Variant report

Variant	rs73799038
Chromosome Location	chr4:6952430-6952431
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6910740..6913101-chr4:6952369..6954537,2	K562	blood:
2	chr4:6948005..6950003-chr4:6950357..6953103,2	K562	blood:
3	chr4:6944446..6947031-chr4:6951567..6953686,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57033890	1.00[AMR][1000 genomes]
rs59204906	1.00[EUR][1000 genomes]
rs59391324	1.00[EUR][1000 genomes]
rs73796376	1.00[AMR][1000 genomes]
rs73799034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73799050	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73799052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6943800-6955400	Weak transcription	Brain Substantia Nigra	brain
3	chr4:6944800-6955400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:6945000-6955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
6	chr4:6945200-6955600	Weak transcription	Fetal Brain Female	brain
7	chr4:6945400-6953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:6945400-6955400	Weak transcription	Fetal Stomach	stomach
9	chr4:6945600-6952800	Weak transcription	Esophagus	oesophagus
10	chr4:6945600-6952800	Weak transcription	K562	blood
11	chr4:6945600-6953000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:6945600-6953600	Weak transcription	GM12878-XiMat	blood
13	chr4:6945600-6955600	Weak transcription	Left Ventricle	heart
14	chr4:6945800-6953600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:6945800-6965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:6946000-6953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:6946400-6955400	Weak transcription	NHLF	lung
18	chr4:6946600-6953000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:6946600-6955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:6946600-6955400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:6946600-6955800	Weak transcription	Fetal Brain Male	brain
22	chr4:6946600-6969000	Weak transcription	Dnd41	blood
23	chr4:6946800-6952600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:6946800-6953600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:6946800-6953600	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:6946800-6953600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:6946800-6954000	Weak transcription	Primary B cells from cord blood	blood
28	chr4:6946800-6955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:6946800-6955400	Weak transcription	Stomach Mucosa	stomach
30	chr4:6946800-6955400	Weak transcription	NHDF-Ad	bronchial
31	chr4:6947000-6952800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:6947000-6952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:6947000-6953600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:6947000-6953600	Weak transcription	Fetal Thymus	thymus
35	chr4:6947000-6953600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:6947000-6953600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:6947000-6953800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:6947000-6953800	Weak transcription	Placenta	Placenta
39	chr4:6947000-6954000	Weak transcription	Spleen	Spleen
40	chr4:6947000-6955400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:6947000-6955600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:6947200-6953200	Weak transcription	Primary T cells from cord blood	blood
43	chr4:6947200-6953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:6947200-6953600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:6947200-6955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:6947800-6953200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:6947800-6953200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:6947800-6953400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:6947800-6953600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:6948000-6953400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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