Variant report

Variant	rs16945762
Chromosome Location	chr17:60076717-60076718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60076388..60082656-chr17:60092955..60097043,6	MCF-7	breast:
2	chr17:60073745..60080037-chr17:60141908..60144037,6	MCF-7	breast:
3	chr17:60075706..60078467-chr17:60142233..60143775,2	MCF-7	breast:
4	chr17:60068115..60069791-chr17:60076290..60078540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221302	Chromatin interaction
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10221202	0.96[ASN][1000 genomes]
rs1045196	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10512491	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12601229	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12601523	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12603627	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12603878	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs12937188	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16945665	0.85[JPT][hapmap]
rs16945670	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs16945724	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16945785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945823	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs2378946	0.82[AFR][1000 genomes]
rs28500646	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280312	0.86[ASN][1000 genomes]
rs7224854	0.82[ASN][1000 genomes]
rs72843746	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843758	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843759	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72843762	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72843767	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843769	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843770	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72843771	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72843772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843775	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843782	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843791	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843793	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843797	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843801	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845403	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845404	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845405	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845406	0.80[EUR][1000 genomes]
rs753765	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8081200	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs9910451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr17:60062400-60081600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:60062400-60086400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
20	chr17:60067400-60081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:60067800-60086400	Weak transcription	HMEC	breast
22	chr17:60068400-60081600	Weak transcription	Fetal Kidney	kidney
23	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
24	chr17:60069400-60082600	Weak transcription	Brain Germinal Matrix	brain
25	chr17:60069400-60087000	Weak transcription	Left Ventricle	heart
26	chr17:60069600-60077000	Weak transcription	Ovary	ovary
27	chr17:60069600-60081600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
29	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:60070000-60077600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:60070000-60081400	Weak transcription	Hela-S3	cervix
32	chr17:60070200-60088000	Weak transcription	NHEK	skin
33	chr17:60070800-60077200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:60070800-60086400	Weak transcription	Fetal Brain Female	brain
35	chr17:60071000-60083200	Weak transcription	Esophagus	oesophagus
36	chr17:60071600-60082800	Weak transcription	Lung	lung
37	chr17:60071800-60082000	Weak transcription	Thymus	Thymus
38	chr17:60071800-60082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:60072000-60077200	Weak transcription	GM12878-XiMat	blood
40	chr17:60072200-60081800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:60072400-60081800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:60072400-60082200	Weak transcription	Fetal Stomach	stomach
44	chr17:60072400-60082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:60072400-60082600	Weak transcription	Fetal Muscle Leg	muscle
46	chr17:60072400-60087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
48	chr17:60072600-60077000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:60072600-60077200	Weak transcription	Fetal Intestine Large	intestine
50	chr17:60072600-60077200	Weak transcription	Fetal Thymus	thymus

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