Variant report

Variant	rs41463144
Chromosome Location	chr4:147101442-147101443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147100998..147102686-chr4:147106253..147108281,2	K562	blood:
2	chr4:147098952..147101592-chr4:147130358..147132148,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10519775	1.00[AMR][1000 genomes]
rs17021144	1.00[AMR][1000 genomes]
rs17021196	1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17021230	1.00[AMR][1000 genomes]
rs2244840	1.00[MEX][hapmap]
rs2679153	1.00[MEX][hapmap]
rs6847511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7662843	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664522	1.00[AMR][1000 genomes]
rs7667848	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7683036	1.00[AMR][1000 genomes]
rs7694557	0.89[AFR][1000 genomes];1.00[AMR][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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147097600-147108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:147097800-147104200	Weak transcription	Placenta	Placenta
3	chr4:147097800-147104600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:147097800-147108600	Weak transcription	HSMMtube	muscle
5	chr4:147097800-147108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:147097800-147108800	Weak transcription	Esophagus	oesophagus
7	chr4:147097800-147111000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:147098000-147102200	Enhancers	Fetal Heart	heart
10	chr4:147098000-147102800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:147098200-147102000	Enhancers	Brain Hippocampus Middle	brain
12	chr4:147098400-147101600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:147098400-147101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:147098400-147102000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:147098400-147102200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:147098400-147102400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:147098400-147102600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:147098400-147103200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:147098400-147103600	Weak transcription	A549	lung
20	chr4:147098400-147104200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:147098400-147104400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:147098400-147107400	Weak transcription	HSMM	muscle
23	chr4:147098400-147107800	Weak transcription	Fetal Kidney	kidney
24	chr4:147098400-147108000	Weak transcription	NH-A	brain
25	chr4:147098400-147108800	Weak transcription	NHLF	lung
26	chr4:147098400-147111400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
28	chr4:147098600-147102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:147098600-147103600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:147098600-147103600	Weak transcription	NHDF-Ad	bronchial
31	chr4:147098600-147103800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:147098600-147103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:147098600-147104000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:147098600-147104200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:147098600-147104200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:147098600-147104400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:147098600-147105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:147098600-147107800	Weak transcription	HMEC	breast
39	chr4:147098600-147113800	Weak transcription	Hela-S3	cervix
40	chr4:147099000-147104400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:147099000-147108400	Weak transcription	Aorta	Aorta
42	chr4:147099200-147101600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:147099200-147107400	Weak transcription	Osteobl	bone
44	chr4:147099200-147107600	Weak transcription	Brain Germinal Matrix	brain
45	chr4:147099400-147102200	Enhancers	Brain Angular Gyrus	brain
46	chr4:147099400-147104200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:147099400-147104200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:147099400-147107800	Weak transcription	Thymus	Thymus
49	chr4:147099400-147108000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:147099400-147108200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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