Variant report

Variant	rs9496372
Chromosome Location	chr6:142731921-142731922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10080722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10080956	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321867	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9484631	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9484632	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484633	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496354	1.00[AMR][1000 genomes]
rs9496356	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496357	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496358	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496360	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496367	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496368	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496371	1.00[AFR][1000 genomes];1.00[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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS 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
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142698600-142733200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:142708000-142734800	Weak transcription	Esophagus	oesophagus
3	chr6:142710200-142733400	Weak transcription	HSMM	muscle
4	chr6:142712200-142735000	Weak transcription	Fetal Brain Male	brain
5	chr6:142714200-142733200	Weak transcription	HMEC	breast
6	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:142719800-142735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:142720400-142733200	Weak transcription	NHEK	skin
9	chr6:142720600-142736800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:142721600-142749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:142722000-142743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:142722200-142734200	Weak transcription	Hela-S3	cervix
13	chr6:142725000-142732800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:142725400-142732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:142726200-142736000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:142726600-142737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:142726800-142732400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:142726800-142738000	Weak transcription	Stomach Mucosa	stomach
19	chr6:142727000-142743400	Strong transcription	HepG2	liver
20	chr6:142728400-142736800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:142728800-142733600	Weak transcription	HSMMtube	muscle
22	chr6:142729200-142743200	Strong transcription	Liver	Liver
23	chr6:142729400-142733200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:142729600-142733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:142729800-142732600	Strong transcription	Fetal Lung	lung
26	chr6:142730000-142732400	Weak transcription	NHDF-Ad	bronchial
27	chr6:142730200-142747600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:142730400-142738200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:142731000-142732600	Enhancers	Primary T cells from cord blood	blood
30	chr6:142731000-142733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:142731000-142733000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:142731200-142732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:142731200-142733400	Genic enhancers	A549	lung
34	chr6:142731200-142733400	Weak transcription	Osteobl	bone
35	chr6:142731200-142733600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:142731200-142737000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:142731400-142733200	Weak transcription	NHLF	lung
38	chr6:142731400-142733400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:142731400-142733600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:142731600-142733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:142731600-142733800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:142731600-142734800	Weak transcription	Placenta	Placenta
43	chr6:142731600-142737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:142731800-142734000	Genic enhancers	HUVEC	blood vessel

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