Variant report

Variant	rs6784208
Chromosome Location	chr3:118931389-118931390
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	chr3:118914548..118916696-chr3:118929232..118931834,2	K562	blood:
2	chr3:118930290..118933103-chr3:118948127..118950986,2	K562	blood:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10511383	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921352	1.00[ASN][1000 genomes]
rs12487934	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493956	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829569	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17203062	1.00[ASN][1000 genomes]
rs4284973	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501106	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4568125	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776910	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428178	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614907	1.00[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6784208	IGSF11	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118904600-118936400	Weak transcription	Gastric	stomach
2	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:118923800-118931600	Enhancers	Stomach Mucosa	stomach
5	chr3:118924200-118931600	Weak transcription	NHDF-Ad	bronchial
6	chr3:118924400-118933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:118926000-118931600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:118926200-118931800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:118926200-118939400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr3:118926400-118931400	Weak transcription	NHLF	lung
13	chr3:118926600-118937000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:118926600-118937600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:118926800-118934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:118927000-118943200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:118927200-118932400	Weak transcription	Fetal Thymus	thymus
21	chr3:118927200-118932600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:118927200-118937400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:118927200-118939800	Strong transcription	Liver	Liver
24	chr3:118927200-118943000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:118927400-118931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:118927400-118935800	Strong transcription	HSMM	muscle
29	chr3:118927400-118937800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:118927400-118941200	Strong transcription	Placenta	Placenta
31	chr3:118927400-118950200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:118927400-118953000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:118927600-118932200	Strong transcription	Aorta	Aorta
34	chr3:118927600-118934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:118927600-118952400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:118927800-118939200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr3:118927800-118940600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:118927800-118943400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr3:118927800-118956400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:118928000-118931800	Genic enhancers	Fetal Intestine Small	intestine
41	chr3:118928000-118933000	Strong transcription	Ovary	ovary
42	chr3:118928000-118937000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr3:118928000-118943000	Strong transcription	Fetal Muscle Leg	muscle
44	chr3:118928000-118955600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:118928200-118932400	Strong transcription	HSMMtube	muscle
46	chr3:118928200-118939200	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr3:118928200-118940000	Strong transcription	Brain Hippocampus Middle	brain
48	chr3:118928200-118943200	Strong transcription	Fetal Stomach	stomach
49	chr3:118928200-118943400	Strong transcription	Adipose Nuclei	Adipose
50	chr3:118928200-118951000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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