Variant report

Variant	rs575932247
Chromosome Location	chr3:53019735-53019736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv3823	chr3:53003659-53051063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2756989	chr3:53006055-53039455	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759149	chr3:53006055-53039455	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv998445	chr3:53008146-53023199	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1001449	chr3:53009379-53039104	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv998180	chr3:53011207-53039267	Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1802390	chr3:53011741-53039205	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1008590	chr3:53011741-53039267	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1002814	chr3:53011741-53039665	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1011757	chr3:53012195-53039104	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1011874	chr3:53019183-53039104	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1003328	chr3:53019183-53039665	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1006561	chr3:53019313-53039104	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
2	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
3	chr3:53012600-53032600	Weak transcription	Pancreas	Pancrea
4	chr3:53016000-53019800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:53016200-53019800	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:53016200-53029400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53017000-53020600	Enhancers	Dnd41	blood
8	chr3:53017600-53019800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:53017800-53019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:53018000-53019800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:53018000-53019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:53018000-53030400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:53018000-53044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:53018200-53019800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:53018200-53020400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:53018400-53019800	Enhancers	Primary T cells from cord blood	blood
18	chr3:53018400-53019800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:53018400-53020400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:53018400-53020600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:53018600-53032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:53019200-53032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:53019200-53039600	Weak transcription	GM12878-XiMat	blood
25	chr3:53019400-53021800	Weak transcription	Primary B cells from cord blood	blood
26	chr3:53019400-53023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:53019400-53024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:53019600-53019800	Enhancers	Psoas Muscle	Psoas
29	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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