Variant report

Variant	rs9358787
Chromosome Location	chr6:24662584-24662585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:24662343-24662820	Hela-S3	cervix:	n/a	n/a
2	NR3C1	chr6:24662064-24662707	A549	lung:	n/a	n/a
3	POLR2A	chr6:24662292-24665727	K562	blood:	n/a	n/a
4	POLR2A	chr6:24662079-24663965	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:24662438-24662954	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:24662112-24662624	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:24660461-24664492	A549	lung:	n/a	n/a
8	POLR2A	chr6:24662517-24662770	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:24662237-24662612	K562	blood:	n/a	n/a
10	POLR2A	chr6:24662303-24662772	K562	blood:	n/a	n/a
11	RXRA	chr6:24662427-24662852	HepG2	liver:	n/a	n/a
12	HEY1	chr6:24662068-24662889	HepG2	liver:	n/a	n/a
13	NR3C1	chr6:24662123-24662803	A549	lung:	n/a	n/a
14	POLR2A	chr6:24662530-24662843	HepG2	liver:	n/a	n/a
15	SP1	chr6:24661981-24662891	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24645025..24646837-chr6:24661272..24665022,3	MCF-7	breast:
2	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
3	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:

No data

Variant related genes	Relation type
ACOT13	TF binding region
TDP2	TF binding region
ENSG00000137261	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16889592	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16901739	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17249687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883591	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2056998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073013	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294691	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328847	0.87[ASN][1000 genomes]
rs2876679	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3181230	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3181233	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3181235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3181236	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3181237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212229	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3212234	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3212235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60707509	0.82[ASN][1000 genomes]
rs7765052	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9358786	0.87[ASN][1000 genomes]
rs9366579	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9379679	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9379682	0.96[ASN][1000 genomes]
rs9393575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461050	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9467251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467253	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9467257	0.81[AMR][1000 genomes];0.96[ASN][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	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
2	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:24647000-24662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
5	chr6:24647200-24663400	Weak transcription	Fetal Kidney	kidney
6	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:24650000-24663600	Strong transcription	Dnd41	blood
9	chr6:24650000-24665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:24652400-24662800	Weak transcription	Psoas Muscle	Psoas
11	chr6:24653400-24662600	Weak transcription	NHLF	lung
12	chr6:24653800-24662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:24653800-24663800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:24653800-24666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:24654000-24662600	Weak transcription	HSMMtube	muscle
16	chr6:24654000-24663200	Weak transcription	Fetal Brain Male	brain
17	chr6:24654000-24665200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:24654200-24663400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:24654200-24664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:24654200-24665000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:24654200-24665000	Weak transcription	Fetal Lung	lung
22	chr6:24654400-24663200	Weak transcription	Brain Angular Gyrus	brain
23	chr6:24654400-24665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:24655000-24662600	Weak transcription	Liver	Liver
25	chr6:24655400-24665000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:24656000-24662600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:24656000-24662800	Weak transcription	Pancreas	Pancrea
28	chr6:24656000-24663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:24656000-24663600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:24656000-24663800	Strong transcription	Fetal Thymus	thymus
31	chr6:24656200-24662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:24656200-24663000	Weak transcription	Gastric	stomach
33	chr6:24656200-24663400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:24656200-24663400	Weak transcription	HMEC	breast
35	chr6:24656200-24665000	Weak transcription	Fetal Heart	heart
36	chr6:24656200-24666000	Weak transcription	Aorta	Aorta
37	chr6:24656400-24662800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:24657400-24665400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:24657600-24662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:24658400-24663800	Strong transcription	HUVEC	blood vessel
41	chr6:24658400-24664400	Strong transcription	Primary B cells from cord blood	blood
42	chr6:24658400-24665600	Strong transcription	HSMM	muscle
43	chr6:24659000-24662800	Weak transcription	NHEK	skin
44	chr6:24659000-24665000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:24659200-24663400	Genic enhancers	HepG2	liver
46	chr6:24659400-24663200	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:24659400-24663200	Weak transcription	NH-A	brain
48	chr6:24659600-24662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:24660000-24664400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:24660000-24665400	Weak transcription	NHDF-Ad	bronchial

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