Variant report

Variant	rs78657972
Chromosome Location	chr13:30984920-30984921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30983718..30985793-chr13:30990112..30992052,2	MCF-7	breast:
2	chr13:30981012..30985538-chr13:31190181..31193440,4	MCF-7	breast:
3	chr13:30981599..30985158-chr13:30990807..30993818,4	K562	blood:
4	chr13:30984199..30986821-chr13:31040694..31043436,2	K562	blood:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction
ENSG00000132952	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3502539	chr13:30984552-30988050	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30982600-30995200	Weak transcription	HSMMtube	muscle
2	chr13:30983000-30985000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30983000-30985000	Enhancers	HSMM	muscle
4	chr13:30983000-30985000	Enhancers	NHDF-Ad	bronchial
5	chr13:30983000-30985400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:30983000-30989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:30983200-30985000	Enhancers	NHEK	skin
8	chr13:30983200-30985600	Enhancers	Osteobl	bone
9	chr13:30983200-30987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:30983200-30989400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:30983200-30989400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:30983200-30995600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:30983400-30985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:30983400-30986400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:30983400-30987600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:30983400-30987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:30983600-30985000	Enhancers	Primary B cells from cord blood	blood
18	chr13:30983600-30987400	Weak transcription	Spleen	Spleen
19	chr13:30983800-30985000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:30983800-30985800	Weak transcription	Aorta	Aorta
21	chr13:30983800-30986200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:30984000-30985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:30984000-30987800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr13:30984000-30995000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:30984200-30985000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:30984200-30988800	Weak transcription	Fetal Thymus	thymus
27	chr13:30984400-30985200	Enhancers	Adipose Nuclei	Adipose
28	chr13:30984400-30989600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:30984600-30986400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr13:30984800-30985000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:30984800-30985000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr13:30984800-30985000	Enhancers	NHLF	lung
33	chr13:30984800-30987400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr13:30984800-30992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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