Variant report

Variant	rs116288609
Chromosome Location	chr5:93973516-93973517
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	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:
2	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv882386	chr5:93973177-94008969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:93955800-93974000	Weak transcription	HMEC	breast
7	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:93955800-94027600	Weak transcription	NH-A	brain
9	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
11	chr5:93959000-93976400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:93962800-93975400	Weak transcription	NHLF	lung
13	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:93964400-93973600	Strong transcription	Hela-S3	cervix
15	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:93965800-93973600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:93966600-93974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
20	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:93967200-93974400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
23	chr5:93967400-93974400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:93967400-93974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:93967400-93975200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:93967400-93975400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:93967600-93979800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:93967800-93978200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:93968000-93974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:93968000-93974400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
35	chr5:93968000-93995200	Weak transcription	HSMM	muscle
36	chr5:93968200-93975000	Weak transcription	Fetal Heart	heart
37	chr5:93968400-93974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:93968400-93975800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:93968800-93974400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:93969000-93973800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:93969000-93976600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr5:93969200-93978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:93969600-93977400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr5:93970200-93974200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:93971400-93974000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr5:93971400-93976800	ZNF genes & repeats	Dnd41	blood
48	chr5:93971400-93995400	Weak transcription	Spleen	Spleen
49	chr5:93971600-93973600	ZNF genes & repeats	Fetal Lung	lung
50	chr5:93971600-93976800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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