Variant report

Variant	rs3813383
Chromosome Location	chr7:22233813-22233814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr7:22232727-22233822	H1-neurons	neurons:	n/a	n/a
2	REST	chr7:22231867-22233981	H1-neurons	neurons:	n/a	n/a
3	CTBP2	chr7:22232964-22233814	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RAPGEF5	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10499557	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs12530484	0.86[TSI][hapmap]
rs16873151	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16873181	0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs17146368	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.95[ASN][1000 genomes]
rs17146385	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17146424	0.85[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17150403	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4406309	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722108	0.86[TSI][hapmap]
rs6957641	0.85[CEU][hapmap]
rs6965394	0.86[TSI][hapmap]
rs7776500	0.90[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs7810806	0.86[TSI][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	nsv606405	chr7:22202485-22235825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3813383	FERD3L	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
2	chr7:22214400-22247400	Weak transcription	HUVEC	blood vessel
3	chr7:22219600-22234600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:22222200-22235200	Weak transcription	GM12878-XiMat	blood
5	chr7:22223200-22242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:22223800-22234200	Weak transcription	HMEC	breast
7	chr7:22225400-22253600	Weak transcription	Stomach Mucosa	stomach
8	chr7:22225800-22246800	Strong transcription	Dnd41	blood
9	chr7:22227000-22236800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr7:22227400-22245600	Strong transcription	HepG2	liver
11	chr7:22230400-22243000	Weak transcription	Gastric	stomach
12	chr7:22232400-22234600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:22233000-22235400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:22233400-22234200	Weak transcription	Fetal Thymus	thymus
15	chr7:22233400-22234400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:22233400-22235400	Strong transcription	Fetal Intestine Large	intestine
17	chr7:22233400-22247600	Weak transcription	Psoas Muscle	Psoas
18	chr7:22233400-22259200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:22233600-22234000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:22233600-22234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:22233600-22234800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr7:22233600-22235600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:22233600-22236600	Weak transcription	Fetal Intestine Small	intestine
24	chr7:22233600-22236600	Weak transcription	Lung	lung
25	chr7:22233600-22238400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:22233600-22238400	Weak transcription	Spleen	Spleen
27	chr7:22233600-22238800	Weak transcription	Pancreas	Pancrea
28	chr7:22233600-22240600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:22233600-22240800	Weak transcription	Right Atrium	heart
30	chr7:22233600-22241400	Weak transcription	Aorta	Aorta
31	chr7:22233600-22242800	Weak transcription	Thymus	Thymus
32	chr7:22233600-22247600	Weak transcription	Right Ventricle	heart
33	chr7:22233600-22253600	Weak transcription	Esophagus	oesophagus
34	chr7:22233600-22257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:22233800-22234000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:22233800-22234000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:22233800-22234000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:22233800-22234000	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:22233800-22234200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:22233800-22234200	Enhancers	Brain Anterior Caudate	brain
41	chr7:22233800-22234200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:22233800-22234200	Enhancers	Fetal Kidney	kidney
43	chr7:22233800-22234400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:22233800-22234400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:22233800-22234400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:22233800-22234600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:22233800-22234800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr7:22233800-22235200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr7:22233800-22235400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:22233800-22235400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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