Variant report

Variant	rs72874749
Chromosome Location	chr3:61613021-61613022
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57914164..57917055-chr3:61612904..61615627,4	MCF-7	breast:
2	chr19:42756346..42758374-chr3:61612171..61614717,2	MCF-7	breast:
3	chr3:61609621..61617311-chr3:61628614..61634388,16	MCF-7	breast:
4	chr17:56637862..56640492-chr3:61612805..61615366,3	MCF-7	breast:
5	chr17:56671169..56673208-chr3:61611941..61613573,2	MCF-7	breast:
6	chr17:56649570..56655387-chr3:61609668..61616460,11	MCF-7	breast:
7	chr3:61611728..61614582-chr3:61688130..61691017,3	MCF-7	breast:
8	chr3:61612275..61614710-chr3:61668214..61670178,2	MCF-7	breast:
9	chr17:56726675..56729447-chr3:61611822..61614442,2	MCF-7	breast:
10	chr3:61612690..61615285-chr3:61634905..61638898,3	MCF-7	breast:
11	chr17:56734668..56738970-chr3:61603973..61616839,24	MCF-7	breast:
12	chr17:57922105..57925001-chr3:61610835..61613276,2	MCF-7	breast:
13	chr17:56635071..56649233-chr3:61603708..61615718,44	MCF-7	breast:
14	chr17:56707443..56710525-chr3:61604154..61615875,21	MCF-7	breast:
15	chr17:56703125..56711935-chr3:61611656..61626888,27	MCF-7	breast:
16	chr17:56735102..56739393-chr3:61610159..61616019,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105722	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs4390920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs56917130	0.92[AFR][1000 genomes]
rs57484041	0.93[AFR][1000 genomes]
rs57490914	0.92[AFR][1000 genomes]
rs57929835	0.93[AFR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58325144	0.95[AFR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs59639668	0.87[AFR][1000 genomes]
rs59716534	0.95[AFR][1000 genomes]
rs60197600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60197976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60473152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6801604	1.00[AMR][1000 genomes]
rs6805288	1.00[AMR][1000 genomes]
rs72874738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888670	1.00[AMR][1000 genomes]
rs72888675	1.00[AMR][1000 genomes]
rs72888676	1.00[AMR][1000 genomes]
rs72888678	1.00[AMR][1000 genomes]
rs72890425	0.93[AFR][1000 genomes]
rs7637818	0.90[AFR][1000 genomes]
rs7640772	1.00[AMR][1000 genomes]
rs9878929	1.00[AMR][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	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	esv1800730	chr3:61599495-61620573	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3463358	chr3:61610515-61615945	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv3463359	chr3:61610515-61615945	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61581400-61613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:61586400-61614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:61592800-61619800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:61598800-61623200	Weak transcription	Aorta	Aorta
5	chr3:61602800-61613200	Weak transcription	NH-A	brain
6	chr3:61603000-61613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:61603000-61613600	Weak transcription	Right Ventricle	heart
8	chr3:61603000-61614200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:61603000-61620000	Weak transcription	Left Ventricle	heart
10	chr3:61603200-61613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:61603200-61623400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:61603400-61613400	Weak transcription	Fetal Lung	lung
13	chr3:61603400-61613400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:61603400-61613600	Weak transcription	Fetal Kidney	kidney
15	chr3:61603400-61615400	Weak transcription	HSMMtube	muscle
16	chr3:61603400-61620400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:61603400-61622600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:61603600-61622800	Weak transcription	Ovary	ovary
19	chr3:61610200-61613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:61610200-61615800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:61610400-61613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:61610600-61613600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:61610600-61613800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:61610600-61613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:61610800-61613800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:61611200-61613600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:61611200-61615800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:61611400-61613600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:61611400-61614400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:61611400-61616400	Enhancers	HepG2	liver
31	chr3:61611800-61615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:61612000-61613800	Enhancers	Colon Smooth Muscle	Colon
33	chr3:61612000-61616200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:61612000-61625600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:61612200-61613800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:61612200-61614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:61612200-61615600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:61612200-61615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:61612200-61615600	Enhancers	NHDF-Ad	bronchial
40	chr3:61612200-61618600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:61612400-61613800	Enhancers	Fetal Heart	heart
42	chr3:61612400-61618600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:61612600-61613400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:61612600-61613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:61612600-61613800	Weak transcription	Psoas Muscle	Psoas
46	chr3:61612600-61614000	Enhancers	Adipose Nuclei	Adipose
47	chr3:61612600-61614400	Enhancers	Liver	Liver
48	chr3:61612600-61616200	Enhancers	HSMM	muscle
49	chr3:61612600-61616200	Enhancers	Osteobl	bone
50	chr3:61612600-61622200	Weak transcription	Right Atrium	heart

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