Variant report

Variant	rs2747703
Chromosome Location	chr6:71195442-71195443
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	chr6:71195034..71197848-chr6:71198346..71201076,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10485118	1.00[JPT][hapmap]
rs10485119	1.00[JPT][hapmap]
rs1048886	0.92[JPT][hapmap]
rs1075262	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1075263	1.00[JPT][hapmap]
rs10945230	1.00[JPT][hapmap]
rs10945236	0.84[EUR][1000 genomes]
rs11965656	1.00[JPT][hapmap]
rs1208476	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208477	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190556	0.96[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes]
rs12197942	1.00[JPT][hapmap]
rs12197963	1.00[JPT][hapmap]
rs12198920	0.84[EUR][1000 genomes]
rs12203298	1.00[JPT][hapmap]
rs12205103	0.83[EUR][1000 genomes]
rs12209965	1.00[JPT][hapmap]
rs12215765	0.87[EUR][1000 genomes]
rs12216376	1.00[JPT][hapmap]
rs12526164	1.00[JPT][hapmap]
rs12526827	1.00[JPT][hapmap]
rs12527634	1.00[JPT][hapmap]
rs12529284	1.00[JPT][hapmap]
rs13202450	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13437371	0.82[EUR][1000 genomes]
rs13654	0.85[EUR][1000 genomes]
rs16869156	1.00[JPT][hapmap]
rs16869158	1.00[JPT][hapmap]
rs16869170	1.00[JPT][hapmap]
rs16869211	0.92[JPT][hapmap]
rs16869221	1.00[JPT][hapmap]
rs16869228	1.00[JPT][hapmap]
rs16869238	1.00[JPT][hapmap]
rs16869243	1.00[JPT][hapmap]
rs16869244	0.92[JPT][hapmap]
rs16869267	1.00[JPT][hapmap]
rs16869273	1.00[JPT][hapmap]
rs16869338	1.00[JPT][hapmap]
rs16869353	1.00[JPT][hapmap]
rs16869370	1.00[JPT][hapmap]
rs16869371	1.00[JPT][hapmap]
rs16869373	1.00[JPT][hapmap]
rs16880770	1.00[JPT][hapmap]
rs1739338	1.00[JPT][hapmap]
rs1775338	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1917344	0.83[EUR][1000 genomes]
rs2207423	1.00[JPT][hapmap]
rs2262681	1.00[YRI][hapmap]
rs2273210	1.00[JPT][hapmap]
rs2293297	1.00[JPT][hapmap]
rs2295200	1.00[JPT][hapmap]
rs2346889	1.00[JPT][hapmap]
rs2346890	1.00[JPT][hapmap]
rs2347427	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2639297	1.00[JPT][hapmap]
rs2691505	0.81[EUR][1000 genomes]
rs2747702	1.00[JPT][hapmap]
rs2842063	0.92[JPT][hapmap]
rs3193656	1.00[JPT][hapmap]
rs34378057	0.84[EUR][1000 genomes]
rs34873840	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35516318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542509	0.81[ASN][1000 genomes]
rs3736751	1.00[JPT][hapmap]
rs3736752	0.92[JPT][hapmap]
rs3763251	0.86[EUR][1000 genomes]
rs3846746	0.92[JPT][hapmap]
rs3846748	1.00[JPT][hapmap]
rs3846750	1.00[JPT][hapmap]
rs3889007	1.00[JPT][hapmap]
rs4283855	1.00[JPT][hapmap]
rs4496758	1.00[JPT][hapmap]
rs6455367	1.00[JPT][hapmap]
rs6455370	1.00[JPT][hapmap]
rs6455371	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6900840	1.00[JPT][hapmap]
rs6902797	1.00[JPT][hapmap]
rs6902986	1.00[JPT][hapmap]
rs6906572	1.00[JPT][hapmap]
rs6906592	1.00[JPT][hapmap]
rs6910903	1.00[JPT][hapmap]
rs6911812	1.00[JPT][hapmap]
rs6911983	1.00[JPT][hapmap]
rs6913548	1.00[JPT][hapmap]
rs6915405	1.00[JPT][hapmap]
rs6916974	1.00[JPT][hapmap]
rs6917368	1.00[JPT][hapmap]
rs6918393	0.92[JPT][hapmap]
rs6922680	1.00[JPT][hapmap]
rs6925112	0.84[EUR][1000 genomes]
rs6925839	0.82[EUR][1000 genomes]
rs6926591	1.00[JPT][hapmap]
rs6930397	1.00[JPT][hapmap]
rs6931901	1.00[JPT][hapmap]
rs6933150	1.00[JPT][hapmap]
rs6933784	1.00[JPT][hapmap]
rs6939478	1.00[JPT][hapmap]
rs6939814	1.00[JPT][hapmap]
rs6940416	1.00[JPT][hapmap]
rs6941205	0.92[JPT][hapmap]
rs6942012	1.00[JPT][hapmap]
rs7341224	0.84[EUR][1000 genomes]
rs7739098	0.96[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs7740873	1.00[JPT][hapmap]
rs7741265	1.00[JPT][hapmap]
rs7743819	1.00[JPT][hapmap]
rs7752409	1.00[JPT][hapmap]
rs7753355	1.00[JPT][hapmap]
rs7756652	0.86[EUR][1000 genomes]
rs7757026	1.00[JPT][hapmap]
rs7759464	1.00[JPT][hapmap]
rs7765110	1.00[JPT][hapmap]
rs7766075	1.00[JPT][hapmap]
rs7767109	1.00[JPT][hapmap]
rs7769582	1.00[JPT][hapmap]
rs7775962	1.00[JPT][hapmap]
rs9283835	1.00[JPT][hapmap]
rs9294868	1.00[JPT][hapmap]
rs9294872	1.00[JPT][hapmap]
rs9294874	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9294876	1.00[JPT][hapmap]
rs9446245	1.00[JPT][hapmap]
rs9446248	1.00[JPT][hapmap]
rs9446267	1.00[JPT][hapmap]
rs9446274	0.84[EUR][1000 genomes]
rs9446275	0.84[EUR][1000 genomes]
rs9455092	1.00[JPT][hapmap]
rs9455104	1.00[JPT][hapmap]
rs9455105	1.00[JPT][hapmap]
rs9455113	1.00[JPT][hapmap]
rs9455121	1.00[JPT][hapmap]
rs9455130	1.00[JPT][hapmap]
rs9455132	1.00[JPT][hapmap]
rs9455133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9455158	0.92[JPT][hapmap]
rs9455160	1.00[JPT][hapmap]
rs9455162	1.00[JPT][hapmap]
rs9455163	1.00[JPT][hapmap]
rs9455167	0.91[JPT][hapmap]
rs9455168	0.91[JPT][hapmap]
rs9455179	0.84[EUR][1000 genomes]
rs9455180	0.84[EUR][1000 genomes]
rs9455185	0.84[EUR][1000 genomes]
rs9455186	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2747703	C6orf57	cis	parietal	SCAN
rs2747703	C6orf57	cis	multi-tissue	Pritchard
rs2747703	C6orf57	cis	Thyroid	GTEx
rs2747703	C6orf57	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
4	chr6:71158400-71198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:71158400-71213600	Weak transcription	NHEK	skin
6	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
7	chr6:71175000-71197400	Weak transcription	Fetal Thymus	thymus
8	chr6:71177800-71196200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:71178000-71210400	Weak transcription	Lung	lung
10	chr6:71180400-71212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:71180800-71200000	Weak transcription	Brain Anterior Caudate	brain
12	chr6:71181600-71213600	Weak transcription	HMEC	breast
13	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:71182000-71196600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
16	chr6:71184000-71212800	Weak transcription	A549	lung
17	chr6:71184200-71199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:71184400-71199800	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:71184400-71210400	Weak transcription	Fetal Stomach	stomach
20	chr6:71184600-71199400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:71184600-71209600	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:71184600-71210600	Weak transcription	Esophagus	oesophagus
23	chr6:71184600-71213400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:71185200-71213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:71185400-71196000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:71185400-71197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:71185800-71212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:71185800-71212800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:71186000-71210400	Weak transcription	Aorta	Aorta
30	chr6:71187200-71198000	Weak transcription	HUVEC	blood vessel
31	chr6:71187200-71212400	Weak transcription	Fetal Kidney	kidney
32	chr6:71187200-71212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:71187400-71196000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:71187400-71196000	Weak transcription	Spleen	Spleen
35	chr6:71187400-71197000	Weak transcription	Fetal Brain Female	brain
36	chr6:71187400-71198200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:71187400-71199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:71187400-71202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:71187400-71210800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:71187400-71211200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:71187400-71212400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:71187400-71212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:71187400-71212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:71187400-71212800	Weak transcription	Right Ventricle	heart
45	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
46	chr6:71187800-71211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:71187800-71212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:71188000-71198800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:71188200-71212800	Weak transcription	HepG2	liver
50	chr6:71188400-71212200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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