Variant report

Variant	rs563643553
Chromosome Location	chr15:83348706-83348707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
2	chr15:83225181..83227262-chr15:83347590..83349115,2	MCF-7	breast:
3	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
4	chr15:83347963..83350756-chr15:83406519..83408532,2	K562	blood:
5	chr15:83337134..83338829-chr15:83346733..83348887,2	MCF-7	breast:
6	chr15:83347091..83349558-chr15:83378371..83383465,4	MCF-7	breast:
7	chr15:83346623..83348757-chr15:83479507..83481301,2	K562	blood:
8	chr15:83328672..83331748-chr15:83346249..83349279,3	MCF-7	breast:
9	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
10	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
11	chr15:83346733..83351654-chr15:83416978..83420559,7	MCF-7	breast:
12	chr15:83348154..83351401-chr15:83364138..83368453,6	MCF-7	breast:
13	chr15:83343188..83346700-chr15:83346875..83348889,3	K562	blood:
14	chr15:83348031..83349686-chr15:83366769..83368430,2	MCF-7	breast:
15	chr15:83348285..83351278-chr15:83678934..83682211,3	MCF-7	breast:
16	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
17	chr15:83346566..83348884-chr15:83517556..83519595,2	K562	blood:
18	chr15:83347977..83352145-chr15:83417264..83422141,9	MCF-7	breast:
19	chr15:83348209..83350926-chr15:83376211..83377868,2	MCF-7	breast:
20	chr15:83347908..83350889-chr3:44378735..44380988,2	MCF-7	breast:
21	chr15:83347146..83349993-chr15:83416756..83419846,3	K562	blood:
22	chr15:83330156..83333342-chr15:83346386..83350515,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156232	Chromatin interaction
ENSG00000228141	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000271937	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3443566	chr15:83346946-83367664	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv904450	chr15:83347193-83395340	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83335200-83349200	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83343000-83350000	Weak transcription	Brain Substantia Nigra	brain
3	chr15:83344200-83348800	Weak transcription	Gastric	stomach
4	chr15:83345600-83348800	Weak transcription	Brain Germinal Matrix	brain
5	chr15:83346400-83357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:83346600-83357200	Weak transcription	Brain Angular Gyrus	brain
7	chr15:83347600-83349600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:83347800-83349400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:83347800-83357000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:83348400-83348800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr15:83348400-83349200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr15:83348400-83349800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:83348400-83350400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr15:83348600-83348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:83348600-83348800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr15:83348600-83348800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr15:83348600-83348800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr15:83348600-83348800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr15:83348600-83348800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:83348600-83348800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr15:83348600-83348800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:83348600-83348800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:83348600-83348800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:83348600-83348800	Enhancers	Esophagus	oesophagus
25	chr15:83348600-83348800	Enhancers	Lung	lung
26	chr15:83348600-83348800	Enhancers	Pancreas	Pancrea
27	chr15:83348600-83348800	Enhancers	Right Atrium	heart
28	chr15:83348600-83348800	Enhancers	Spleen	Spleen
29	chr15:83348600-83348800	Enhancers	HMEC	breast
30	chr15:83348600-83349000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:83348600-83349000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr15:83348600-83349000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr15:83348600-83349000	Bivalent Enhancer	Liver	Liver
34	chr15:83348600-83349200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr15:83348600-83349400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:83348600-83349400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr15:83348600-83349600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:83348600-83349800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:83348600-83349800	Active TSS	K562	blood
40	chr15:83348600-83350000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr15:83348600-83350000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr15:83348600-83350000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:83348600-83350000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:83348600-83350000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:83348600-83350000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr15:83348600-83350400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:83348600-83350400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr15:83348600-83350600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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