Variant report

Variant	rs531939918
Chromosome Location	chr13:30911921-30911922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30909466..30912053-chr13:31038321..31040387,2	MCF-7	breast:
2	chr13:30905394..30908859-chr13:30911466..30914534,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30892800-30913400	Weak transcription	Psoas Muscle	Psoas
2	chr13:30903600-30914000	Weak transcription	Aorta	Aorta
3	chr13:30903800-30912000	Weak transcription	NHDF-Ad	bronchial
4	chr13:30905800-30913600	Weak transcription	Fetal Stomach	stomach
5	chr13:30905800-30913600	Weak transcription	Right Atrium	heart
6	chr13:30905800-30913600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:30905800-30914000	Weak transcription	Fetal Lung	lung
8	chr13:30905800-30914000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:30906600-30912000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30906600-30913800	Weak transcription	Right Ventricle	heart
11	chr13:30906800-30912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30907000-30913800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:30907200-30912000	Weak transcription	Fetal Heart	heart
14	chr13:30907400-30914000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:30908000-30914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:30909000-30919800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:30909200-30913600	Weak transcription	Adipose Nuclei	Adipose
18	chr13:30909400-30914000	Weak transcription	Brain Anterior Caudate	brain
19	chr13:30909600-30912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:30909600-30913800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:30909600-30914000	Weak transcription	Brain Angular Gyrus	brain
22	chr13:30909800-30913400	Weak transcription	Spleen	Spleen
23	chr13:30909800-30914000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:30909800-30914000	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:30909800-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:30909800-30919400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:30910000-30912400	Weak transcription	Pancreas	Pancrea
28	chr13:30910000-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:30910000-30920600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:30910600-30916400	Enhancers	Hela-S3	cervix
31	chr13:30910800-30919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:30911000-30912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:30911000-30912000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:30911000-30912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:30911000-30913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr13:30911000-30914400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr13:30911000-30914800	Enhancers	K562	blood
38	chr13:30911000-30917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:30911000-30919000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:30911200-30919600	Weak transcription	Primary B cells from cord blood	blood
41	chr13:30911400-30917600	Enhancers	Colon Smooth Muscle	Colon
42	chr13:30911600-30912800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:30911600-30912800	Weak transcription	Thymus	Thymus
44	chr13:30911600-30913600	Weak transcription	Fetal Thymus	thymus
45	chr13:30911600-30914000	Weak transcription	Liver	Liver
46	chr13:30911600-30917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:30911800-30912200	Weak transcription	Fetal Muscle Leg	muscle
48	chr13:30911800-30914200	Weak transcription	Dnd41	blood
49	chr13:30911800-30915200	Enhancers	Rectal Smooth Muscle	rectum

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