Variant report

Variant	rs6457796
Chromosome Location	chr6:34828553-34828554
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	chr6:34828049..34830008-chr6:34830119..34831858,2	K562	blood:
2	chr6:34827930..34830077-chr6:34830559..34833296,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1018622	0.85[CHB][hapmap];0.80[CHD][hapmap];0.80[ASN][1000 genomes]
rs1051115	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs10947531	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs11755393	1.00[ASW][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs11961041	0.85[CHB][hapmap]
rs11966100	0.83[ASN][1000 genomes]
rs11968972	0.83[CHB][hapmap]
rs12111129	0.80[ASN][1000 genomes]
rs13195029	0.83[ASN][1000 genomes]
rs13195361	0.83[ASN][1000 genomes]
rs13196785	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs13200792	0.83[ASN][1000 genomes]
rs13205210	0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs13208149	0.83[ASN][1000 genomes]
rs13210470	0.83[ASN][1000 genomes]
rs13213239	0.80[ASN][1000 genomes]
rs13213288	0.83[ASN][1000 genomes]
rs13213604	0.83[ASN][1000 genomes]
rs13214596	0.83[ASN][1000 genomes]
rs13219307	0.85[CHB][hapmap]
rs13220394	0.81[MEX][hapmap];0.93[MKK][hapmap];0.80[YRI][hapmap]
rs1543558	0.85[AFR][1000 genomes]
rs16895035	0.83[LWK][hapmap]
rs16895659	0.80[ASN][1000 genomes]
rs1880090	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs2296361	0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs2296362	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs2395598	0.80[YRI][hapmap]
rs2395603	0.80[ASN][1000 genomes]
rs2395605	0.80[ASN][1000 genomes]
rs2744943	1.00[ASW][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap]
rs2744949	0.93[ASW][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap]
rs2744961	0.86[ASW][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap]
rs2764206	0.80[YRI][hapmap]
rs2764208	0.81[ASW][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap]
rs2814945	1.00[ASW][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap]
rs2814947	0.87[ASW][hapmap];0.81[MEX][hapmap]
rs2814966	0.80[YRI][hapmap]
rs2814971	1.00[ASW][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap]
rs28360525	0.80[ASN][1000 genomes]
rs34355573	0.83[ASN][1000 genomes]
rs34480956	0.83[ASN][1000 genomes]
rs34493158	0.81[AFR][1000 genomes]
rs34681295	0.83[ASN][1000 genomes]
rs34840245	0.83[ASN][1000 genomes]
rs35203657	0.83[ASN][1000 genomes]
rs35940001	0.83[ASN][1000 genomes]
rs3734259	0.83[LWK][hapmap]
rs3734261	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs3734264	1.00[ASW][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs3734266	0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs3800453	0.83[LWK][hapmap]
rs4259246	0.90[AFR][1000 genomes]
rs4646933	0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs6457792	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6457795	0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs6457797	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs6457798	0.80[ASN][1000 genomes]
rs6904996	0.80[ASN][1000 genomes]
rs6906129	1.00[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs6908462	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs6910824	0.80[ASN][1000 genomes]
rs6912327	1.00[ASW][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs6921363	0.86[AFR][1000 genomes]
rs6924898	0.80[YRI][hapmap];0.88[AFR][1000 genomes]
rs6925175	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs6925764	0.83[AFR][1000 genomes]
rs6926373	0.83[ASN][1000 genomes]
rs6939600	0.85[AFR][1000 genomes]
rs6941453	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs71567467	0.80[ASN][1000 genomes]
rs7341267	0.80[YRI][hapmap]
rs7739003	0.87[AFR][1000 genomes]
rs7739385	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7739771	0.82[MKK][hapmap]
rs7741437	0.80[YRI][hapmap]
rs7743724	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs7743949	0.85[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs7745097	0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs7748203	0.85[AFR][1000 genomes]
rs7752060	0.87[AFR][1000 genomes]
rs7755354	0.85[CHB][hapmap];0.80[CHD][hapmap];0.80[ASN][1000 genomes]
rs7755926	0.80[YRI][hapmap]
rs7756405	0.88[MKK][hapmap]
rs7756949	0.81[AFR][1000 genomes]
rs7759227	0.80[YRI][hapmap]
rs7761391	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[ASN][1000 genomes]
rs7764126	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7768759	0.90[AFR][1000 genomes]
rs7774697	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs912717	0.80[ASN][1000 genomes]
rs9296129	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs9296133	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9380455	1.00[ASW][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap]
rs9462006	0.80[YRI][hapmap]
rs9462015	0.86[LWK][hapmap];0.88[MKK][hapmap]
rs9462020	0.81[AFR][1000 genomes]
rs9462027	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469857	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs9469859	1.00[ASW][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap]
rs9469885	0.87[AFR][1000 genomes]
rs9469886	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs9469887	0.85[AFR][1000 genomes]
rs9469892	0.88[AFR][1000 genomes]
rs9469894	0.90[AFR][1000 genomes]
rs9469904	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469905	0.87[AFR][1000 genomes]
rs9469909	0.80[YRI][hapmap]
rs9469914	0.90[LWK][hapmap];0.90[MKK][hapmap]
rs9469917	1.00[ASW][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.90[AFR][1000 genomes]
rs9689160	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs6457796	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs6457796	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs6457796	C6orf89	cis	parietal	SCAN
rs6457796	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs6457796	UHRF1BP1	cis	Whole Blood	GTEx
rs6457796	SNRPC	cis	cerebellum	SCAN
rs6457796	UHRF1BP1	cis	Artery Tibial	GTEx
rs6457796	UHRF1BP1	cis	Nerve Tibial	GTEx
rs6457796	UHRF1BP1	cis	Artery Aorta	GTEx
rs6457796	C6orf106	cis	parietal	SCAN
rs6457796	CPNE5	cis	cerebellum	SCAN
rs6457796	SNRPC	cis	parietal	SCAN
rs6457796	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs6457796	C6orf107	cis	uninvolved skin	skin_eQTL
rs6457796	UHRF1BP1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34779400-34841000	Weak transcription	NH-A	brain
2	chr6:34786600-34838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34788200-34831800	Weak transcription	HUVEC	blood vessel
4	chr6:34788400-34830800	Weak transcription	Fetal Heart	heart
5	chr6:34816800-34853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:34817400-34851200	Strong transcription	Fetal Thymus	thymus
7	chr6:34818200-34829600	Strong transcription	HepG2	liver
8	chr6:34818600-34832800	Strong transcription	Fetal Stomach	stomach
9	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:34818800-34829000	Strong transcription	Fetal Muscle Leg	muscle
11	chr6:34819000-34829400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:34819000-34832000	Strong transcription	Fetal Intestine Large	intestine
13	chr6:34819000-34833000	Strong transcription	Liver	Liver
14	chr6:34819000-34842600	Strong transcription	Fetal Intestine Small	intestine
15	chr6:34819200-34833400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr6:34819400-34831400	Weak transcription	Right Atrium	heart
17	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:34822200-34829400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:34822400-34828800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:34822400-34829800	Strong transcription	Dnd41	blood
22	chr6:34822400-34831400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:34822600-34828600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:34822600-34829800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:34822600-34829800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:34822800-34828600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:34822800-34829000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:34822800-34829600	Strong transcription	Lung	lung
29	chr6:34822800-34829800	Strong transcription	Placenta	Placenta
30	chr6:34822800-34830000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:34822800-34833600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:34822800-34849400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:34823000-34828600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr6:34823000-34828800	Strong transcription	Primary T cells from cord blood	blood
35	chr6:34823000-34828800	Strong transcription	HSMMtube	muscle
36	chr6:34823000-34829200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:34823000-34829400	Strong transcription	Adipose Nuclei	Adipose
38	chr6:34823000-34829600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:34823000-34829800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:34823000-34829800	Strong transcription	Primary B cells from cord blood	blood
41	chr6:34823000-34829800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr6:34823000-34830000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:34823000-34832200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:34823000-34832600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:34823000-34851600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:34823200-34828600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:34823200-34828600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:34823200-34828600	Strong transcription	Brain Hippocampus Middle	brain
49	chr6:34823200-34828600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:34823200-34828800	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links