Variant report

Variant	rs456598
Chromosome Location	chr6:160538921-160538922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160534504..160540683-chr6:160541496..160546529,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC22A2-1	chr6:160538218-160539659	XLOC_005902

Variant related genes	Relation type
ENSG00000175003	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs463599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs662138	0.90[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs456598	OSTCL	cis	parietal	SCAN
rs456598	GTF2H5	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160512000-160539200	Weak transcription	Stomach Mucosa	stomach
2	chr6:160523200-160540200	Weak transcription	Fetal Heart	heart
3	chr6:160526200-160539000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:160526200-160548600	Weak transcription	K562	blood
5	chr6:160526800-160540600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:160526800-160545000	Weak transcription	HMEC	breast
7	chr6:160527000-160545000	Weak transcription	NHDF-Ad	bronchial
8	chr6:160527200-160541200	Weak transcription	Osteobl	bone
9	chr6:160527400-160549200	Weak transcription	Colonic Mucosa	Colon
10	chr6:160527400-160550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:160527600-160541200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:160529000-160539600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:160529400-160548000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:160529400-160559200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:160530400-160548600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:160530600-160543000	Weak transcription	Fetal Lung	lung
17	chr6:160530800-160542800	Weak transcription	Right Atrium	heart
18	chr6:160530800-160553400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:160531400-160545400	Weak transcription	NHLF	lung
20	chr6:160532200-160542400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:160533400-160552800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:160534000-160539800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:160534400-160541200	Weak transcription	Aorta	Aorta
24	chr6:160534400-160544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:160534600-160540200	Weak transcription	HepG2	liver
26	chr6:160535600-160539200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:160536400-160539400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:160536400-160539800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:160536600-160539600	ZNF genes & repeats	Dnd41	blood
30	chr6:160537000-160539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:160537400-160539400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:160537600-160539600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:160537600-160539800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr6:160537600-160540200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:160537600-160540200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr6:160537800-160539400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:160538000-160539200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr6:160538000-160539200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:160538000-160539400	Strong transcription	Gastric	stomach
40	chr6:160538000-160539400	ZNF genes & repeats	Thymus	Thymus
41	chr6:160538000-160539400	ZNF genes & repeats	Spleen	Spleen
42	chr6:160538000-160539600	Strong transcription	Right Ventricle	heart
43	chr6:160538000-160539800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:160538000-160539800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:160538000-160540200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:160538000-160540200	ZNF genes & repeats	Fetal Stomach	stomach
47	chr6:160538200-160539000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:160538200-160539200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
49	chr6:160538200-160539200	Strong transcription	Brain Substantia Nigra	brain
50	chr6:160538200-160539400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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