Variant report

Variant	rs551947529
Chromosome Location	chr3:51740515-51740516
allele	C/T
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	REST	chr3:51740438-51741739	H1-neurons	neurons:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
2	REST	chr3:51740473-51741350	HL-60	blood:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
3	REST	chr3:51740410-51741624	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
4	REST	chr3:51740406-51741097	U87	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
5	POLR2A	chr3:51740279-51740558	Hela-S3	cervix:	n/a	n/a
6	REST	chr3:51740204-51741740	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
7	REST	chr3:51740486-51740664	SK-N-SH	brain:	n/a	n/a
8	REST	chr3:51739816-51741537	SK-N-SH	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
9	REST	chr3:51740283-51741145	ECC-1	luminal epithelium:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
10	REST	chr3:51740494-51740738	GM12878	blood:	n/a	n/a
11	REST	chr3:51740477-51741284	PANC-1	pancreas:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
12	REST	chr3:51740063-51741723	PFSK-1	brain:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
13	REST	chr3:51740417-51741027	K562	blood:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51740897-51740906
14	REST	chr3:51740484-51740753	GM12878	blood:	n/a	n/a
15	REST	chr3:51740070-51741651	H1-hESC	embryonic stem cell:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
16	REST	chr3:51740311-51741079	HepG2	liver:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
17	MAFK	chr3:51740475-51740741	HepG2	liver:	n/a	n/a
18	MAFK	chr3:51740459-51740801	HepG2	liver:	n/a	n/a
19	REST	chr3:51740440-51741177	PANC-1	pancreas:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
20	REST	chr3:51740436-51741159	PANC-1	pancreas:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
21	REST	chr3:51740414-51741265	PANC-1	pancreas:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
22	REST	chr3:51740413-51740748	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr3:51739763-51741816	SK-N-SH	brain:	n/a	n/a
24	REST	chr3:51740479-51741583	MCF-7	breast:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
25	MAFF	chr3:51740505-51740722	HepG2	liver:	n/a	chr3:51740615-51740633
26	REST	chr3:51740191-51741415	ECC-1	luminal epithelium:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906
27	REST	chr3:51740453-51740741	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr3:51740339-51741358	HepG2	liver:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
29	REST	chr3:51740127-51741209	HL-60	blood:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740250-51740259 chr3:51740897-51740906

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51739711..51741988-chr3:51976226..51978640,2	K562	blood:

Variant related genes	Relation type
GRM2	TF binding region
ENSG00000041880	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3410055	chr3:51737012-51741510	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3403870	chr3:51740262-51741860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:51716400-51741200	Weak transcription	Fetal Kidney	kidney
3	chr3:51719600-51741200	Weak transcription	NHDF-Ad	bronchial
4	chr3:51721000-51741000	Weak transcription	HUVEC	blood vessel
5	chr3:51721400-51740600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:51721400-51740800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:51721600-51740800	Weak transcription	HSMM	muscle
8	chr3:51722600-51741200	Weak transcription	Stomach Mucosa	stomach
9	chr3:51724400-51741200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:51725400-51740800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:51733000-51741400	Weak transcription	Fetal Heart	heart
12	chr3:51734000-51741200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:51734000-51741200	Weak transcription	NH-A	brain
14	chr3:51734600-51740600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:51734600-51741400	Weak transcription	Fetal Lung	lung
16	chr3:51734600-51741600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:51735000-51741200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:51735200-51741200	Weak transcription	HepG2	liver
19	chr3:51735200-51741200	Weak transcription	Osteobl	bone
20	chr3:51736400-51741400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:51737000-51741200	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:51737400-51741200	Weak transcription	HMEC	breast
23	chr3:51738200-51741200	Weak transcription	Fetal Thymus	thymus
24	chr3:51738400-51741200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:51738400-51743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:51738800-51741000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:51738800-51741000	Weak transcription	NHEK	skin
28	chr3:51738800-51741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:51738800-51741200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:51738800-51741200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:51738800-51741400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:51739000-51741000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:51739000-51741000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:51739200-51741000	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:51739200-51741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:51739400-51741000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:51739400-51741000	Weak transcription	Ovary	ovary
38	chr3:51739400-51741200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:51739400-51741200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:51739400-51741200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:51739400-51741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:51739400-51741200	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:51739400-51741200	Weak transcription	Left Ventricle	heart
44	chr3:51739400-51741200	Weak transcription	Thymus	Thymus
45	chr3:51739400-51741400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:51739400-51743400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:51739600-51741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:51739600-51741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:51739600-51741000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:51739600-51741200	Weak transcription	Brain Substantia Nigra	brain

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