Variant report

Variant	rs73495598
Chromosome Location	chr11:34289425-34289426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34281972..34284178-chr11:34286435..34290431,3	K562	blood:
2	chr11:34286604..34290357-chr11:34293722..34296590,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2611115	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2755165	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2755166	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2755167	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497303	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34274000-34290400	Weak transcription	HSMMtube	muscle
2	chr11:34282800-34291400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:34283200-34290200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:34283600-34291800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:34285400-34290200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:34285400-34296400	Weak transcription	Gastric	stomach
7	chr11:34285400-34296400	Weak transcription	Right Ventricle	heart
8	chr11:34285600-34293200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:34285600-34296000	Weak transcription	Fetal Heart	heart
10	chr11:34285600-34296200	Weak transcription	Stomach Mucosa	stomach
11	chr11:34285600-34299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:34286000-34290400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:34286000-34292800	Weak transcription	Pancreas	Pancrea
14	chr11:34286200-34293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:34286200-34295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:34286400-34292400	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:34286600-34291600	Enhancers	Fetal Thymus	thymus
18	chr11:34286800-34296200	Weak transcription	Psoas Muscle	Psoas
19	chr11:34288000-34289600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:34288000-34291800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:34288400-34289600	Enhancers	Brain Hippocampus Middle	brain
22	chr11:34288600-34291400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:34288800-34290800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:34288800-34291200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:34288800-34295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:34289000-34289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:34289000-34290000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:34289000-34290000	Weak transcription	Placenta	Placenta
29	chr11:34289000-34290000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:34289000-34290200	Weak transcription	HSMM	muscle
31	chr11:34289000-34290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:34289000-34291000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:34289000-34291200	Enhancers	HepG2	liver
34	chr11:34289000-34292400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:34289000-34292600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:34289000-34292800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:34289000-34294800	Weak transcription	Right Atrium	heart
38	chr11:34289000-34295800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:34289000-34295800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:34289000-34295800	Weak transcription	HMEC	breast
41	chr11:34289000-34295800	Weak transcription	Osteobl	bone
42	chr11:34289000-34296200	Weak transcription	Left Ventricle	heart
43	chr11:34289000-34296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:34289000-34296400	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:34289000-34302600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:34289200-34290400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:34289200-34290400	Weak transcription	NH-A	brain
48	chr11:34289200-34295000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:34289200-34295000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:34289200-34295800	Weak transcription	Brain Substantia Nigra	brain

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