Variant report

Variant	rs60473152
Chromosome Location	chr3:61610215-61610216
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:61609621..61617311-chr3:61628614..61634388,16	MCF-7	breast:
2	chr3:61608730..61611507-chr3:61629104..61631590,2	MCF-7	breast:
3	chr17:56649570..56655387-chr3:61609668..61616460,11	MCF-7	breast:
4	chr17:56730838..56733120-chr3:61609560..61612509,2	MCF-7	breast:
5	chr3:61609497..61611951-chr3:61642705..61644656,2	MCF-7	breast:
6	chr17:56643281..56645714-chr3:61608376..61611221,2	MCF-7	breast:
7	chr17:56734668..56738970-chr3:61603973..61616839,24	MCF-7	breast:
8	chr17:56635071..56649233-chr3:61603708..61615718,44	MCF-7	breast:
9	chr17:56707443..56710525-chr3:61604154..61615875,21	MCF-7	breast:
10	chr17:56735102..56739393-chr3:61610159..61616019,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4390920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs56917130	0.97[AFR][1000 genomes]
rs57484041	0.98[AFR][1000 genomes]
rs57490914	0.97[AFR][1000 genomes]
rs57929835	0.98[AFR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58325144	1.00[AFR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs59639668	0.92[AFR][1000 genomes]
rs59716534	1.00[AFR][1000 genomes]
rs60197600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60197976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6801604	1.00[AMR][1000 genomes]
rs6805288	1.00[AMR][1000 genomes]
rs72874738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874755	0.95[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	0.98[AFR][1000 genomes]
rs7637818	0.95[AFR][1000 genomes]
rs7640772	1.00[AMR][1000 genomes]
rs9878929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834711	chr3:61413762-61612539	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61581400-61612200	Weak transcription	NHLF	lung
2	chr3:61581400-61613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:61586400-61614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:61587000-61611400	Weak transcription	HepG2	liver
5	chr3:61592800-61619800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:61598200-61612200	Weak transcription	NHDF-Ad	bronchial
7	chr3:61598400-61611200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:61598800-61623200	Weak transcription	Aorta	Aorta
9	chr3:61601000-61611600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:61602800-61613200	Weak transcription	NH-A	brain
11	chr3:61603000-61612200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:61603000-61612200	Weak transcription	Lung	lung
13	chr3:61603000-61613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:61603000-61613600	Weak transcription	Right Ventricle	heart
15	chr3:61603000-61614200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:61603000-61620000	Weak transcription	Left Ventricle	heart
17	chr3:61603200-61613000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:61603200-61613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:61603200-61623400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:61603400-61610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:61603400-61612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:61603400-61612200	Weak transcription	Right Atrium	heart
23	chr3:61603400-61613400	Weak transcription	Fetal Lung	lung
24	chr3:61603400-61613400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:61603400-61613600	Weak transcription	Fetal Kidney	kidney
26	chr3:61603400-61615400	Weak transcription	HSMMtube	muscle
27	chr3:61603400-61620400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:61603400-61622600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:61603600-61612000	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:61603600-61622800	Weak transcription	Ovary	ovary
31	chr3:61603800-61612200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:61604200-61612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:61604600-61611800	Weak transcription	Fetal Brain Male	brain
34	chr3:61605800-61610600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:61607600-61610400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:61607600-61612400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:61607800-61610600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:61608200-61610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:61608600-61610600	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:61608600-61611800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:61609000-61610400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:61609600-61610600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:61609600-61612400	Weak transcription	Fetal Heart	heart
44	chr3:61609800-61610600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:61609800-61611200	Weak transcription	Psoas Muscle	Psoas
46	chr3:61609800-61612600	Weak transcription	HSMM	muscle
47	chr3:61609800-61613000	Weak transcription	NHEK	skin
48	chr3:61610000-61611400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:61610200-61610400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:61610200-61610400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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