Variant report

Variant	rs2278735
Chromosome Location	chr11:18742372-18742373
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	chr11:18741015..18744617-chr11:18749870..18752348,3	K562	blood:
2	chr11:18725792..18727506-chr11:18741119..18743990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110786	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11024770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417433	0.98[ASN][1000 genomes]
rs12418990	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35185666	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1047371	chr11:18731473-18763037	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18728600-18742600	Weak transcription	Aorta	Aorta
2	chr11:18728800-18742400	Weak transcription	Fetal Kidney	kidney
3	chr11:18741400-18742400	Enhancers	Fetal Intestine Large	intestine
4	chr11:18741600-18742400	Enhancers	Brain Angular Gyrus	brain
5	chr11:18741600-18742400	Enhancers	Fetal Muscle Leg	muscle
6	chr11:18741600-18742800	Enhancers	Small Intestine	intestine
7	chr11:18741800-18742400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:18741800-18742400	Enhancers	Colon Smooth Muscle	Colon
9	chr11:18741800-18742400	Enhancers	Fetal Stomach	stomach
10	chr11:18741800-18742600	Bivalent Enhancer	HepG2	liver
11	chr11:18742000-18742400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:18742000-18742400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:18742000-18742400	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:18742000-18742400	Enhancers	Fetal Brain Female	brain
15	chr11:18742000-18742400	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:18742000-18743800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:18742000-18744000	Active TSS	Fetal Brain Male	brain
18	chr11:18742200-18742400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:18742200-18742400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:18742200-18742400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:18742200-18742400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr11:18742200-18742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:18742200-18742400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr11:18742200-18742400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:18742200-18742400	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:18742200-18742400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:18742200-18742400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:18742200-18742400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:18742200-18742400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:18742200-18742400	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:18742200-18742400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:18742200-18742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:18742200-18742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:18742200-18742400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:18742200-18742400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:18742200-18742400	Enhancers	Brain Anterior Caudate	brain
37	chr11:18742200-18742400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr11:18742200-18742400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:18742200-18742400	Active TSS	Brain Substantia Nigra	brain
40	chr11:18742200-18742400	Enhancers	Colonic Mucosa	Colon
41	chr11:18742200-18742400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:18742200-18742400	Enhancers	Fetal Heart	heart
43	chr11:18742200-18742400	Enhancers	Gastric	stomach
44	chr11:18742200-18742400	Enhancers	Left Ventricle	heart
45	chr11:18742200-18742400	Enhancers	Ovary	ovary
46	chr11:18742200-18742400	Enhancers	Pancreas	Pancrea
47	chr11:18742200-18742400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr11:18742200-18742400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:18742200-18742400	Enhancers	Right Atrium	heart
50	chr11:18742200-18742400	Enhancers	Right Ventricle	heart

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