Variant report

Variant	rs326208
Chromosome Location	chr5:7855438-7855439
allele	A/T
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	MAFK	chr5:7855269-7855457	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:7853734..7857380-chr5:7861727..7863864,3	K562	blood:
2	chr5:7853734..7855921-chr5:7861727..7863291,2	K562	blood:
3	chr5:7853828..7855824-chr5:7856209..7859029,2	K562	blood:

Variant related genes	Relation type
C5orf49	TF binding region
ENSG00000124279	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10512931	1.00[EUR][1000 genomes]
rs13154074	1.00[EUR][1000 genomes]
rs13161857	1.00[EUR][1000 genomes]
rs13163930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1384232	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs161875	1.00[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162042	1.00[EUR][1000 genomes]
rs162043	1.00[EUR][1000 genomes]
rs162044	1.00[EUR][1000 genomes]
rs162046	1.00[EUR][1000 genomes]
rs162052	1.00[EUR][1000 genomes]
rs162053	1.00[EUR][1000 genomes]
rs162271	1.00[EUR][1000 genomes]
rs2613667	1.00[CEU][hapmap]
rs327579	1.00[EUR][1000 genomes]
rs327580	1.00[EUR][1000 genomes]
rs327584	1.00[EUR][1000 genomes]
rs327585	1.00[EUR][1000 genomes]
rs327593	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35228894	1.00[EUR][1000 genomes]
rs41282643	1.00[EUR][1000 genomes]
rs71604190	1.00[EUR][1000 genomes]
rs71604198	0.82[EUR][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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851200-7859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:7851400-7857800	Weak transcription	Left Ventricle	heart
3	chr5:7851400-7858000	Weak transcription	HSMM	muscle
4	chr5:7851400-7859600	Weak transcription	Esophagus	oesophagus
5	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:7851600-7857000	Weak transcription	Fetal Stomach	stomach
7	chr5:7851600-7857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:7851600-7857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:7851600-7857600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:7851600-7857600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:7851600-7857800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:7851600-7857800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:7851600-7857800	Weak transcription	Fetal Intestine Large	intestine
14	chr5:7851600-7858000	Weak transcription	Adipose Nuclei	Adipose
15	chr5:7851600-7858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:7851600-7859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:7851600-7859200	Weak transcription	Fetal Brain Female	brain
18	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
19	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
20	chr5:7851600-7860000	Weak transcription	Aorta	Aorta
21	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
24	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
25	chr5:7851800-7857800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:7851800-7859200	Weak transcription	HMEC	breast
27	chr5:7851800-7859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
29	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:7852000-7857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:7852200-7858000	Weak transcription	A549	lung
32	chr5:7852200-7858200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:7852200-7867600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:7852200-7868400	Weak transcription	Gastric	stomach
37	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:7852400-7857600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:7852400-7859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:7852400-7859800	Weak transcription	Spleen	Spleen
41	chr5:7852400-7861000	Weak transcription	HepG2	liver
42	chr5:7852400-7867800	Weak transcription	Fetal Brain Male	brain
43	chr5:7852600-7857600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:7852600-7857600	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:7852600-7858000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:7852600-7858600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:7852800-7857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:7852800-7857600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:7852800-7858000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:7852800-7858000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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