Variant report

Variant	rs8065778
Chromosome Location	chr17:60081607-60081608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59984959..59987360-chr17:60080196..60082621,4	MCF-7	breast:
2	chr17:60081273..60082071-chr20:54155196..54156093,3	MCF-7	breast:
3	chr17:60081541..60082370-chr20:54154818..54155603,3	MCF-7	breast:
4	chr17:60076983..60082138-chr20:45769683..45772902,13	MCF-7	breast:
5	chr17:60076388..60082656-chr17:60092955..60097043,6	MCF-7	breast:
6	chr17:60070989..60072709-chr17:60080027..60082957,3	MCF-7	breast:
7	chr17:60081127..60081940-chr20:54153270..54153894,2	MCF-7	breast:
8	chr17:60081459..60082762-chr20:54155388..54157391,9	MCF-7	breast:
9	chr17:60080313..60083251-chr17:60141793..60143983,4	MCF-7	breast:
10	chr17:59488507..59492076-chr17:60078384..60081722,3	MCF-7	breast:
11	chr17:59940486..59943242-chr17:60081179..60083524,3	MCF-7	breast:
12	chr17:59939445..59941230-chr17:60080867..60083068,2	MCF-7	breast:
13	chr17:60081219..60081863-chr20:54156756..54157357,2	MCF-7	breast:
14	chr17:60079916..60082717-chr20:54154638..54157436,18	MCF-7	breast:
15	chr17:60004211..60007034-chr17:60081016..60083481,3	MCF-7	breast:
16	chr17:60081482..60082326-chr2:210773823..210774820,2	MCF-7	breast:
17	chr11:62607588..62609568-chr17:60079184..60081818,2	MCF-7	breast:
18	chr17:60080572..60082564-chr17:60139030..60141974,2	K562	blood:
19	chr17:60080672..60083062-chr17:60094913..60097385,2	MCF-7	breast:
20	chr17:60081361..60082264-chr20:54156034..54156569,2	MCF-7	breast:
21	chr17:60080434..60082668-chr17:60139795..60141369,2	MCF-7	breast:
22	chr17:60058728..60061082-chr17:60079953..60082056,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000221302	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10512492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079459	0.84[AFR][1000 genomes]
rs12450223	0.86[ASN][1000 genomes]
rs12450560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12451910	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs12452094	1.00[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12452732	0.83[AMR][1000 genomes]
rs12452742	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12600620	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12600909	0.91[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs12604037	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16945692	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs16945753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271576	0.90[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2278812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28654524	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3744434	0.90[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs3809753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3826419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4410139	0.84[EUR][1000 genomes]
rs4422036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4968408	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs4968451	0.90[CEU][hapmap];0.87[YRI][hapmap]
rs4968455	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs4968456	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs4968457	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs4968460	0.90[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4968461	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4968462	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4968463	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4968464	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4968467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968470	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968476	0.91[CEU][hapmap]
rs4988344	0.91[CEU][hapmap];0.87[YRI][hapmap]
rs56794817	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57137451	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57746689	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57918684	0.81[EUR][1000 genomes]
rs58241345	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58335059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58624595	0.83[AMR][1000 genomes]
rs59080342	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60053512	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469058	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61658218	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6504084	0.90[CEU][hapmap]
rs7218724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7221089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843781	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73332598	0.83[AMR][1000 genomes]
rs73334621	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73336436	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8080599	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs8081917	0.90[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes]
rs9630736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60059000-60088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60060400-60081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:60060400-60086800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:60060400-60088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:60060400-60090600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
13	chr17:60060400-60098800	Weak transcription	Gastric	stomach
14	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
15	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:60062400-60086400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
19	chr17:60067800-60086400	Weak transcription	HMEC	breast
20	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
21	chr17:60069400-60082600	Weak transcription	Brain Germinal Matrix	brain
22	chr17:60069400-60087000	Weak transcription	Left Ventricle	heart
23	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
24	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:60070200-60088000	Weak transcription	NHEK	skin
26	chr17:60070800-60086400	Weak transcription	Fetal Brain Female	brain
27	chr17:60071000-60083200	Weak transcription	Esophagus	oesophagus
28	chr17:60071600-60082800	Weak transcription	Lung	lung
29	chr17:60071800-60082000	Weak transcription	Thymus	Thymus
30	chr17:60071800-60082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:60072200-60081800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:60072400-60081800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:60072400-60082200	Weak transcription	Fetal Stomach	stomach
35	chr17:60072400-60082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:60072400-60082600	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:60072400-60087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
39	chr17:60072600-60081800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:60072600-60082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:60072600-60082400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:60072600-60082600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:60074000-60081800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:60074600-60088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
46	chr17:60074800-60086800	Weak transcription	HSMMtube	muscle
47	chr17:60074800-60087400	Weak transcription	Brain Angular Gyrus	brain
48	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:60075800-60083000	Weak transcription	NH-A	brain
50	chr17:60075800-60085200	Strong transcription	HepG2	liver

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