Variant report

Variant	rs10456192
Chromosome Location	chr6:56928274-56928275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56927166..56931144-chr6:56933264..56935740,4	K562	blood:
2	chr6:56927954..56930508-chr6:56970554..56972166,2	K562	blood:
3	chr6:56923126..56925148-chr6:56926717..56929557,2	K562	blood:
4	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
5	chr6:56926145..56928698-chr6:56928741..56930735,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10484410	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12192222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12194407	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12198801	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12201039	0.83[EUR][1000 genomes]
rs12214119	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12214882	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17619360	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800023	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3957366	0.84[EUR][1000 genomes]
rs6459178	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6918222	0.84[EUR][1000 genomes]
rs6936506	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72868608	0.86[AMR][1000 genomes]
rs7756421	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7771115	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking 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	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv970684	chr6:56912349-56953340	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv2763988	chr6:56913072-56952630	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv603189	chr6:56913453-56950609	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv538230	chr6:56913943-56951703	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv526143	chr6:56917538-56954439	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10456192	RAB23	Cis_1M	lymphoblastoid	RTeQTL
rs10456192	BEND6	cis	Muscle Skeletal	GTEx
rs10456192	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911600-56935200	Weak transcription	Gastric	stomach
2	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
4	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
7	chr6:56913400-56940600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:56913600-56931600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:56913600-56934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:56913600-56941600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:56913800-56930600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:56914000-56934600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:56914200-56929600	Weak transcription	Fetal Brain Male	brain
14	chr6:56914200-56931000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:56914200-56934200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:56914400-56928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:56914400-56929000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:56914400-56931800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:56914400-56935000	Weak transcription	Fetal Kidney	kidney
20	chr6:56914600-56954200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:56915000-56930200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:56915000-56932000	Strong transcription	Placenta	Placenta
23	chr6:56915000-56940200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:56915400-56929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:56916800-56930400	Weak transcription	Spleen	Spleen
26	chr6:56916800-56935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:56916800-56935600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:56916800-56954400	Weak transcription	Thymus	Thymus
29	chr6:56917000-56934000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:56917800-56929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:56917800-56933800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:56918000-56931600	Weak transcription	A549	lung
33	chr6:56918200-56940400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:56918400-56932400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:56918400-56936600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:56918400-56954200	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:56918600-56929600	Weak transcription	Primary T cells from cord blood	blood
38	chr6:56918800-56938600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:56919000-56933600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:56919600-56930200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:56920000-56930200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:56921200-56928800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:56921600-56928400	Weak transcription	Adipose Nuclei	Adipose
44	chr6:56921600-56938400	Weak transcription	Aorta	Aorta
45	chr6:56921600-56940600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:56921600-56941200	Weak transcription	NHEK	skin
47	chr6:56922000-56929200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:56922600-56929800	Strong transcription	K562	blood
49	chr6:56922800-56929400	Weak transcription	NHLF	lung
50	chr6:56923000-56929600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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