Variant report

Variant	rs11823994
Chromosome Location	chr11:75083588-75083589
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75071158..75073048-chr11:75082961..75084761,2	MCF-7	breast:
2	chr11:75083067..75087216-chr11:75110418..75113000,3	MCF-7	breast:
3	chr11:75077164..75078876-chr11:75082992..75084956,2	MCF-7	breast:
4	chr11:75045542..75048655-chr11:75083348..75085399,3	MCF-7	breast:
5	chr11:74990992..74994915-chr11:75082766..75086494,3	K562	blood:
6	chr11:75053225..75057197-chr11:75082707..75085103,4	MCF-7	breast:
7	chr11:75067230..75070089-chr11:75082011..75083842,2	MCF-7	breast:
8	chr11:75076999..75080604-chr11:75081592..75085575,3	MCF-7	breast:
9	chr11:75060299..75064917-chr11:75081328..75085491,12	MCF-7	breast:
10	chr11:75064179..75065852-chr11:75082036..75083611,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000137486	Chromatin interaction
ENSG00000199090	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11236370	1.00[ASN][1000 genomes]
rs11824884	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365307	1.00[ASN][1000 genomes]
rs17310905	1.00[ASN][1000 genomes]
rs34281218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944078	1.00[ASN][1000 genomes]
rs4945006	1.00[ASN][1000 genomes]
rs56335064	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61499806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131128	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492857	0.84[AMR][1000 genomes];0.96[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75080600-75083600	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:75081200-75083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:75081200-75084000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:75081200-75086600	Weak transcription	Gastric	stomach
6	chr11:75081200-75095200	Weak transcription	Dnd41	blood
7	chr11:75081400-75083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:75082400-75084200	Enhancers	Fetal Stomach	stomach
10	chr11:75082400-75084600	Enhancers	Colonic Mucosa	Colon
11	chr11:75082600-75083600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:75082600-75084200	Enhancers	Fetal Intestine Small	intestine
13	chr11:75082600-75084600	Enhancers	Fetal Intestine Large	intestine
14	chr11:75082600-75084600	Enhancers	HepG2	liver
15	chr11:75082800-75083600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:75082800-75084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:75082800-75084000	Enhancers	K562	blood
18	chr11:75082800-75084200	Flanking Active TSS	A549	lung
19	chr11:75082800-75085000	Enhancers	Stomach Mucosa	stomach
20	chr11:75082800-75087600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:75083000-75083600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:75083000-75083600	Enhancers	NHLF	lung
23	chr11:75083000-75083800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:75083000-75083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:75083000-75083800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:75083000-75083800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:75083000-75083800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:75083000-75083800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:75083000-75083800	Enhancers	Esophagus	oesophagus
30	chr11:75083000-75083800	Enhancers	Fetal Lung	lung
31	chr11:75083000-75083800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:75083000-75083800	Enhancers	Right Atrium	heart
33	chr11:75083000-75083800	Flanking Active TSS	Hela-S3	cervix
34	chr11:75083000-75083800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:75083000-75084000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:75083000-75084000	Enhancers	Liver	Liver
37	chr11:75083000-75084000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:75083000-75087800	Enhancers	Placenta	Placenta
39	chr11:75083200-75083600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:75083200-75083600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:75083200-75083600	Active TSS	Duodenum Mucosa	Duodenum
42	chr11:75083200-75083600	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr11:75083200-75083800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:75083200-75083800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:75083200-75083800	Enhancers	Adipose Nuclei	Adipose
46	chr11:75083200-75083800	Enhancers	HSMM	muscle
47	chr11:75083200-75083800	Enhancers	HUVEC	blood vessel
48	chr11:75083200-75084000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:75083200-75084200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:75083400-75083600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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