Variant report

Variant	rs10993390
Chromosome Location	chr9:97671896-97671897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97580281..97582910-chr9:97669782..97672711,3	MCF-7	breast:
2	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
3	chr9:97621787..97623596-chr9:97671086..97673869,2	MCF-7	breast:
4	chr9:97670511..97672510-chr9:97682637..97684241,2	K562	blood:
5	chr9:97666485..97669668-chr9:97669881..97673620,4	MCF-7	breast:
6	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
7	chr9:97670509..97672235-chr9:97673084..97674732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230815	Chromatin interaction
ENSG00000148120	Chromatin interaction
ENSG00000252153	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10217737	1.00[AFR][1000 genomes]
rs10821433	1.00[CEU][hapmap]
rs10993350	1.00[AFR][1000 genomes]
rs10993374	1.00[AFR][1000 genomes]
rs10993381	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10993391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993456	1.00[CEU][hapmap]
rs12337251	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12338668	0.88[EUR][1000 genomes]
rs12339541	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12339639	1.00[CEU][hapmap]
rs12340107	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12342610	1.00[AFR][1000 genomes]
rs12344052	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12346261	1.00[CEU][hapmap]
rs12349263	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17356014	1.00[AFR][1000 genomes]
rs17679141	1.00[JPT][hapmap]
rs1889241	1.00[JPT][hapmap]
rs34032583	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4744443	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:97662400-97678600	Enhancers	Brain Substantia Nigra	brain
4	chr9:97662600-97680400	Enhancers	Brain Hippocampus Middle	brain
5	chr9:97664800-97672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:97664800-97672200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:97664800-97673400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:97664800-97673400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:97664800-97674200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:97665200-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:97665400-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:97666000-97672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:97666000-97678600	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:97666600-97674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:97667400-97674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:97667800-97675200	Enhancers	Brain Anterior Caudate	brain
17	chr9:97668000-97672800	Weak transcription	Brain Germinal Matrix	brain
18	chr9:97668800-97672000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:97669000-97673000	Enhancers	Stomach Mucosa	stomach
20	chr9:97669000-97673600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:97669000-97675200	Enhancers	Fetal Lung	lung
22	chr9:97669000-97678200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:97669200-97672400	Weak transcription	Spleen	Spleen
24	chr9:97669200-97678400	Enhancers	Fetal Heart	heart
25	chr9:97669600-97673000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:97669800-97678200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:97670000-97672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:97670000-97672000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:97670000-97672400	Weak transcription	Gastric	stomach
30	chr9:97670000-97678600	Weak transcription	Fetal Thymus	thymus
31	chr9:97670200-97672200	Enhancers	NH-A	brain
32	chr9:97670200-97674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:97670400-97672600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:97670400-97674800	Weak transcription	HUVEC	blood vessel
35	chr9:97670600-97672400	Weak transcription	Lung	lung
36	chr9:97670600-97674600	Weak transcription	Left Ventricle	heart
37	chr9:97670600-97676400	Weak transcription	Right Ventricle	heart
38	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:97670800-97672800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:97670800-97672800	Weak transcription	NHLF	lung
41	chr9:97670800-97674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:97670800-97674200	Weak transcription	Placenta	Placenta
43	chr9:97670800-97674400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:97670800-97674600	Weak transcription	Psoas Muscle	Psoas
45	chr9:97670800-97675000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:97670800-97675800	Weak transcription	Fetal Intestine Large	intestine
47	chr9:97670800-97676000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:97670800-97676600	Weak transcription	Right Atrium	heart
49	chr9:97670800-97680600	Weak transcription	Ovary	ovary
50	chr9:97671000-97672200	Weak transcription	Fetal Stomach	stomach

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