Variant report

Variant	rs62272716
Chromosome Location	chr4:3530770-3530771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3493760..3497427-chr4:3530386..3532634,3	MCF-7	breast:
2	chr4:3529703..3532133-chr4:3955837..3958185,2	MCF-7	breast:
3	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
4	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251669	Chromatin interaction
ENSG00000175920	Chromatin interaction
ENSG00000253917	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10001975	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10014466	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13115353	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13116668	0.84[AMR][1000 genomes]
rs13117941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13129212	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13132186	0.84[AMR][1000 genomes]
rs13136935	0.81[AMR][1000 genomes]
rs13144301	0.81[AMR][1000 genomes]
rs13145720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28735586	0.84[AMR][1000 genomes]
rs34327156	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35369905	0.84[AMR][1000 genomes]
rs35725059	0.84[AMR][1000 genomes]
rs35748957	0.81[AMR][1000 genomes]
rs35886504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62272698	0.84[AMR][1000 genomes]
rs62272700	0.84[AMR][1000 genomes]
rs62272703	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71608284	0.84[AMR][1000 genomes]
rs71608285	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7661518	0.84[AMR][1000 genomes]
rs7680504	0.81[AMR][1000 genomes]
rs9999697	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv878465	chr4:3405165-3566567	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1791851	chr4:3407753-3534022	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1000383	chr4:3412585-3839781	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv878469	chr4:3413209-3566567	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv878470	chr4:3413209-3566567	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv878471	chr4:3413209-3884998	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	esv1816543	chr4:3414654-3942867	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv1001328	chr4:3421979-3654381	Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv967719	chr4:3429579-3535969	Genic enhancers Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv470004	chr4:3429856-3584373	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv1011554	chr4:3436478-3975772	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv537002	chr4:3436478-3975772	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
18	nsv878477	chr4:3438643-3584059	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv829840	chr4:3444216-3623031	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv878478	chr4:3447243-3566567	Bivalent Enhancer Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv1002774	chr4:3450810-3577017	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv1012371	chr4:3450810-3878976	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
23	nsv537003	chr4:3450810-3878976	Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
24	nsv998670	chr4:3453787-3909535	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	nsv878481	chr4:3461900-3566567	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv878482	chr4:3461900-3573260	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv878483	chr4:3461900-3683269	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
28	nsv1008394	chr4:3462618-3577017	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
29	nsv998512	chr4:3472878-3643547	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
30	nsv537004	chr4:3472878-3643547	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
31	nsv878486	chr4:3473139-3573260	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	nsv10426	chr4:3479490-3567710	Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	nsv878489	chr4:3481126-3566567	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
34	nsv878490	chr4:3485786-3566567	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	nsv432549	chr4:3487321-3975048	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
36	nsv878492	chr4:3494251-3536002	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
37	nsv878494	chr4:3494600-3566567	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
38	nsv878495	chr4:3496150-3536002	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
39	nsv829841	chr4:3502418-3663419	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
40	nsv1002558	chr4:3505290-3878976	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3494200-3533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3500600-3531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:3500600-3532000	Strong transcription	Thymus	Thymus
4	chr4:3501000-3531600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:3502000-3531600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:3502800-3531800	Strong transcription	Primary T cells from cord blood	blood
7	chr4:3503000-3531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:3503200-3531400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr4:3504000-3532400	Weak transcription	Hela-S3	cervix
10	chr4:3504200-3532200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:3505000-3532000	Weak transcription	Right Atrium	heart
12	chr4:3508600-3532600	Weak transcription	NHDF-Ad	bronchial
13	chr4:3510200-3531400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:3510200-3531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:3510200-3531600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:3511000-3531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:3512800-3531600	Weak transcription	Fetal Brain Male	brain
18	chr4:3513400-3532600	Weak transcription	Fetal Kidney	kidney
19	chr4:3515000-3531600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:3516000-3531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:3516200-3532600	Weak transcription	Psoas Muscle	Psoas
22	chr4:3518000-3531600	Strong transcription	HepG2	liver
23	chr4:3518000-3531800	Strong transcription	Fetal Intestine Large	intestine
24	chr4:3518400-3531400	Strong transcription	Fetal Intestine Small	intestine
25	chr4:3519400-3532200	Weak transcription	NH-A	brain
26	chr4:3520000-3531400	Strong transcription	Lung	lung
27	chr4:3521800-3532000	Weak transcription	HUVEC	blood vessel
28	chr4:3521800-3532800	Weak transcription	HSMMtube	muscle
29	chr4:3522000-3531600	Weak transcription	Stomach Mucosa	stomach
30	chr4:3522800-3532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:3525600-3533000	Weak transcription	A549	lung
32	chr4:3526600-3531200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:3526600-3532200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:3526800-3531400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:3526800-3531600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:3526800-3531800	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:3526800-3532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:3526800-3532400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:3526800-3532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:3526800-3532800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:3527000-3531200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:3527000-3532400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:3527000-3532800	Weak transcription	Aorta	Aorta
44	chr4:3527200-3531800	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:3527200-3532200	Weak transcription	Small Intestine	intestine
46	chr4:3527200-3532600	Weak transcription	Osteobl	bone
47	chr4:3528000-3531200	Weak transcription	HMEC	breast
48	chr4:3528200-3532800	Enhancers	Fetal Heart	heart
49	chr4:3528400-3530800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:3528400-3531600	Genic enhancers	Pancreas	Pancrea

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