Variant report

Variant	rs588468
Chromosome Location	chr13:30721787-30721788
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	chr13:30720797..30723795-chr8:43093825..43096195,3	MCF-7	breast:
2	chr13:30720797..30722317-chr8:43092931..43095226,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs649241	1.00[EUR][1000 genomes]
rs664135	0.89[AFR][1000 genomes]
rs74043031	1.00[EUR][1000 genomes]
rs913904	1.00[EUR][1000 genomes]

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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr13:30717800-30722800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:30717800-30723000	Weak transcription	Colonic Mucosa	Colon
8	chr13:30718000-30725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:30718000-30727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:30718000-30728600	Weak transcription	Esophagus	oesophagus
11	chr13:30718400-30722200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:30718600-30723000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30718600-30727800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:30719600-30726600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:30719800-30723400	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:30719800-30733800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:30720000-30722000	Enhancers	Primary T cells from cord blood	blood
18	chr13:30720000-30726400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr13:30720000-30726400	Enhancers	Fetal Thymus	thymus
20	chr13:30720000-30727000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30720200-30722000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr13:30720200-30723600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:30720200-30724400	Enhancers	Thymus	Thymus
24	chr13:30720400-30721800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr13:30720400-30721800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr13:30720400-30721800	Enhancers	Spleen	Spleen
27	chr13:30720400-30723600	Enhancers	Dnd41	blood
28	chr13:30720600-30722800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:30720600-30723200	Enhancers	GM12878-XiMat	blood
30	chr13:30721200-30722400	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:30721200-30725200	Enhancers	Adipose Nuclei	Adipose

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