Variant report

Variant	rs2298573
Chromosome Location	chr11:74303850-74303851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74303751..74305512-chr11:74357483..74359321,2	MCF-7	breast:
2	chr11:74203150..74205819-chr11:74301632..74306352,4	MCF-7	breast:
3	chr11:74203316..74206013-chr11:74301160..74305311,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12807883	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34450669	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34601749	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35167458	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35500564	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35778922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36009269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944902	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4944903	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4944905	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57365763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67575589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116713	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7119905	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71465929	0.89[EUR][1000 genomes];0.85[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv897914	chr11:74266026-74327614	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv897915	chr11:74269817-74327614	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74302600-74304200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:74302600-74304800	Active TSS	Fetal Kidney	kidney
3	chr11:74302800-74304200	Active TSS	Brain Cingulate Gyrus	brain
4	chr11:74302800-74304200	Active TSS	Brain Hippocampus Middle	brain
5	chr11:74302800-74304200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:74302800-74304200	Active TSS	HSMMtube	muscle
7	chr11:74302800-74304400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:74302800-74304400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:74302800-74304400	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:74302800-74304600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:74302800-74304600	Active TSS	Ovary	ovary
12	chr11:74302800-74304800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:74302800-74304800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:74302800-74304800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:74302800-74304800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:74302800-74305200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:74303000-74304200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:74303000-74304200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:74303000-74304200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:74303000-74304200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:74303000-74304200	Active TSS	NH-A	brain
22	chr11:74303000-74304400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:74303000-74304400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:74303000-74304400	Active TSS	Aorta	Aorta
25	chr11:74303000-74304400	Active TSS	Brain Angular Gyrus	brain
26	chr11:74303000-74304400	Active TSS	Fetal Intestine Small	intestine
27	chr11:74303000-74304400	Active TSS	Fetal Lung	lung
28	chr11:74303000-74304400	Active TSS	Right Atrium	heart
29	chr11:74303000-74304400	Active TSS	GM12878-XiMat	blood
30	chr11:74303000-74304600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:74303000-74304600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:74303000-74304600	Active TSS	Right Ventricle	heart
33	chr11:74303000-74304800	Active TSS	Fetal Intestine Large	intestine
34	chr11:74303000-74304800	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:74303000-74304800	Active TSS	Pancreas	Pancrea
36	chr11:74303000-74304800	Active TSS	Psoas Muscle	Psoas
37	chr11:74303000-74305000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:74303000-74305000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:74303000-74305200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:74303200-74304000	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:74303200-74304000	Active TSS	Primary B cells from cord blood	blood
42	chr11:74303200-74304200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:74303200-74304200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:74303200-74304200	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:74303200-74304200	Active TSS	Colon Smooth Muscle	Colon
46	chr11:74303200-74304200	Active TSS	Fetal Brain Male	brain
47	chr11:74303200-74304200	Active TSS	Fetal Muscle Leg	muscle
48	chr11:74303200-74304200	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:74303200-74304200	Active TSS	Thymus	Thymus
50	chr11:74303200-74304200	Bivalent/Poised TSS	HepG2	liver

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