Variant report

Variant	rs138183384
Chromosome Location	chr3:51740339-51740340
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	POLR2A	chr3:51740279-51740558	Hela-S3	cervix:	n/a	n/a
2	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
3	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
4	ZNF263	chr3:51740087-51740457	HEK293-T-REx	kidney:	n/a	n/a
5	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
6	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
7	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
8	REST	chr3:51740311-51741079	HepG2	liver:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
9	REST	chr3:51740000-51740403	PFSK-1	brain:	n/a	chr3:51740250-51740259
10	MXI1	chr3:51739763-51741816	SK-N-SH	brain:	n/a	n/a
11	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
12	REST	chr3:51740339-51741358	HepG2	liver:	n/a	chr3:51740882-51740900 chr3:51740900-51740910 chr3:51740881-51740895 chr3:51741059-51741072 chr3:51740897-51740906
13	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	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
3	chr3:51716400-51741200	Weak transcription	Fetal Kidney	kidney
4	chr3:51719600-51741200	Weak transcription	NHDF-Ad	bronchial
5	chr3:51721000-51741000	Weak transcription	HUVEC	blood vessel
6	chr3:51721400-51740400	Strong transcription	Dnd41	blood
7	chr3:51721400-51740600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:51721400-51740800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:51721600-51740400	Strong transcription	Fetal Stomach	stomach
10	chr3:51721600-51740800	Weak transcription	HSMM	muscle
11	chr3:51722600-51741200	Weak transcription	Stomach Mucosa	stomach
12	chr3:51724000-51740400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:51724400-51741200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:51725400-51740800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:51729200-51740400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:51730400-51740400	Strong transcription	Pancreas	Pancrea
17	chr3:51733000-51741400	Weak transcription	Fetal Heart	heart
18	chr3:51734000-51741200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:51734000-51741200	Weak transcription	NH-A	brain
20	chr3:51734400-51740400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:51734600-51740600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:51734600-51741400	Weak transcription	Fetal Lung	lung
23	chr3:51734600-51741600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:51735000-51741200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:51735200-51741200	Weak transcription	HepG2	liver
26	chr3:51735200-51741200	Weak transcription	Osteobl	bone
27	chr3:51736400-51741400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:51737000-51741200	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:51737400-51741200	Weak transcription	HMEC	breast
30	chr3:51738200-51740400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:51738200-51741200	Weak transcription	Fetal Thymus	thymus
32	chr3:51738400-51740400	Weak transcription	Brain Germinal Matrix	brain
33	chr3:51738400-51740400	Genic enhancers	Spleen	Spleen
34	chr3:51738400-51741200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:51738400-51743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:51738800-51740400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:51738800-51741000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:51738800-51741000	Weak transcription	NHEK	skin
39	chr3:51738800-51741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:51738800-51741200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:51738800-51741200	Weak transcription	Fetal Intestine Large	intestine
42	chr3:51738800-51741400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:51739000-51740400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:51739000-51740400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:51739000-51741000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:51739000-51741000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:51739200-51740400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:51739200-51741000	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:51739200-51741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:51739400-51741000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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