
23	chr3:45860400-45864400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:45860400-45864800	Strong transcription	Thymus	Thymus
25	chr3:45860400-45867800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:45860400-45868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:45860400-45868200	Strong transcription	Fetal Thymus	thymus
28	chr3:45860400-45868200	Weak transcription	Pancreas	Pancrea
29	chr3:45860400-45871600	Weak transcription	Esophagus	oesophagus
30	chr3:45860400-45871800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:45860400-45871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:45860400-45875800	Weak transcription	Placenta	Placenta
33	chr3:45860400-45877400	Strong transcription	Liver	Liver
34	chr3:45860600-45865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:45860600-45865800	Weak transcription	Osteobl	bone
36	chr3:45860600-45866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:45860600-45874400	Weak transcription	HUVEC	blood vessel
38	chr3:45860800-45866000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:45860800-45867200	Strong transcription	Primary T cells from cord blood	blood
40	chr3:45860800-45868400	Weak transcription	Gastric	stomach
41	chr3:45860800-45875200	Weak transcription	Aorta	Aorta
42	chr3:45861000-45882400	Weak transcription	Small Intestine	intestine
43	chr3:45861000-45882400	Weak transcription	NHDF-Ad	bronchial
44	chr3:45861000-45882600	Weak transcription	Stomach Mucosa	stomach
45	chr3:45861000-45882600	Weak transcription	Hela-S3	cervix
46	chr3:45861200-45866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:45861200-45868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:45861200-45879600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:45861200-45882400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:45861200-45882600	Weak transcription	Right Ventricle	heart

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