Variant report

Variant	rs60505578
Chromosome Location	chr11:72887149-72887150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:72886616-72887743	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:72886512-72887228	HepG2	liver:	n/a	n/a
3	TEAD4	chr11:72886371-72887188	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:72887102-72887636	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:72886572-72887231	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:72886562-72887206	HepG2	liver:	n/a	n/a
7	RAD21	chr11:72886668-72887705	HepG2	liver:	n/a	n/a
8	MYBL2	chr11:72886436-72887962	HepG2	liver:	n/a	n/a
9	MAFF	chr11:72886706-72887157	HepG2	liver:	n/a	chr11:72886984-72887002
10	BRCA1	chr11:72887147-72887260	HepG2	liver:	n/a	n/a
11	MAX	chr11:72887115-72887356	HepG2	liver:	n/a	n/a
12	MAX	chr11:72887146-72887746	NB4	blood:	n/a	n/a
13	POLR2A	chr11:72886524-72887806	HepG2	liver:	n/a	n/a
14	MTA3	chr11:72886932-72887589	GM12878	blood:	n/a	n/a
15	MAFK	chr11:72886677-72887175	HepG2	liver:	n/a	chr11:72886990-72887001 chr11:72886985-72887000
16	MAFK	chr11:72886806-72887159	HepG2	liver:	n/a	chr11:72886990-72887001 chr11:72886985-72887000
17	SMC3	chr11:72887024-72887444	GM12878	blood:	n/a	n/a
18	TBP	chr11:72886574-72887780	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72851233..72853353-chr11:72886371..72889138,2	MCF-7	breast:
2	chr11:72526100..72527930-chr11:72885676..72888595,2	K562	blood:

Variant related genes	Relation type
ENSG00000256568	TF binding region
ENSG00000137478	Chromatin interaction
ENSG00000168010	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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783585	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1791933	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57351800	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57854130	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58237213	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930305	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72880400-72889800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:72880600-72889600	Enhancers	GM12878-XiMat	blood
3	chr11:72881400-72888800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:72883000-72888000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:72883200-72888400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:72883600-72889200	Enhancers	Left Ventricle	heart
7	chr11:72883600-72889600	Enhancers	Right Atrium	heart
8	chr11:72883600-72890000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:72883800-72887800	Weak transcription	Colonic Mucosa	Colon
10	chr11:72883800-72889200	Enhancers	Fetal Muscle Leg	muscle
11	chr11:72883800-72889600	Enhancers	Ovary	ovary
12	chr11:72884000-72887600	Enhancers	Liver	Liver
13	chr11:72884200-72889400	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:72884200-72889600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:72884400-72889400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:72884600-72887200	Weak transcription	NHDF-Ad	bronchial
17	chr11:72884600-72889600	Enhancers	Pancreas	Pancrea
18	chr11:72885000-72888200	Weak transcription	Osteobl	bone
19	chr11:72885000-72888400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:72885200-72887200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:72885400-72887600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:72885400-72888600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:72885400-72888600	Weak transcription	Psoas Muscle	Psoas
24	chr11:72886000-72888800	Weak transcription	Gastric	stomach
25	chr11:72886000-72889200	Enhancers	HSMMtube	muscle
26	chr11:72886400-72887800	Enhancers	Stomach Mucosa	stomach
27	chr11:72886400-72888000	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:72886400-72889200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:72886400-72889600	Enhancers	Right Ventricle	heart
30	chr11:72886600-72887200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:72886600-72887600	Enhancers	Fetal Intestine Small	intestine
32	chr11:72886600-72887600	Enhancers	Fetal Kidney	kidney
33	chr11:72886600-72887600	Enhancers	NHLF	lung
34	chr11:72886600-72888200	Enhancers	Fetal Intestine Large	intestine
35	chr11:72886600-72888400	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:72886600-72888800	Enhancers	Brain Anterior Caudate	brain
37	chr11:72886600-72889200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:72886600-72889200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:72886600-72889200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:72886600-72889400	Enhancers	Adipose Nuclei	Adipose
41	chr11:72886600-72889400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr11:72886600-72889400	Flanking Active TSS	HepG2	liver
43	chr11:72886600-72889600	Enhancers	Placenta	Placenta
44	chr11:72886800-72887200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:72886800-72887200	Weak transcription	HUVEC	blood vessel
46	chr11:72886800-72887400	Enhancers	HSMM	muscle
47	chr11:72886800-72889600	Enhancers	Primary B cells from cord blood	blood
48	chr11:72886800-72889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:72886800-72889800	Enhancers	Spleen	Spleen
50	chr11:72887000-72887200	Flanking Active TSS	Fetal Heart	heart

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