Variant report

Variant	rs557754801
Chromosome Location	chr3:154796810-154796811
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	PBX3	chr3:154796810-154798333	SK-N-SH	brain:	n/a	chr3:154797735-154797744
2	POLR2A	chr3:154796712-154796937	ProgFib	skin:	n/a	n/a
3	POLR2A	chr3:154796309-154799404	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr3:154796370-154798315	Raji	blood:	n/a	n/a
5	MAX	chr3:154796686-154798269	SK-N-SH	brain:	n/a	chr3:154798073-154798081
6	POLR2A	chr3:154796703-154796834	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:154796723-154797215	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr3:154796708-154798288	IMR90	lung:	n/a	chr3:154797713-154797725 chr3:154797640-154797654

Variant related genes	Relation type
MME	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv963491	chr3:154795648-154803797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3325286	chr3:154796483-154799031	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154789200-154797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:154796200-154799600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:154796200-154799600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:154796400-154797000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:154796400-154797000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr3:154796400-154797200	Flanking Active TSS	Dnd41	blood
8	chr3:154796400-154797200	Flanking Active TSS	Osteobl	bone
9	chr3:154796400-154799000	Active TSS	Placenta Amnion	Placenta Amnion
10	chr3:154796400-154799200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:154796400-154800000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:154796400-154800000	Active TSS	NHLF	lung
13	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:154796600-154797000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
17	chr3:154796600-154797000	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr3:154796600-154797000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr3:154796600-154797000	Flanking Active TSS	HMEC	breast
21	chr3:154796600-154797000	Flanking Active TSS	HSMMtube	muscle
22	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr3:154796600-154797200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:154796600-154797200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr3:154796600-154797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:154796600-154797200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:154796600-154797200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr3:154796600-154797200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr3:154796600-154797200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr3:154796600-154797200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr3:154796600-154797200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr3:154796600-154797200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr3:154796600-154797200	Flanking Active TSS	HUVEC	blood vessel
34	chr3:154796600-154797400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:154796600-154797400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr3:154796600-154797400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr3:154796600-154797600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:154796600-154797600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
39	chr3:154796600-154797600	Active TSS	Right Ventricle	heart
40	chr3:154796600-154797800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr3:154796600-154797800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr3:154796600-154798000	Active TSS	Rectal Smooth Muscle	rectum
43	chr3:154796600-154798200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:154796600-154798400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr3:154796600-154798400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:154796600-154798400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr3:154796600-154798600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:154796600-154798600	Active TSS	Thymus	Thymus
49	chr3:154796600-154798600	Active TSS	HSMM	muscle
50	chr3:154796600-154798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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