Variant report

Variant	rs6484817
Chromosome Location	chr11:36146925-36146926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11606633	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs263087	1.00[CHB][hapmap]
rs4450151	0.87[ASW][hapmap];0.88[YRI][hapmap]
rs7106469	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv897226	chr11:36139934-36169869	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6484817	CCDC73	cis	cerebellum	SCAN
rs6484817	SLC1A2	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36132400-36147400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:36133000-36152200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:36136000-36147000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36136000-36147200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:36136000-36152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:36136200-36147600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:36137000-36147200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:36137000-36147200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:36137400-36147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36137400-36147400	Weak transcription	Gastric	stomach
11	chr11:36137400-36153800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:36137800-36147400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:36137800-36171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:36139200-36147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:36139400-36153600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:36141600-36148800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:36142000-36148400	Enhancers	Brain Substantia Nigra	brain
18	chr11:36143000-36147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:36143000-36147400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:36143000-36152800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:36143200-36147400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:36144200-36148600	Enhancers	K562	blood
23	chr11:36144400-36151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:36145000-36151400	Weak transcription	NHEK	skin
25	chr11:36145000-36151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:36145200-36153800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:36145200-36154200	Weak transcription	NHLF	lung
28	chr11:36145400-36147400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:36145400-36147400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:36145400-36147400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:36145400-36148000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:36145400-36152400	Weak transcription	Spleen	Spleen
33	chr11:36145400-36168000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:36145400-36170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:36145600-36147400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:36145600-36148400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr11:36145800-36147200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:36145800-36149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:36145800-36151600	Weak transcription	HSMMtube	muscle
40	chr11:36145800-36151800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:36145800-36151800	Weak transcription	HSMM	muscle
42	chr11:36145800-36152000	Weak transcription	HUVEC	blood vessel
43	chr11:36145800-36153200	Weak transcription	Fetal Brain Male	brain
44	chr11:36146000-36147200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:36146200-36147400	Weak transcription	Fetal Stomach	stomach
46	chr11:36146200-36148000	Weak transcription	Fetal Lung	lung
47	chr11:36146200-36150800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:36146200-36151000	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:36146600-36147000	Enhancers	Fetal Intestine Small	intestine
50	chr11:36146600-36147600	Weak transcription	Brain Anterior Caudate	brain

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