Variant report

Variant	rs73497013
Chromosome Location	chr11:75204825-75204826
allele	C/T
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	CEBPB	chr11:75204796-75204904	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75109850..75112062-chr11:75204799..75207466,2	K562	blood:
2	chr11:75203200..75205117-chr11:75206279..75208422,2	MCF-7	breast:
3	chr11:75186423..75188493-chr11:75202325..75205145,2	K562	blood:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11236443	1.00[EUR][1000 genomes]
rs17133983	1.00[EUR][1000 genomes]
rs58745525	1.00[EUR][1000 genomes]
rs59219139	1.00[EUR][1000 genomes]
rs7116757	1.00[EUR][1000 genomes]
rs73494841	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494855	1.00[EUR][1000 genomes]
rs73494859	1.00[EUR][1000 genomes]
rs73494864	1.00[EUR][1000 genomes]
rs73494869	1.00[EUR][1000 genomes]
rs73494875	1.00[EUR][1000 genomes]
rs73494876	1.00[EUR][1000 genomes]
rs73494878	1.00[EUR][1000 genomes]
rs73494879	1.00[EUR][1000 genomes]
rs73494881	1.00[EUR][1000 genomes]
rs7933166	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
2	chr11:75199400-75207000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:75199400-75209800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
5	chr11:75201400-75207000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:75201800-75206800	Weak transcription	HepG2	liver
7	chr11:75202000-75207000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:75202000-75207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:75202200-75207000	Weak transcription	HSMMtube	muscle
10	chr11:75202200-75207200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:75202200-75208800	Weak transcription	HSMM	muscle
12	chr11:75202400-75210000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:75202600-75206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:75202600-75207000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:75203400-75205600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:75203400-75207000	Weak transcription	Psoas Muscle	Psoas
17	chr11:75203600-75206600	Weak transcription	A549	lung
18	chr11:75203600-75206800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:75203600-75206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:75203600-75206800	Weak transcription	Placenta	Placenta
21	chr11:75203600-75206800	Weak transcription	Lung	lung
22	chr11:75203600-75207000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:75203600-75207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:75203600-75207200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:75203600-75209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75203800-75206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:75203800-75206800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:75203800-75206800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75203800-75207000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:75203800-75207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:75203800-75207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:75203800-75207200	Weak transcription	HUVEC	blood vessel
33	chr11:75203800-75208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:75203800-75208800	Weak transcription	Hela-S3	cervix
35	chr11:75203800-75209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:75203800-75209200	Weak transcription	HMEC	breast
37	chr11:75203800-75209800	Weak transcription	K562	blood
38	chr11:75203800-75210800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:75203800-75210800	Weak transcription	Colonic Mucosa	Colon
40	chr11:75203800-75217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:75203800-75219200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:75204000-75216600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:75204200-75213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:75204400-75207000	Weak transcription	Fetal Brain Male	brain
45	chr11:75204400-75210600	Weak transcription	Spleen	Spleen
46	chr11:75204600-75207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:75204800-75205200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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