Variant report

Variant	rs58759314
Chromosome Location	chr6:36921686-36921687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr6:36921665-36922423	K562	blood:	n/a	n/a
2	TEAD4	chr6:36921622-36922652	K562	blood:	n/a	n/a
3	JUN	chr6:36921191-36922960	K562	blood:	n/a	n/a
4	TAL1	chr6:36921654-36922458	K562	blood:	n/a	chr6:36922177-36922195 chr6:36922176-36922184
5	GATA1	chr6:36921606-36922672	K562	blood:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191

Variant related genes	Relation type
PI16	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1626756	1.00[EUR][1000 genomes]
rs34895385	1.00[EUR][1000 genomes]
rs3997729	1.00[EUR][1000 genomes]
rs58181628	1.00[EUR][1000 genomes]
rs62406499	0.89[AFR][1000 genomes]
rs6910317	1.00[EUR][1000 genomes]
rs73422763	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73422769	1.00[EUR][1000 genomes]
rs73422776	1.00[EUR][1000 genomes]
rs73422781	1.00[EUR][1000 genomes]
rs7757632	1.00[EUR][1000 genomes]
rs7759063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv519499	chr6:36915906-36924102	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522653	chr6:36915906-36925774	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36898600-36922200	Weak transcription	Right Atrium	heart
2	chr6:36916000-36923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:36916200-36922600	Weak transcription	Brain Anterior Caudate	brain
4	chr6:36916200-36923000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:36916600-36921800	Weak transcription	Dnd41	blood
6	chr6:36917600-36922400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:36917600-36931200	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:36918000-36923000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:36918000-36924000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:36918200-36922800	Weak transcription	Hela-S3	cervix
11	chr6:36918200-36923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:36918200-36923000	Weak transcription	NHEK	skin
13	chr6:36918200-36923200	Weak transcription	NH-A	brain
14	chr6:36918200-36927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:36918200-36928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:36920600-36921800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:36920600-36922000	Enhancers	Primary B cells from cord blood	blood
18	chr6:36920800-36921800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:36920800-36922000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:36920800-36922000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:36920800-36922200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:36921000-36922200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:36921200-36921800	Enhancers	Primary T cells from cord blood	blood
24	chr6:36921200-36921800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:36921200-36922000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:36921400-36921800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:36921400-36921800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:36921400-36922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:36921400-36922200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:36921400-36922400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:36921400-36922800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:36921400-36923200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:36921400-36924000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:36921400-36924200	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:36921400-36924400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:36921400-36924400	Enhancers	Thymus	Thymus
37	chr6:36921400-36925000	Enhancers	Fetal Thymus	thymus
38	chr6:36921600-36921800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:36921600-36921800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:36921600-36922000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:36921600-36922200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:36921600-36922200	Enhancers	Spleen	Spleen
43	chr6:36921600-36922400	Enhancers	HUVEC	blood vessel
44	chr6:36921600-36923200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:36921600-36924400	Enhancers	Fetal Heart	heart
46	chr6:36921600-36925000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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