Variant report

Variant	rs818868
Chromosome Location	chr9:7052283-7052284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7052132..7053116-chr9:7186335..7186921,2	K562	blood:
2	chr9:7051581..7054293-chr9:7055466..7057984,2	MCF-7	breast:
3	chr9:7046839..7049487-chr9:7050524..7052607,2	K562	blood:

Variant related genes	Relation type
ENSG00000107077	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1093702	0.81[AFR][1000 genomes]
rs1093704	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1175019	0.81[AFR][1000 genomes]
rs1340514	1.00[YRI][hapmap]
rs1417288	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2153502	0.81[AFR][1000 genomes]
rs2760652	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2760656	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2760662	1.00[YRI][hapmap]
rs2792228	1.00[YRI][hapmap]
rs2792239	0.81[AFR][1000 genomes]
rs2792243	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2792244	1.00[YRI][hapmap]
rs2821449	1.00[YRI][hapmap]
rs2821451	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs73403553	0.90[AFR][1000 genomes]
rs818867	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs818869	1.00[YRI][hapmap]
rs818872	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs818873	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs818874	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs818880	0.81[AFR][1000 genomes]
rs818885	0.81[AFR][1000 genomes]
rs818888	0.81[AFR][1000 genomes]
rs818896	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs818907	1.00[YRI][hapmap]
rs818910	1.00[YRI][hapmap]
rs843894	1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv892181	chr9:6680477-7070962	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831501	chr9:6868099-7058526	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892185	chr9:6929053-7070962	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870178	chr9:6941584-7060029	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv892186	chr9:6942605-7075305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024763	chr9:7022554-7061314	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv466117	chr9:7030268-7084558	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv613258	chr9:7030268-7084558	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7055200	Weak transcription	K562	blood
2	chr9:7009000-7056400	Weak transcription	Brain Substantia Nigra	brain
3	chr9:7009000-7076600	Weak transcription	HSMM	muscle
4	chr9:7009200-7077600	Weak transcription	Osteobl	bone
5	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
6	chr9:7012200-7052600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
8	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
9	chr9:7017800-7075000	Weak transcription	HepG2	liver
10	chr9:7018800-7064400	Weak transcription	Psoas Muscle	Psoas
11	chr9:7020000-7052800	Weak transcription	NHLF	lung
12	chr9:7028400-7052800	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
14	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
15	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
16	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
17	chr9:7029000-7052600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:7029000-7061400	Weak transcription	Fetal Intestine Small	intestine
19	chr9:7029000-7076400	Weak transcription	Ovary	ovary
20	chr9:7029000-7076600	Weak transcription	Lung	lung
21	chr9:7029000-7077400	Weak transcription	Gastric	stomach
22	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:7037200-7052800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:7042200-7056800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:7042800-7052400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:7043000-7069400	Weak transcription	NHDF-Ad	bronchial
28	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:7044400-7052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:7044400-7055600	Weak transcription	Hela-S3	cervix
31	chr9:7044800-7052600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr9:7045000-7059200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:7045200-7052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:7045400-7054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:7045400-7077000	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:7045400-7077000	Weak transcription	HMEC	breast
37	chr9:7045600-7055400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:7045800-7052800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:7046000-7052400	Weak transcription	Stomach Mucosa	stomach
40	chr9:7046000-7053400	Strong transcription	Primary B cells from cord blood	blood
41	chr9:7046200-7052800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:7046200-7053600	Strong transcription	Primary T cells from cord blood	blood
43	chr9:7046400-7052600	Strong transcription	Fetal Thymus	thymus
44	chr9:7046400-7053000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr9:7046400-7077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:7046600-7052800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:7046600-7052800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr9:7046800-7052400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:7046800-7055000	Weak transcription	Fetal Heart	heart
50	chr9:7047400-7055000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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