Variant report

Variant	rs10991903
Chromosome Location	chr9:94121953-94121954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94118243..94121111-chr9:94121420..94123747,2	MCF-7	breast:
2	chr9:93959750..93961882-chr9:94121877..94124140,2	K562	blood:
3	chr9:94121700..94124113-chr9:94130067..94131901,2	K562	blood:
4	chr9:94112282..94113941-chr9:94121360..94122984,2	K562	blood:
5	chr9:94104145..94106983-chr9:94120665..94122259,2	K562	blood:
6	chr9:94120989..94122585-chr9:94173872..94176280,2	K562	blood:
7	chr9:94120744..94125236-chr9:94184262..94187726,6	K562	blood:
8	chr9:94103409..94105645-chr9:94120684..94122259,2	K562	blood:
9	chr9:93954102..93956914-chr9:94120904..94123589,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165030	Chromatin interaction
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1022141	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512209	1.00[AFR][1000 genomes]
rs10991842	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991844	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991845	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991846	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991847	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991852	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991854	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991856	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991857	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991863	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991867	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991868	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991871	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991874	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10991876	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991879	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10991883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991893	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10991895	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238387	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16907250	1.00[AFR][1000 genomes]
rs16907269	0.84[ASN][1000 genomes]
rs16907273	0.84[ASN][1000 genomes]
rs16907280	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16907293	1.00[AFR][1000 genomes]
rs16907311	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16907384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281922	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2292365	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811122	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811124	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851540	1.00[AFR][1000 genomes]
rs4430195	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4537426	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7868771	0.82[EUR][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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:94101000-94122400	Weak transcription	HUVEC	blood vessel
3	chr9:94102000-94122400	Weak transcription	HMEC	breast
4	chr9:94104400-94122800	Weak transcription	Colonic Mucosa	Colon
5	chr9:94104600-94122000	Weak transcription	Gastric	stomach
6	chr9:94104800-94122000	Weak transcription	Spleen	Spleen
7	chr9:94104800-94122400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:94104800-94122400	Weak transcription	NHLF	lung
9	chr9:94104800-94122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:94104800-94122600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:94104800-94122600	Weak transcription	HSMMtube	muscle
12	chr9:94104800-94123600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:94105200-94122600	Weak transcription	Osteobl	bone
14	chr9:94105200-94122800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:94105400-94122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:94105600-94123000	Weak transcription	Placenta	Placenta
17	chr9:94106400-94122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94108800-94122000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:94109800-94122600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:94109800-94123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:94109800-94123000	Weak transcription	Esophagus	oesophagus
22	chr9:94110200-94122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:94111200-94122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:94112800-94122200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:94113600-94122600	Weak transcription	NH-A	brain
26	chr9:94114000-94122600	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:94114200-94122400	Weak transcription	Fetal Kidney	kidney
28	chr9:94114200-94122400	Weak transcription	A549	lung
29	chr9:94114200-94122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:94114200-94122800	Weak transcription	Aorta	Aorta
31	chr9:94114400-94122000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:94114400-94122000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:94114400-94122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:94114600-94122000	Weak transcription	Right Ventricle	heart
35	chr9:94114600-94122400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:94114600-94122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:94114600-94122800	Weak transcription	Left Ventricle	heart
38	chr9:94114600-94123000	Weak transcription	Lung	lung
39	chr9:94114800-94122000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:94115000-94122400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:94115200-94122400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:94115800-94123000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:94116400-94122400	Weak transcription	Fetal Stomach	stomach
44	chr9:94116400-94122600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:94117400-94122000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:94117400-94122000	Weak transcription	Brain Germinal Matrix	brain
47	chr9:94117400-94122000	Weak transcription	Hela-S3	cervix
48	chr9:94117400-94122400	Weak transcription	HSMM	muscle
49	chr9:94117600-94122400	Weak transcription	NHDF-Ad	bronchial
50	chr9:94117600-94122800	Weak transcription	Fetal Thymus	thymus

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