Variant report

Variant	rs377603281
Chromosome Location	chr11:18644483-18644484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18643136..18646726-chr11:18653855..18655704,3	K562	blood:
2	chr11:18608348..18610776-chr11:18643416..18646152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	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
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv3376447	chr11:18643982-18644515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
3	chr11:18637000-18645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:18637400-18654400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:18637400-18654400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:18637400-18654800	Weak transcription	Esophagus	oesophagus
8	chr11:18637400-18654800	Weak transcription	Lung	lung
9	chr11:18637400-18654800	Weak transcription	Pancreas	Pancrea
10	chr11:18637600-18645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:18637600-18650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:18637600-18650600	Weak transcription	Gastric	stomach
13	chr11:18637600-18654000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:18637600-18654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:18637600-18654200	Weak transcription	Hela-S3	cervix
16	chr11:18637600-18654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:18637600-18654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:18637600-18654400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:18637600-18654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:18637600-18654800	Weak transcription	Right Ventricle	heart
21	chr11:18637600-18654800	Weak transcription	Spleen	Spleen
22	chr11:18637800-18654800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:18637800-18654800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:18637800-18654800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:18638000-18650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:18638000-18654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:18638000-18654400	Weak transcription	Fetal Intestine Large	intestine
28	chr11:18638000-18654600	Weak transcription	Brain Substantia Nigra	brain
29	chr11:18638200-18654800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:18638400-18654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:18638400-18654400	Weak transcription	K562	blood
32	chr11:18638400-18654800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:18638800-18649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:18639800-18644800	Weak transcription	Primary B cells from cord blood	blood
35	chr11:18640200-18654600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:18640400-18645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:18640400-18654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:18640400-18654200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:18640400-18654400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:18640400-18654400	Weak transcription	HepG2	liver
41	chr11:18640400-18654800	Weak transcription	Aorta	Aorta
42	chr11:18640600-18645000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:18640600-18648400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:18640600-18654200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:18640600-18654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:18640600-18654400	Weak transcription	A549	lung
47	chr11:18640600-18654400	Weak transcription	NH-A	brain
48	chr11:18640600-18654600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:18640600-18654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:18640600-18654800	Weak transcription	Thymus	Thymus

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