Variant report

Variant	rs17065131
Chromosome Location	chr3:61623774-61623775
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56734753..56737927-chr3:61621064..61623984,6	MCF-7	breast:
2	chr17:56734576..56737757-chr3:61620422..61625373,6	MCF-7	breast:
3	chr3:61620655..61625316-chr3:61640653..61644936,5	MCF-7	breast:
4	chr17:56704810..56711827-chr3:61617461..61633126,28	MCF-7	breast:
5	chr17:56703125..56711935-chr3:61611656..61626888,27	MCF-7	breast:
6	chr17:56768260..56770134-chr3:61623021..61624941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13319699	1.00[AMR][1000 genomes]
rs13323186	1.00[AMR][1000 genomes]
rs13326667	1.00[AMR][1000 genomes]
rs17065124	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17065136	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28363967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886527	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55849951	1.00[AMR][1000 genomes]
rs6798529	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838832	1.00[AMR][1000 genomes]
rs73838834	1.00[AMR][1000 genomes]
rs9810357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9823399	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836164	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9839227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9839369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9868529	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9877032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9879138	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008615	chr3:61455419-61679037	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2756995	chr3:61569557-61636156	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv2759153	chr3:61569557-61636156	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv35004	chr3:61570149-61626426	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv822106	chr3:61577755-61631078	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv1001611	chr3:61598148-61686809	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1000158	chr3:61598562-61682888	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv834712	chr3:61612540-61770232	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61612000-61625600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:61613800-61625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:61615800-61625800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:61616000-61633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:61616400-61630200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:61616800-61633600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:61618800-61624800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:61619000-61626000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:61619200-61628000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:61619200-61630000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:61620600-61630200	Weak transcription	Fetal Kidney	kidney
12	chr3:61620800-61625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:61620800-61625800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:61622600-61623800	Flanking Active TSS	Fetal Heart	heart
15	chr3:61622600-61624200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:61622800-61623800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr3:61622800-61624000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:61622800-61624200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:61623000-61623800	Flanking Active TSS	Liver	Liver
20	chr3:61623000-61623800	Active TSS	Colonic Mucosa	Colon
21	chr3:61623000-61623800	Active TSS	Fetal Intestine Large	intestine
22	chr3:61623000-61623800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr3:61623000-61623800	Active TSS	Rectal Smooth Muscle	rectum
24	chr3:61623000-61624200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:61623000-61624400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:61623000-61625000	Enhancers	NH-A	brain
27	chr3:61623000-61625000	Enhancers	Osteobl	bone
28	chr3:61623000-61629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:61623200-61623800	Active TSS	Aorta	Aorta
30	chr3:61623200-61623800	Enhancers	Brain Anterior Caudate	brain
31	chr3:61623200-61624200	Active TSS	Colon Smooth Muscle	Colon
32	chr3:61623200-61628400	Weak transcription	HepG2	liver
33	chr3:61623400-61623800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:61623400-61623800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr3:61623400-61623800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr3:61623400-61623800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:61623400-61626000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:61623400-61626200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:61623400-61630600	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:61623600-61623800	Active TSS	Ovary	ovary
41	chr3:61623600-61624200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:61623600-61624200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:61623600-61624200	Enhancers	HSMM	muscle
44	chr3:61623600-61624800	Weak transcription	Adipose Nuclei	Adipose
45	chr3:61623600-61625000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:61623600-61625000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:61623600-61625000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:61623600-61625000	Enhancers	NHLF	lung
49	chr3:61623600-61625200	Enhancers	NHDF-Ad	bronchial
50	chr3:61623600-61626200	Weak transcription	Psoas Muscle	Psoas

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