Variant report

Variant	rs4757764
Chromosome Location	chr11:19195213-19195214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11606142	0.85[CHB][hapmap]
rs11823088	0.89[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs4757763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4757767	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757764	E2F8	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
3	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain
5	chr11:19166400-19203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:19167800-19199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:19168000-19201600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:19169400-19197800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:19169400-19200400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:19170000-19200200	Strong transcription	Primary B cells from cord blood	blood
11	chr11:19172200-19208600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:19173400-19196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:19174000-19209000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:19176400-19213400	Weak transcription	Psoas Muscle	Psoas
15	chr11:19176800-19196000	Weak transcription	Right Ventricle	heart
16	chr11:19177800-19199000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:19178200-19199800	Strong transcription	Primary T cells from cord blood	blood
18	chr11:19182600-19196000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:19182600-19199400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:19184600-19196000	Weak transcription	NHLF	lung
21	chr11:19184600-19198800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:19184800-19197600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:19184800-19199200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:19184800-19201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:19185200-19198400	Strong transcription	Dnd41	blood
26	chr11:19185200-19198800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:19185400-19196600	Strong transcription	Fetal Intestine Large	intestine
28	chr11:19185400-19200200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:19186000-19196600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:19186000-19199600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:19186200-19199000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:19186400-19195800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:19186400-19198600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:19187000-19199000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:19187200-19195600	Strong transcription	GM12878-XiMat	blood
36	chr11:19187200-19205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:19187200-19208200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:19187400-19201200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:19187600-19202000	Weak transcription	HepG2	liver
40	chr11:19190000-19199600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:19190600-19198000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:19191400-19199200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:19191600-19196600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:19192200-19196400	Strong transcription	Aorta	Aorta
45	chr11:19192200-19198800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:19192400-19196200	Strong transcription	Adipose Nuclei	Adipose
47	chr11:19192400-19196400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:19192400-19197600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:19192400-19197600	Strong transcription	Fetal Thymus	thymus
50	chr11:19192400-19198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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