Variant report

Variant	rs7582446
Chromosome Location	chr2:30884216-30884217
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:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:30883787..30887664-chr2:30907085..30909413,4	K562	blood:
2	chr2:30418416..30423265-chr2:30882733..30886133,4	K562	blood:
3	chr2:30410152..30414990-chr2:30883111..30886587,5	K562	blood:
4	chr2:30632868..30636418-chr2:30882716..30885684,3	K562	blood:
5	chr2:30880506..30884511-chr2:30884775..30887902,3	MCF-7	breast:
6	chr2:30870789..30872377-chr2:30883033..30885539,2	K562	blood:
7	chr2:30669074..30671673-chr2:30882953..30884590,2	K562	blood:
8	chr2:30714704..30716589-chr2:30882224..30884940,2	K562	blood:
9	chr2:30798884..30802949-chr2:30883124..30885929,3	K562	blood:
10	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:
11	chr2:30444710..30446228-chr2:30884155..30887092,2	K562	blood:
12	chr2:30767176..30771418-chr2:30882472..30885159,3	K562	blood:
13	chr2:30399459..30401854-chr2:30884024..30885682,2	K562	blood:
14	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
15	chr2:30858684..30861257-chr2:30883549..30886042,2	K562	blood:
16	chr2:30644068..30646779-chr2:30882858..30884362,2	K562	blood:
17	chr2:30367659..30374932-chr2:30881778..30885406,8	K562	blood:
18	chr2:30884077..30887138-chr2:30917799..30920248,4	K562	blood:
19	chr2:30415995..30419383-chr2:30883156..30885905,4	K562	blood:
20	chr2:30858047..30861257-chr2:30883549..30886164,4	K562	blood:
21	chr2:30451185..30455751-chr2:30882911..30886085,6	K562	blood:
22	chr2:30566651..30569438-chr2:30883515..30885753,2	K562	blood:
23	chr2:30461744..30464187-chr2:30883042..30884616,2	K562	blood:
24	chr2:30883151..30886759-chr2:30927667..30934469,9	K562	blood:
25	chr2:30591422..30593003-chr2:30883538..30886238,2	K562	blood:
26	chr2:30560471..30562359-chr2:30883294..30885209,2	K562	blood:
27	chr2:30414606..30417729-chr2:30883474..30885497,4	K562	blood:
28	chr2:30354443..30356927-chr2:30882415..30884696,2	K562	blood:
29	chr2:30430543..30432958-chr2:30883040..30885819,3	K562	blood:
30	chr2:30700466..30702645-chr2:30883223..30885450,2	MCF-7	breast:
31	chr2:30882862..30887095-chr2:30947474..30950247,3	K562	blood:
32	chr2:30666695..30668837-chr2:30882273..30884825,2	K562	blood:
33	chr2:30883186..30886745-chr2:30927667..30931555,5	K562	blood:
34	chr2:30883644..30885923-chr2:30925471..30927610,3	K562	blood:
35	chr2:30378363..30381042-chr2:30882715..30884793,2	K562	blood:
36	chr2:30387277..30390293-chr2:30882898..30886661,5	K562	blood:
37	chr2:30809203..30812832-chr2:30884056..30887264,3	K562	blood:
38	chr2:30792640..30794473-chr2:30882376..30885137,2	K562	blood:
39	chr2:30883653..30885273-chr2:30931835..30933345,2	K562	blood:
40	chr2:30883186..30885923-chr2:30925471..30927270,4	K562	blood:
41	chr2:30369427..30373091-chr2:30882442..30885775,4	K562	blood:
42	chr2:30884077..30886953-chr2:30917137..30920248,5	K562	blood:
43	chr2:30883581..30886486-chr2:30904225..30906593,3	K562	blood:
44	chr2:30456156..30458365-chr2:30884031..30885869,2	K562	blood:
45	chr2:30767176..30771921-chr2:30882806..30885621,6	K562	blood:
46	chr2:30883087..30885575-chr2:30964088..30967070,2	K562	blood:
47	chr2:30470318..30472928-chr2:30883308..30885388,2	K562	blood:
48	chr2:30842415..30844831-chr2:30884004..30885888,2	K562	blood:
49	chr2:30449306..30452685-chr2:30883072..30886056,3	K562	blood:
50	chr2:30452927..30460460-chr2:30881899..30886122,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction
ENSG00000231712	Chromatin interaction
ENSG00000207187	Chromatin interaction
ENSG00000172954	Chromatin interaction
ENSG00000162949	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs60449073	1.00[EUR][1000 genomes]
rs6739240	1.00[EUR][1000 genomes]
rs6748456	1.00[EUR][1000 genomes]
rs72856612	1.00[EUR][1000 genomes]
rs72856616	1.00[EUR][1000 genomes]
rs72856621	1.00[EUR][1000 genomes]
rs72856644	1.00[EUR][1000 genomes]
rs72856659	1.00[EUR][1000 genomes]
rs72856689	1.00[EUR][1000 genomes]
rs72859002	1.00[EUR][1000 genomes]
rs72863023	1.00[EUR][1000 genomes]
rs72863101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865407	0.90[AFR][1000 genomes]
rs72865413	0.86[AFR][1000 genomes]
rs72865427	0.87[AFR][1000 genomes]
rs72865432	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30879000-30884600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:30879200-30884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:30879200-30884600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:30879400-30884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:30879400-30885400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:30879800-30884400	Weak transcription	NHDF-Ad	bronchial
7	chr2:30881000-30885400	Weak transcription	HSMM	muscle
8	chr2:30881600-30885600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30882800-30889600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:30883600-30887400	Enhancers	HSMMtube	muscle
11	chr2:30883600-30890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:30883800-30885000	Enhancers	K562	blood
13	chr2:30883800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:30884000-30889000	Weak transcription	Psoas Muscle	Psoas
15	chr2:30884200-30884800	Weak transcription	Fetal Stomach	stomach

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