Variant report

Variant	rs375551734
Chromosome Location	chr13:48892212-48892213
allele	-/CAGAGGCGGAGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48876409..48879041-chr13:48891404..48895274,4	K562	blood:
2	chr13:48890081..48892868-chr13:48894864..48897865,3	K562	blood:
3	chr13:48886217..48888440-chr13:48889572..48892484,2	K562	blood:
4	chr13:48890081..48892868-chr13:48895094..48897865,2	K562	blood:

Variant related genes	Relation type
ENSG00000139687	Chromatin interaction
ENSG00000231473	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429306	chr13:48891919-48892212	Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48879400-48894200	Weak transcription	A549	lung
2	chr13:48879800-48892400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:48880200-48892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:48880200-48892600	Weak transcription	NH-A	brain
5	chr13:48880200-48893800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:48880200-48894400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
8	chr13:48880400-48892400	Weak transcription	HMEC	breast
9	chr13:48880400-48892600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:48880600-48892400	Weak transcription	Ovary	ovary
11	chr13:48880600-48894600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
13	chr13:48880800-48892400	Weak transcription	Primary T cells from cord blood	blood
14	chr13:48880800-48893200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:48880800-48895200	Weak transcription	Small Intestine	intestine
16	chr13:48880800-48895600	Weak transcription	Hela-S3	cervix
17	chr13:48880800-48896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:48881200-48892800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:48881200-48895600	Weak transcription	HepG2	liver
20	chr13:48883000-48892400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:48884200-48892600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr13:48884400-48893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:48884600-48892600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:48884600-48892800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr13:48884800-48893000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:48886600-48892800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:48887000-48896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:48887800-48892800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:48888800-48892400	Weak transcription	Brain Substantia Nigra	brain
30	chr13:48889600-48892800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:48890000-48894200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:48890000-48894400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr13:48890000-48894800	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr13:48890200-48892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:48890200-48894200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:48890200-48895000	ZNF genes & repeats	Fetal Stomach	stomach
37	chr13:48890200-48896000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr13:48890400-48892400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:48890600-48893600	Strong transcription	NHLF	lung
40	chr13:48890600-48895000	Weak transcription	Right Atrium	heart
41	chr13:48890600-48895400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:48890800-48892800	Genic enhancers	Right Ventricle	heart
43	chr13:48890800-48893200	Genic enhancers	Spleen	Spleen
44	chr13:48890800-48894200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:48890800-48896800	ZNF genes & repeats	Dnd41	blood
46	chr13:48891000-48893600	ZNF genes & repeats	Esophagus	oesophagus
47	chr13:48891000-48893800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:48891000-48895000	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr13:48891000-48895400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:48891000-48896800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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