Variant report

Variant	rs566166385
Chromosome Location	chr1:84609984-84609985
allele	A/C
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	MAX	chr1:84609658-84610377	HCT-116	colon:	n/a	n/a
2	CTCF	chr1:84609860-84610010	HEEpiC	esophagus:	n/a	n/a
3	GABPA	chr1:84609753-84610124	A549	lung:	n/a	n/a
4	ETS1	chr1:84609729-84610072	GM12878	blood:	n/a	n/a
5	CBX3	chr1:84609716-84610267	HCT-116	colon:	n/a	n/a
6	TCF12	chr1:84609646-84610222	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:84609828-84610070	GM12891	blood:	n/a	n/a
8	TCF12	chr1:84609747-84610280	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr1:84609603-84610283	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:84609678-84610118	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr1:84609850-84610223	HUVEC	blood vessel:	n/a	n/a
12	SP1	chr1:84609545-84610346	HCT-116	colon:	n/a	n/a
13	JUND	chr1:84609630-84610257	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:84609762-84610291	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr1:84609768-84610140	NB4	blood:	n/a	n/a
16	POLR2A	chr1:84609789-84610277	Raji	blood:	n/a	n/a
17	POLR2A	chr1:84609773-84610106	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:84609721-84610461	PBDE	blood:	n/a	n/a
19	MAX	chr1:84609775-84610330	NB4	blood:	n/a	n/a
20	ELF1	chr1:84609557-84610227	HCT-116	colon:	n/a	n/a
21	REST	chr1:84609672-84610303	HL-60	blood:	n/a	n/a
22	FOSL1	chr1:84609558-84610263	HCT-116	colon:	n/a	n/a
23	GATA3	chr1:84609746-84610268	SK-N-SH	brain:	n/a	n/a
24	FOS	chr1:84609928-84610096	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:84609749-84610351	HUVEC	blood vessel:	n/a	n/a
26	GABPA	chr1:84609776-84610213	SK-N-SH	brain:	n/a	n/a
27	MYC	chr1:84609833-84610196	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:84609800-84610354	HL-60	blood:	n/a	n/a
29	POLR2A	chr1:84609656-84610366	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:84609746-84610282	HCT-116	colon:	n/a	n/a
31	JUN	chr1:84609802-84610137	HUVEC	blood vessel:	n/a	n/a
32	FOS	chr1:84609750-84611007	HUVEC	blood vessel:	n/a	chr1:84610809-84610817 chr1:84610809-84610816

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:84607000-84613600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:84607400-84610000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:84607800-84610000	Weak transcription	Liver	Liver
5	chr1:84609000-84610000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:84609000-84610000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:84609000-84610800	Weak transcription	Gastric	stomach
8	chr1:84609400-84610200	Flanking Active TSS	Dnd41	blood
9	chr1:84609400-84610400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:84609400-84610400	Enhancers	Fetal Kidney	kidney
11	chr1:84609400-84612800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:84609400-84612800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:84609600-84610000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:84609600-84610000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:84609600-84610000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:84609600-84610000	Enhancers	NH-A	brain
17	chr1:84609600-84610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:84609600-84610200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:84609600-84610200	Enhancers	HSMM	muscle
20	chr1:84609600-84610600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:84609600-84611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:84609600-84611400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:84609600-84612600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:84609600-84612600	Enhancers	NHDF-Ad	bronchial
25	chr1:84609600-84612600	Enhancers	NHEK	skin
26	chr1:84609600-84612600	Enhancers	Osteobl	bone
27	chr1:84609600-84612800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:84609600-84613000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:84609600-84613800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:84609600-84614000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:84609800-84610000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:84609800-84610000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:84609800-84610000	Active TSS	Primary hematopoietic stem cells	blood
34	chr1:84609800-84610000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:84609800-84610000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:84609800-84610200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr1:84609800-84610200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:84609800-84610200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:84609800-84610200	Enhancers	Brain Hippocampus Middle	brain
40	chr1:84609800-84610200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:84609800-84610200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:84609800-84610200	Enhancers	Fetal Heart	heart
43	chr1:84609800-84610400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:84609800-84610400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:84609800-84610400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:84609800-84610400	Enhancers	Brain Substantia Nigra	brain
47	chr1:84609800-84610400	Enhancers	A549	lung
48	chr1:84609800-84611200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:84609800-84611200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:84609800-84611200	Active TSS	Duodenum Smooth Muscle	Duodenum

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