Variant report

Variant	rs17706748
Chromosome Location	chr6:71140367-71140368
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	chr6:71139434..71142286-chr6:71311712..71314259,2	K562	blood:
2	chr6:71103303..71106038-chr6:71138215..71140501,3	K562	blood:

Variant related genes	Relation type
ENSG00000237643	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10214805	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10455706	0.93[CEU][hapmap]
rs1048886	0.93[CEU][hapmap]
rs1075263	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs10945230	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10945231	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs11965656	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs12191321	0.80[AMR][1000 genomes]
rs12197942	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12197963	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12200777	1.00[CEU][hapmap]
rs12201029	0.80[AMR][1000 genomes]
rs12203089	0.86[AMR][1000 genomes]
rs12203298	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12209965	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12216376	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12524814	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12525538	0.81[AMR][1000 genomes]
rs12525777	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526164	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12526787	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526827	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs12526961	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12527634	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs12528385	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12528391	0.92[EUR][1000 genomes]
rs12528866	0.89[EUR][1000 genomes]
rs12529284	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12529309	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12529984	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs12530057	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12530358	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16869156	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs16869158	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs16869168	0.83[EUR][1000 genomes]
rs16869170	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs16869267	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs16869353	0.85[EUR][1000 genomes]
rs16869370	0.93[CEU][hapmap]
rs16869371	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16869373	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1739338	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs17634272	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17634491	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17635446	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17635510	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17706833	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17713105	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713212	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713547	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2207423	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2207425	1.00[CEU][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2273210	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs2293297	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2295200	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2346889	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs2346890	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2639291	0.81[EUR][1000 genomes]
rs2639297	0.93[CEU][hapmap]
rs2691486	0.92[CEU][hapmap]
rs2691496	0.93[CEU][hapmap]
rs2747702	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2842063	0.93[CEU][hapmap]
rs3193656	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs35159719	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3846746	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs3846748	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs3846750	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs3889007	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs41265349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4283855	0.94[CEU][hapmap]
rs4496758	0.93[CEU][hapmap]
rs45460797	0.85[AMR][1000 genomes]
rs55639214	0.86[AMR][1000 genomes]
rs55761717	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55968813	0.86[EUR][1000 genomes]
rs55990553	0.91[EUR][1000 genomes]
rs55990831	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56074506	0.85[EUR][1000 genomes]
rs56114703	0.86[AMR][1000 genomes]
rs56143128	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56179165	0.85[EUR][1000 genomes]
rs56322111	0.85[EUR][1000 genomes]
rs56351105	0.84[EUR][1000 genomes]
rs56397968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144467	0.91[EUR][1000 genomes]
rs58637377	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59275635	0.91[EUR][1000 genomes]
rs59698166	0.93[EUR][1000 genomes]
rs6455367	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs6455370	1.00[CEU][hapmap]
rs6900840	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6901904	0.89[EUR][1000 genomes]
rs6902773	0.83[EUR][1000 genomes]
rs6906592	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6911812	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6911983	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6913548	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs6915405	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs6916974	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6918393	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs6923292	0.83[EUR][1000 genomes]
rs6931901	0.85[EUR][1000 genomes]
rs6932470	0.92[EUR][1000 genomes]
rs6933150	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs6933337	0.92[EUR][1000 genomes]
rs6934660	0.85[EUR][1000 genomes]
rs6936550	0.85[EUR][1000 genomes]
rs6940416	0.82[CEU][hapmap]
rs6941595	0.85[EUR][1000 genomes]
rs6942012	1.00[CEU][hapmap]
rs73474910	0.85[EUR][1000 genomes]
rs73474927	0.92[EUR][1000 genomes]
rs73474934	0.92[EUR][1000 genomes]
rs73474937	0.91[EUR][1000 genomes]
rs73474966	0.92[EUR][1000 genomes]
rs73474998	0.89[EUR][1000 genomes]
rs73478819	0.89[EUR][1000 genomes]
rs73480275	0.84[EUR][1000 genomes]
rs73480280	0.84[EUR][1000 genomes]
rs73482554	0.89[EUR][1000 genomes]
rs73482557	0.89[EUR][1000 genomes]
rs73482585	0.89[EUR][1000 genomes]
rs7450771	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7740873	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7741265	1.00[CEU][hapmap]
rs7742044	0.88[EUR][1000 genomes]
rs7743819	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs7752409	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs7753355	0.94[CEU][hapmap]
rs7756774	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7757026	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7759464	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs7766075	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs7767149	0.83[EUR][1000 genomes]
rs7769582	0.93[CEU][hapmap]
rs7775962	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs9283835	1.00[CEU][hapmap]
rs9294868	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs9294871	0.85[EUR][1000 genomes]
rs9294872	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9294874	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs9294876	1.00[CEU][hapmap]
rs9446245	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs9446246	0.88[EUR][1000 genomes]
rs9446248	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9446252	0.83[EUR][1000 genomes]
rs9446267	1.00[CEU][hapmap]
rs9455092	0.94[CEU][hapmap]
rs9455093	0.89[EUR][1000 genomes]
rs9455094	0.96[EUR][1000 genomes]
rs9455097	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9455101	0.96[EUR][1000 genomes]
rs9455104	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs9455105	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs9455113	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9455114	0.86[EUR][1000 genomes]
rs9455121	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9455130	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs9455132	0.94[CEU][hapmap]
rs9455139	0.85[EUR][1000 genomes]
rs9455140	0.85[EUR][1000 genomes]
rs9455150	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9455151	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9455158	1.00[CEU][hapmap]
rs9455160	1.00[CEU][hapmap]
rs9455161	0.85[EUR][1000 genomes]
rs9455162	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9455163	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	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
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	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
11	nsv966632	chr6:71138127-71144459	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71124200-71141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:71124200-71141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
7	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:71124400-71140400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:71124400-71143000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:71124400-71143200	Weak transcription	Psoas Muscle	Psoas
11	chr6:71124400-71148800	Weak transcription	NHLF	lung
12	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:71124600-71140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:71124600-71141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:71124600-71142600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:71124600-71142800	Weak transcription	NHDF-Ad	bronchial
20	chr6:71124600-71145000	Weak transcription	HUVEC	blood vessel
21	chr6:71124600-71157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:71124600-71157800	Weak transcription	Colonic Mucosa	Colon
23	chr6:71125000-71145000	Weak transcription	Fetal Thymus	thymus
24	chr6:71125000-71147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:71125000-71148400	Weak transcription	Brain Germinal Matrix	brain
26	chr6:71125000-71148800	Weak transcription	Fetal Brain Male	brain
27	chr6:71125200-71142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:71125400-71188800	Weak transcription	HSMM	muscle
30	chr6:71125600-71143000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:71125600-71162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:71126000-71157800	Weak transcription	Dnd41	blood
33	chr6:71128600-71156800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:71128800-71140600	Weak transcription	Esophagus	oesophagus
35	chr6:71128800-71140800	Weak transcription	Aorta	Aorta
36	chr6:71128800-71154800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:71128800-71157800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:71130000-71141000	Weak transcription	Left Ventricle	heart
39	chr6:71130200-71183200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:71130200-71185400	Weak transcription	K562	blood
41	chr6:71131400-71148400	Weak transcription	GM12878-XiMat	blood
42	chr6:71133800-71140400	Weak transcription	Primary T cells from cord blood	blood
43	chr6:71133800-71146600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:71134000-71141600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:71134000-71148200	Weak transcription	Fetal Kidney	kidney
46	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:71134200-71161400	Weak transcription	Small Intestine	intestine
48	chr6:71134600-71149200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:71136000-71141400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:71136000-71148200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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