Variant report

Variant	rs10519775
Chromosome Location	chr4:147113426-147113427
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147113098..147115033-chr4:147118947..147121819,2	K562	blood:
2	chr4:147106019..147107613-chr4:147111595..147114491,2	K562	blood:
3	chr4:147111066..147113636-chr4:147115907..147120334,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-6L6.2.1-2	chr4:147111638-147114339	NONHSAT098666

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17021144	1.00[AMR][1000 genomes]
rs17021196	1.00[AMR][1000 genomes]
rs17021212	1.00[AFR][1000 genomes]
rs17021230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41463144	1.00[AMR][1000 genomes]
rs6847511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7662843	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
3	chr4:147098600-147113800	Weak transcription	Hela-S3	cervix
4	chr4:147101400-147114000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:147101400-147116200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:147102600-147113800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr4:147103600-147114000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:147103800-147113600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:147103800-147113600	Strong transcription	Primary B cells from cord blood	blood
10	chr4:147103800-147114000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:147103800-147114000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:147103800-147114200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:147103800-147117400	Strong transcription	Primary T cells from cord blood	blood
14	chr4:147104000-147113600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:147104200-147113800	Strong transcription	Fetal Thymus	thymus
16	chr4:147104200-147114200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:147104400-147113800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:147104400-147114000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:147104400-147114200	Strong transcription	Fetal Muscle Leg	muscle
20	chr4:147105000-147113800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:147105600-147113800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:147105800-147113800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:147107400-147114000	Strong transcription	HSMM	muscle
24	chr4:147107400-147114000	Strong transcription	Osteobl	bone
25	chr4:147107800-147113800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:147107800-147113800	Strong transcription	Thymus	Thymus
27	chr4:147107800-147114000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:147107800-147114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:147107800-147114000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:147108000-147113600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:147108000-147113800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:147108000-147114000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:147108000-147114200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:147109000-147114000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:147109000-147116800	Weak transcription	Brain Substantia Nigra	brain
36	chr4:147109000-147123000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:147109400-147114000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:147109800-147116800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:147109800-147126000	Weak transcription	Aorta	Aorta
40	chr4:147110000-147115400	Weak transcription	Fetal Kidney	kidney
41	chr4:147110000-147116600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:147110400-147115600	Weak transcription	Brain Angular Gyrus	brain
43	chr4:147110400-147116800	Weak transcription	Esophagus	oesophagus
44	chr4:147110800-147113800	Strong transcription	HMEC	breast
45	chr4:147111200-147114000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr4:147111200-147114000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr4:147111200-147114000	Strong transcription	Brain Hippocampus Middle	brain
48	chr4:147111400-147114000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:147111400-147114000	Enhancers	Fetal Heart	heart
50	chr4:147111400-147114000	Genic enhancers	Sigmoid Colon	Sigmoid Colon

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