Variant report

Variant	rs57854130
Chromosome Location	chr11:72889613-72889614
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	chr11:72539749..72540642-chr11:72889068..72889823,2	K562	blood:
2	chr11:72888536..72892763-chr11:72896055..72898678,3	MCF-7	breast:
3	chr11:72436199..72436919-chr11:72888860..72889921,4	K562	blood:
4	chr11:72559800..72560329-chr11:72888830..72889720,2	MCF-7	breast:
5	chr11:72889232..72889777-chr11:72953408..72954073,2	K562	blood:
6	chr11:72435955..72436854-chr11:72889198..72889710,2	MCF-7	breast:
7	chr11:72542645..72543678-chr11:72888974..72889768,3	MCF-7	breast:
8	chr11:72436037..72436995-chr11:72888881..72889742,2	MCF-7	breast:
9	chr11:72542141..72543239-chr11:72888709..72890185,13	MCF-7	breast:
10	chr11:72635311..72636425-chr11:72888571..72889736,11	MCF-7	breast:
11	chr11:72558950..72560859-chr11:72888092..72889897,2	MCF-7	breast:
12	chr11:72394488..72395414-chr11:72889125..72889716,2	K562	blood:
13	chr11:72543826..72544567-chr11:72888841..72889715,2	K562	blood:
14	chr11:72541701..72543210-chr11:72888821..72890263,10	K562	blood:
15	chr11:72851682..72854507-chr11:72889199..72890739,2	MCF-7	breast:
16	chr11:72635338..72636290-chr11:72888988..72889906,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12576740	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1783585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791933	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57351800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58237213	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60505578	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7930305	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72880400-72889800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:72883600-72890000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:72886800-72889800	Enhancers	Spleen	Spleen
4	chr11:72887200-72889800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:72887400-72889800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:72887600-72893600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:72888800-72899400	Weak transcription	Aorta	Aorta
8	chr11:72889000-72894200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:72889000-72896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:72889200-72893600	Weak transcription	Fetal Intestine Large	intestine
11	chr11:72889200-72893600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:72889200-72894000	Weak transcription	Colonic Mucosa	Colon
13	chr11:72889200-72894400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:72889200-72896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:72889200-72896000	Weak transcription	NH-A	brain
16	chr11:72889200-72896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:72889200-72896200	Weak transcription	Gastric	stomach
18	chr11:72889400-72893400	Weak transcription	Fetal Heart	heart
19	chr11:72889400-72893600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:72889400-72893800	Weak transcription	NHEK	skin
21	chr11:72889400-72896200	Weak transcription	Hela-S3	cervix
22	chr11:72889600-72889800	Bivalent Enhancer	HepG2	liver
23	chr11:72889600-72892200	Weak transcription	Right Atrium	heart
24	chr11:72889600-72893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:72889600-72893600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:72889600-72893600	Weak transcription	Ovary	ovary
27	chr11:72889600-72893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:72889600-72893800	Weak transcription	Pancreas	Pancrea
29	chr11:72889600-72895800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:72889600-72896000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:72889600-72896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:72889600-72896600	Weak transcription	Right Ventricle	heart

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