Variant report

Variant	rs4378299
Chromosome Location	chr10:91111780-91111781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91105141..91107376-chr10:91111380..91113140,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10159512	1.00[ASN][1000 genomes]
rs10159652	1.00[ASN][1000 genomes]
rs10159694	1.00[ASN][1000 genomes]
rs10159869	1.00[ASN][1000 genomes]
rs10159879	1.00[ASN][1000 genomes]
rs1041540	1.00[ASW][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11203074	1.00[ASN][1000 genomes]
rs11203075	1.00[ASN][1000 genomes]
rs11203077	1.00[ASN][1000 genomes]
rs11203081	1.00[ASN][1000 genomes]
rs11203084	1.00[ASN][1000 genomes]
rs11203085	1.00[ASN][1000 genomes]
rs11203088	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11203097	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11203100	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12241343	1.00[ASN][1000 genomes]
rs12242568	1.00[ASN][1000 genomes]
rs12244571	1.00[ASN][1000 genomes]
rs12245627	1.00[ASN][1000 genomes]
rs12249661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12249707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12250753	1.00[ASN][1000 genomes]
rs12250860	1.00[ASN][1000 genomes]
rs12251895	1.00[ASN][1000 genomes]
rs12259713	1.00[ASN][1000 genomes]
rs12259768	1.00[ASN][1000 genomes]
rs12261273	1.00[ASN][1000 genomes]
rs12263989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12264051	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12266581	0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs12267943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12269110	0.81[AFR][1000 genomes]
rs1332332	1.00[ASN][1000 genomes]
rs1332333	1.00[ASN][1000 genomes]
rs1332336	1.00[ASN][1000 genomes]
rs1332337	1.00[ASN][1000 genomes]
rs17119593	1.00[ASN][1000 genomes]
rs17119665	1.00[ASN][1000 genomes]
rs17119672	1.00[ASN][1000 genomes]
rs17119790	1.00[ASN][1000 genomes]
rs17119791	1.00[ASN][1000 genomes]
rs2151008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41284140	1.00[ASN][1000 genomes]
rs41284142	1.00[ASN][1000 genomes]
rs6586186	1.00[ASN][1000 genomes]
rs6586189	1.00[ASN][1000 genomes]
rs6586190	1.00[ASN][1000 genomes]
rs6586191	0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs7081163	1.00[ASN][1000 genomes]
rs7088379	1.00[ASN][1000 genomes]
rs7091558	1.00[ASN][1000 genomes]
rs7099668	1.00[ASN][1000 genomes]
rs7099681	1.00[ASN][1000 genomes]
rs7100115	1.00[ASN][1000 genomes]
rs73367444	1.00[ASN][1000 genomes]
rs73367447	1.00[ASN][1000 genomes]
rs7898580	1.00[ASN][1000 genomes]
rs7901862	1.00[ASN][1000 genomes]
rs7902096	1.00[ASN][1000 genomes]
rs7902109	1.00[ASN][1000 genomes]
rs7904924	1.00[ASN][1000 genomes]
rs7907341	1.00[ASN][1000 genomes]
rs7911396	1.00[ASN][1000 genomes]
rs7913002	0.85[TSI][hapmap]
rs7916398	1.00[ASN][1000 genomes]
rs7917725	1.00[ASN][1000 genomes]
rs9663337	1.00[ASN][1000 genomes]
rs9663529	1.00[ASN][1000 genomes]
rs9663533	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4378299	GRK5	trans	brain	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
2	chr10:91105000-91112400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:91105600-91112400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr10:91105800-91113200	Enhancers	Fetal Intestine Large	intestine
5	chr10:91106000-91112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:91106200-91113400	Enhancers	Fetal Heart	heart
7	chr10:91106400-91112400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:91106400-91113200	Enhancers	Placenta	Placenta
9	chr10:91107800-91111800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:91108200-91111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:91108400-91112200	Weak transcription	Lung	lung
12	chr10:91108400-91113000	Enhancers	Stomach Mucosa	stomach
13	chr10:91108600-91122200	Weak transcription	Spleen	Spleen
14	chr10:91109400-91112400	Enhancers	Small Intestine	intestine
15	chr10:91109800-91112400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:91110000-91113000	Enhancers	Fetal Muscle Leg	muscle
17	chr10:91110200-91113000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:91110400-91112000	Enhancers	Primary hematopoietic stem cells	blood
19	chr10:91110400-91112000	Enhancers	NHLF	lung
20	chr10:91110400-91112200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:91110400-91112200	Enhancers	K562	blood
22	chr10:91110400-91112400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr10:91110400-91112400	Flanking Active TSS	GM12878-XiMat	blood
24	chr10:91110400-91112800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:91110400-91113000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr10:91110400-91113200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:91110600-91112200	Enhancers	Fetal Brain Female	brain
28	chr10:91110600-91112400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr10:91110600-91113000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:91110800-91111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:91110800-91111800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:91110800-91112200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:91110800-91112200	Enhancers	HUVEC	blood vessel
34	chr10:91110800-91112400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:91110800-91112400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr10:91110800-91112400	Enhancers	Fetal Stomach	stomach
37	chr10:91110800-91113200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:91111000-91111800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:91111000-91111800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:91111000-91112000	Enhancers	Rectal Smooth Muscle	rectum
41	chr10:91111000-91112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:91111000-91112200	Flanking Active TSS	Osteobl	bone
43	chr10:91111000-91112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:91111000-91112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:91111000-91112800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:91111000-91112800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:91111000-91112800	Flanking Active TSS	A549	lung
48	chr10:91111000-91113200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr10:91111200-91111800	Enhancers	Aorta	Aorta
50	chr10:91111200-91111800	Flanking Active TSS	NHDF-Ad	bronchial

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