Variant report

Variant	rs72865406
Chromosome Location	chr2:30885399-30885400
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 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	chr2:30870789..30872377-chr2:30883033..30885539,2	K562	blood:
6	chr2:30798884..30802949-chr2:30883124..30885929,3	K562	blood:
7	chr2:30884239..30886249-chr2:31553808..31556092,2	K562	blood:
8	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:
9	chr2:30444710..30446228-chr2:30884155..30887092,2	K562	blood:
10	chr2:30399459..30401854-chr2:30884024..30885682,2	K562	blood:
11	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
12	chr2:30858684..30861257-chr2:30883549..30886042,2	K562	blood:
13	chr2:30367659..30374932-chr2:30881778..30885406,8	K562	blood:
14	chr2:30884077..30887138-chr2:30917799..30920248,4	K562	blood:
15	chr2:30415995..30419383-chr2:30883156..30885905,4	K562	blood:
16	chr2:30858047..30861257-chr2:30883549..30886164,4	K562	blood:
17	chr2:30451185..30455751-chr2:30882911..30886085,6	K562	blood:
18	chr2:30566651..30569438-chr2:30883515..30885753,2	K562	blood:
19	chr2:30781703..30783651-chr2:30884243..30886243,2	K562	blood:
20	chr2:30883151..30886759-chr2:30927667..30934469,9	K562	blood:
21	chr2:30591422..30593003-chr2:30883538..30886238,2	K562	blood:
22	chr2:30884451..30886739-chr2:30899746..30902307,4	K562	blood:
23	chr2:30414606..30417729-chr2:30883474..30885497,4	K562	blood:
24	chr2:30428120..30430115-chr2:30884462..30886351,3	K562	blood:
25	chr2:30430543..30432958-chr2:30883040..30885819,3	K562	blood:
26	chr2:30384606..30386933-chr2:30884491..30886230,2	K562	blood:
27	chr2:30700466..30702645-chr2:30883223..30885450,2	MCF-7	breast:
28	chr2:30885114..30887273-chr2:30896236..30898682,2	K562	blood:
29	chr2:30882862..30887095-chr2:30947474..30950247,3	K562	blood:
30	chr2:30883186..30886745-chr2:30927667..30931555,5	K562	blood:
31	chr2:30885089..30887091-chr2:30887227..30889591,3	MCF-7	breast:
32	chr2:30883644..30885923-chr2:30925471..30927610,3	K562	blood:
33	chr2:30880506..30884511-chr2:30884775..30887902,3	MCF-7	breast:
34	chr2:30474581..30476243-chr2:30884375..30886105,2	K562	blood:
35	chr2:30387277..30390293-chr2:30882898..30886661,5	K562	blood:
36	chr2:30809203..30812832-chr2:30884056..30887264,3	K562	blood:
37	chr2:30883186..30885923-chr2:30925471..30927270,4	K562	blood:
38	chr2:30369427..30373091-chr2:30882442..30885775,4	K562	blood:
39	chr2:30884077..30886953-chr2:30917137..30920248,5	K562	blood:
40	chr2:30883581..30886486-chr2:30904225..30906593,3	K562	blood:
41	chr2:30456156..30458365-chr2:30884031..30885869,2	K562	blood:
42	chr2:30617042..30618838-chr2:30884589..30886329,2	K562	blood:
43	chr2:30767176..30771921-chr2:30882806..30885621,6	K562	blood:
44	chr2:30883087..30885575-chr2:30964088..30967070,2	K562	blood:
45	chr2:30842415..30844831-chr2:30884004..30885888,2	K562	blood:
46	chr2:30449306..30452685-chr2:30883072..30886056,3	K562	blood:
47	chr2:30452927..30460460-chr2:30881899..30886122,8	K562	blood:
48	chr2:30388130..30392158-chr2:30882898..30886661,6	K562	blood:
49	chr2:30883675..30885806-chr2:30990961..30993056,2	K562	blood:
50	chr2:30884154..30887664-chr2:30907085..30910556,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000162949	Chromatin interaction
ENSG00000231712	Chromatin interaction
ENSG00000213626	Chromatin interaction
ENSG00000207187	Chromatin interaction
ENSG00000172954	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]
rs72865407	0.90[AFR][1000 genomes]
rs72865413	0.86[AFR][1000 genomes]
rs72865427	0.87[AFR][1000 genomes]
rs72865432	0.87[AFR][1000 genomes]
rs7582446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30879400-30885400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:30881000-30885400	Weak transcription	HSMM	muscle
3	chr2:30881600-30885600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:30882800-30889600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:30883600-30887400	Enhancers	HSMMtube	muscle
6	chr2:30883600-30890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:30883800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:30884000-30889000	Weak transcription	Psoas Muscle	Psoas
9	chr2:30884400-30886600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:30884400-30890000	Enhancers	NHDF-Ad	bronchial
11	chr2:30884600-30885400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30884600-30885800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:30884600-30888000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:30884600-30888200	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:30884600-30889400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:30884600-30889600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:30884800-30885600	Enhancers	Fetal Intestine Small	intestine
18	chr2:30884800-30886000	Enhancers	Fetal Intestine Large	intestine
19	chr2:30884800-30886400	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:30884800-30886600	Enhancers	Fetal Stomach	stomach
21	chr2:30884800-30887200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:30884800-30889200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:30885000-30886200	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:30885200-30886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:30885200-30886400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:30885200-30887200	Enhancers	NHLF	lung
27	chr2:30885200-30887400	Enhancers	NH-A	brain
28	chr2:30885200-30889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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