Variant report

Variant	rs764223
Chromosome Location	chr10:99191935-99191936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99160927..99162886-chr10:99190238..99192558,2	K562	blood:
2	chr10:99191825..99193525-chr10:99195250..99196824,2	K562	blood:
3	chr10:99188867..99192186-chr10:99193906..99196769,3	MCF-7	breast:
4	chr10:99190546..99193434-chr10:99194147..99197999,4	K562	blood:
5	chr10:99148085..99150519-chr10:99189341..99192060,3	K562	blood:
6	chr10:99183719..99185811-chr10:99191759..99194746,2	K562	blood:
7	chr10:99190230..99197642-chr10:99200865..99207415,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171311	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10882905	1.00[YRI][hapmap]
rs12569570	0.94[AFR][1000 genomes]
rs17415112	1.00[MKK][hapmap]
rs2297666	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4304701	0.91[CHB][hapmap]
rs4919096	1.00[YRI][hapmap]
rs7081796	0.86[CHB][hapmap]
rs7090847	0.83[ASN][1000 genomes]
rs928603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv948158	chr10:99189320-99193095	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs764223	RRP12	cis	cerebellum	SCAN
rs764223	MMS19	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99188600-99192200	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr10:99188600-99192200	Strong transcription	Brain Anterior Caudate	brain
3	chr10:99188600-99192200	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:99188600-99195000	Weak transcription	Fetal Brain Male	brain
5	chr10:99188600-99197200	Strong transcription	HSMM	muscle
6	chr10:99188600-99200600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:99188600-99201400	Strong transcription	Left Ventricle	heart
8	chr10:99188600-99203200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:99188600-99203200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr10:99188600-99203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:99188600-99203200	Strong transcription	Fetal Muscle Leg	muscle
12	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
15	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
17	chr10:99188800-99192000	Strong transcription	NHEK	skin
18	chr10:99188800-99192200	Strong transcription	Fetal Intestine Small	intestine
19	chr10:99188800-99192400	Strong transcription	Primary hematopoietic stem cells	blood
20	chr10:99188800-99195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:99188800-99197000	Strong transcription	HUVEC	blood vessel
22	chr10:99188800-99199200	Strong transcription	Colon Smooth Muscle	Colon
23	chr10:99188800-99199600	Strong transcription	A549	lung
24	chr10:99188800-99200600	Weak transcription	Stomach Mucosa	stomach
25	chr10:99188800-99203000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr10:99188800-99203200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:99188800-99203200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:99188800-99203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:99188800-99203200	Strong transcription	Fetal Intestine Large	intestine
30	chr10:99188800-99203200	Strong transcription	Fetal Stomach	stomach
31	chr10:99188800-99203200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr10:99188800-99203200	Strong transcription	NH-A	brain
33	chr10:99188800-99203400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:99188800-99203400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:99188800-99203800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:99188800-99204000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:99188800-99204200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:99188800-99204200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:99188800-99205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr10:99189000-99192200	Strong transcription	Osteobl	bone
41	chr10:99189000-99192400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:99189000-99201000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:99189000-99203800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:99189200-99192200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr10:99189200-99192200	Strong transcription	HSMMtube	muscle
46	chr10:99189200-99192400	Strong transcription	Fetal Kidney	kidney
47	chr10:99189200-99193400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:99189200-99195000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:99189200-99199200	Strong transcription	Brain Hippocampus Middle	brain
50	chr10:99189200-99199600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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