Variant report

Variant	rs538508217
Chromosome Location	chr3:113255405-113255406
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113215914..113218639-chr3:113252642..113255587,3	MCF-7	breast:
2	chr3:113255150..113258463-chr3:113464211..113467457,3	MCF-7	breast:
3	chr3:113254930..113255834-chr3:113270582..113271304,2	MCF-7	breast:
4	chr3:113254346..113256305-chr3:113270288..113271550,7	MCF-7	breast:
5	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:
6	chr3:113254658..113255498-chr3:113275897..113276863,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242659	Chromatin interaction
ENSG00000114573	Chromatin interaction
ENSG00000121579	Chromatin interaction
ENSG00000163611	Chromatin interaction

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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv524086	chr3:113255172-113264994	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113252600-113256400	Weak transcription	Esophagus	oesophagus
2	chr3:113253400-113256000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:113253800-113255600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:113253800-113257200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:113253800-113257200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:113253800-113257200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:113253800-113257400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:113253800-113260800	Weak transcription	Thymus	Thymus
9	chr3:113254000-113256200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:113254000-113256200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:113254000-113257200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:113254000-113257800	Weak transcription	Spleen	Spleen
13	chr3:113254000-113258400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:113254200-113260000	Weak transcription	Fetal Thymus	thymus
15	chr3:113254400-113256600	Genic enhancers	Primary T cells from cord blood	blood
16	chr3:113254400-113256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:113254400-113258400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:113254600-113255600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr3:113254600-113255600	Enhancers	Dnd41	blood
20	chr3:113254600-113255800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr3:113254600-113256200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr3:113254600-113256400	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr3:113254600-113257200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:113254800-113257000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:113254800-113257200	Strong transcription	Primary B cells from cord blood	blood
26	chr3:113255000-113255800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:113255000-113256000	Enhancers	NHEK	skin
28	chr3:113255000-113256400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:113255000-113256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:113255000-113256400	Enhancers	Hela-S3	cervix
31	chr3:113255000-113256600	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:113255000-113256600	Enhancers	HMEC	breast
33	chr3:113255000-113256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:113255000-113256800	Enhancers	Stomach Mucosa	stomach
35	chr3:113255200-113255600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:113255200-113256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:113255400-113255800	Enhancers	Small Intestine	intestine
38	chr3:113255400-113256200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr3:113255400-113256600	Enhancers	A549	lung
40	chr3:113255400-113278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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