Variant report

Variant	rs551319988
Chromosome Location	chr3:154796623-154796624
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	chr3:154796309-154799404	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:154796370-154798315	Raji	blood:	n/a	n/a
3	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154794372..154796771-chr3:154800533..154803148,2	MCF-7	breast:

Variant related genes	Relation type
MME	TF binding region
ENSG00000196549	Chromatin interaction

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:93 , 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	chr3:154796000-154796800	Flanking Active TSS	NHDF-Ad	bronchial
3	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:154796200-154799600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:154796200-154799600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:154796400-154796800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr3:154796400-154796800	Active TSS	Brain Anterior Caudate	brain
8	chr3:154796400-154796800	Flanking Active TSS	Fetal Kidney	kidney
9	chr3:154796400-154797000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr3:154796400-154797000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr3:154796400-154797200	Flanking Active TSS	Dnd41	blood
12	chr3:154796400-154797200	Flanking Active TSS	Osteobl	bone
13	chr3:154796400-154799000	Active TSS	Placenta Amnion	Placenta Amnion
14	chr3:154796400-154799200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:154796400-154800000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:154796400-154800000	Active TSS	NHLF	lung
17	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr3:154796600-154796800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr3:154796600-154796800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:154796600-154796800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:154796600-154796800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:154796600-154796800	Enhancers	Liver	Liver
27	chr3:154796600-154796800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr3:154796600-154796800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
30	chr3:154796600-154796800	Active TSS	Brain Substantia Nigra	brain
31	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr3:154796600-154796800	Active TSS	Fetal Intestine Small	intestine
34	chr3:154796600-154796800	Bivalent/Poised TSS	Fetal Lung	lung
35	chr3:154796600-154796800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
36	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
37	chr3:154796600-154796800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr3:154796600-154796800	Flanking Active TSS	K562	blood
41	chr3:154796600-154796800	Flanking Bivalent TSS/Enh	NH-A	brain
42	chr3:154796600-154796800	Bivalent Enhancer	NHEK	skin
43	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:154796600-154797000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr3:154796600-154797000	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr3:154796600-154797000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr3:154796600-154797000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr3:154796600-154797000	Flanking Active TSS	HMEC	breast

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