Variant report

Variant	rs567578267
Chromosome Location	chr1:84629493-84629494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:84629400-84629550	HPAF	blood vessel:	n/a	n/a
2	REST	chr1:84629052-84635293	H1-neurons	neurons:	n/a	n/a
3	RFX5	chr1:84629103-84630995	SK-N-SH	brain:	n/a	chr1:84630303-84630318 chr1:84630302-84630319 chr1:84630303-84630318 chr1:84630303-84630318

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
2	chr1:84611600-84629800	Weak transcription	Fetal Stomach	stomach
3	chr1:84614000-84633800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:84615800-84634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:84616200-84635200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:84618800-84630400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:84619200-84630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:84622200-84630000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:84622400-84635800	Weak transcription	Small Intestine	intestine
10	chr1:84623000-84629800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:84623000-84639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:84623800-84630000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
14	chr1:84624200-84630800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:84624800-84633200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:84625200-84629600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:84625600-84629800	Weak transcription	Right Atrium	heart
18	chr1:84625600-84635600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:84625800-84634000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:84626000-84630000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:84626400-84630400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:84627200-84631000	Weak transcription	HUVEC	blood vessel
23	chr1:84627600-84635400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:84628800-84629600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:84628800-84629600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:84628800-84629600	Enhancers	Brain Substantia Nigra	brain
27	chr1:84628800-84629800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:84628800-84629800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:84628800-84629800	Enhancers	Fetal Brain Male	brain
30	chr1:84628800-84630400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:84628800-84630600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:84629000-84629600	Enhancers	Ovary	ovary
33	chr1:84629000-84629600	Genic enhancers	Dnd41	blood
34	chr1:84629000-84629800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:84629200-84629600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
36	chr1:84629200-84629600	Weak transcription	Brain Germinal Matrix	brain
37	chr1:84629200-84629600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:84629200-84629600	Flanking Active TSS	Fetal Brain Female	brain
39	chr1:84629200-84629800	Weak transcription	NHLF	lung
40	chr1:84629200-84636400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
42	chr1:84629400-84629600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:84629400-84629600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:84629400-84629600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr1:84629400-84629600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr1:84629400-84629600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:84629400-84629800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:84629400-84629800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:84629400-84629800	Enhancers	Fetal Lung	lung
50	chr1:84629400-84630000	Weak transcription	Primary T cells fromperipheralblood	blood

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