Variant report

Variant	rs9619105
Chromosome Location	chr22:30790786-30790787
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30789284..30790892-chr22:30803634..30805213,2	MCF-7	breast:
3	chr22:30779604..30781335-chr22:30790630..30793179,2	MCF-7	breast:
4	chr22:30788497..30790917-chr22:30792227..30795810,3	MCF-7	breast:
5	chr22:30790188..30791872-chr22:30797485..30799463,2	K562	blood:

Variant related genes	Relation type
ENSG00000268538	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1005835	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1010324	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089447	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089448	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11089449	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11703385	0.81[EUR][1000 genomes]
rs11703867	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11705639	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12171261	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072160	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2074731	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2267154	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267155	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267156	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283866	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2283870	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283871	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299827	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2839998	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57940170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994294	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5994305	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5994306	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997637	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61583714	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71331235	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7288366	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7289360	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7290317	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8141656	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9619096	0.83[EUR][1000 genomes]
rs9619098	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
4	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
5	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
6	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
7	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
8	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
9	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
10	chr22:30783800-30793000	Weak transcription	Gastric	stomach
11	chr22:30787400-30792600	Enhancers	Liver	Liver
12	chr22:30787600-30792000	Weak transcription	HMEC	breast
13	chr22:30787600-30792200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30787600-30792400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:30787600-30792600	Enhancers	Fetal Thymus	thymus
16	chr22:30787800-30792200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30787800-30792400	Weak transcription	Brain Anterior Caudate	brain
18	chr22:30787800-30792400	Weak transcription	HSMM	muscle
19	chr22:30787800-30792400	Weak transcription	NHEK	skin
20	chr22:30787800-30792600	Weak transcription	Brain Angular Gyrus	brain
21	chr22:30787800-30792600	Weak transcription	Brain Substantia Nigra	brain
22	chr22:30787800-30792600	Weak transcription	HSMMtube	muscle
23	chr22:30787800-30792600	Weak transcription	HUVEC	blood vessel
24	chr22:30787800-30792600	Weak transcription	NHLF	lung
25	chr22:30787800-30792600	Weak transcription	Osteobl	bone
26	chr22:30788000-30792000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:30788000-30792400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30788000-30792400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:30788000-30792400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:30788000-30792600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30788000-30792600	Weak transcription	NH-A	brain
32	chr22:30789000-30790800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:30789000-30791800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr22:30789000-30792000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:30789000-30792000	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:30789200-30791200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:30789200-30791600	Weak transcription	Fetal Intestine Small	intestine
38	chr22:30789200-30792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:30789200-30792400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30789200-30792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:30789200-30792600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:30789200-30793600	Weak transcription	K562	blood
43	chr22:30789400-30791400	Weak transcription	Fetal Intestine Large	intestine
44	chr22:30789400-30792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:30789600-30791800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:30789600-30792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:30789600-30792200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:30789600-30792400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:30789600-30792400	Weak transcription	Thymus	Thymus
50	chr22:30789600-30792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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