Variant report

Variant	rs9462016
Chromosome Location	chr6:34739790-34739791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34738626..34740977-chr6:34741967..34744356,2	K562	blood:
2	chr6:34622560..34624840-chr6:34739559..34741975,2	K562	blood:
3	chr6:34736115..34738612-chr6:34739380..34741719,2	MCF-7	breast:
4	chr6:34739182..34741863-chr6:34755673..34758068,2	K562	blood:
5	chr6:34723826..34725518-chr6:34739318..34741861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11756392	0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759235	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555773	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894959	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883638	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997775	1.00[CEU][hapmap]
rs2395607	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492859	0.80[EUR][1000 genomes]
rs2504163	1.00[CEU][hapmap]
rs2504165	1.00[CEU][hapmap]
rs2744942	0.80[EUR][1000 genomes]
rs2744946	1.00[CEU][hapmap]
rs2744947	0.84[EUR][1000 genomes]
rs2744972	0.84[EUR][1000 genomes]
rs2764203	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2764205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814948	0.89[EUR][1000 genomes]
rs2814960	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814962	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815005	0.80[EUR][1000 genomes]
rs28567450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736896	0.97[AFR][1000 genomes]
rs3800457	0.84[EUR][1000 genomes]
rs4472337	0.84[EUR][1000 genomes]
rs4646925	1.00[CEU][hapmap]
rs56693020	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56930444	0.83[EUR][1000 genomes]
rs59142559	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60643641	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61431557	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911549	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936177	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6938239	0.92[EUR][1000 genomes]
rs73419607	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419621	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755822	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762485	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847854	1.00[CEU][hapmap]
rs847855	1.00[CEU][hapmap]
rs9296130	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296140	1.00[CEU][hapmap]
rs9462012	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9462014	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9462025	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462029	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469864	0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469890	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469895	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469897	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469900	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469910	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469911	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469913	0.87[EUR][1000 genomes]
rs9469919	1.00[CEU][hapmap]
rs9469926	1.00[CEU][hapmap]
rs9654581	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688715	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9462016	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34726000-34747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34726000-34750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:34726400-34739800	Weak transcription	Stomach Mucosa	stomach
4	chr6:34726800-34747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:34727000-34740200	Strong transcription	Fetal Muscle Leg	muscle
6	chr6:34727000-34743400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:34727000-34743800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr6:34727000-34744000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:34727000-34744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:34727000-34745200	Strong transcription	Fetal Thymus	thymus
11	chr6:34727200-34743800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:34727200-34743800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:34727200-34746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:34727400-34745200	Strong transcription	Fetal Intestine Large	intestine
15	chr6:34727800-34744800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:34727800-34745200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:34728400-34743200	Strong transcription	Brain Germinal Matrix	brain
18	chr6:34728400-34744400	Strong transcription	Dnd41	blood
19	chr6:34728600-34743800	Strong transcription	Liver	Liver
20	chr6:34728600-34748400	Weak transcription	Fetal Heart	heart
21	chr6:34728800-34745400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr6:34729200-34741400	Strong transcription	Ovary	ovary
23	chr6:34729400-34743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:34729400-34744600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:34729600-34743200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:34729600-34743200	Strong transcription	Placenta	Placenta
27	chr6:34729600-34743200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:34729600-34743600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:34729600-34743800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:34729600-34743800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:34729600-34743800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr6:34729600-34744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:34729600-34745000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:34729800-34743400	Strong transcription	Thymus	Thymus
35	chr6:34729800-34743800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:34729800-34743800	Strong transcription	Adipose Nuclei	Adipose
37	chr6:34730200-34741800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr6:34730200-34743800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:34730400-34743600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:34731200-34741200	Weak transcription	Fetal Brain Male	brain
41	chr6:34731200-34744000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:34731800-34743400	Strong transcription	Spleen	Spleen
43	chr6:34732400-34743000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr6:34732400-34743200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:34732400-34743800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:34732600-34743600	Strong transcription	HepG2	liver
47	chr6:34732600-34744200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:34732800-34741600	Strong transcription	HUVEC	blood vessel
49	chr6:34732800-34741800	Strong transcription	GM12878-XiMat	blood
50	chr6:34732800-34743800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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