Variant report

Variant	rs551066727
Chromosome Location	chr1:151583675-151583676
allele	-/AC
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	CEBPB	chr1:151583632-151584821	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
2	EGR1	chr1:151583675-151585014	MCF-7	breast:	n/a	chr1:151584247-151584260 chr1:151584502-151584516 chr1:151584457-151584481 chr1:151584438-151584451 chr1:151584438-151584451 chr1:151584439-151584448 chr1:151584438-151584451 chr1:151584442-151584452 chr1:151584363-151584387 chr1:151584438-151584448 chr1:151584437-151584452 chr1:151584438-151584451 chr1:151584247-151584257 chr1:151584437-151584451 chr1:151584439-151584450
3	CEBPB	chr1:151583583-151584431	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
4	USF1	chr1:151583667-151584193	A549	lung:	n/a	chr1:151583963-151583974
5	MAX	chr1:151583597-151585659	A549	lung:	n/a	chr1:151584441-151584451
6	HCFC1	chr1:151583005-151585633	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:151583647-151584690	HL-60	blood:	n/a	n/a
8	FOS	chr1:151583656-151584402	MCF10A-Er-Src	breast:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
9	MAX	chr1:151583600-151584162	MCF-7	breast:	n/a	n/a
10	FOS	chr1:151583656-151584490	MCF10A-Er-Src	breast:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
11	MAZ	chr1:151583626-151586408	IMR90	lung:	n/a	chr1:151584441-151584451
12	CEBPB	chr1:151583668-151584439	A549	lung:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
13	TEAD4	chr1:151583542-151584189	HepG2	liver:	n/a	n/a
14	TCF12	chr1:151583626-151585031	A549	lung:	n/a	n/a
15	MAX	chr1:151583655-151585118	HepG2	liver:	n/a	chr1:151584441-151584451
16	JUN	chr1:151583670-151584159	HepG2	liver:	n/a	n/a
17	JUN	chr1:151583576-151585058	K562	blood:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
18	FOS	chr1:151583663-151584514	MCF10A-Er-Src	breast:	n/a	chr1:151584248-151584257 chr1:151584247-151584256

No.	Distal block	Cell Line	Cell type
1	chr1:151580809..151584127-chr1:151586626..151590699,5	MCF-7	breast:
2	chr1:151534012..151536307-chr1:151581033..151583882,2	MCF-7	breast:
3	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
4	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
5	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
6	chr1:151582188..151584894-chr1:151679011..151681614,2	MCF-7	breast:
7	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:

Variant related genes	Relation type
SNX27	TF binding region
ENSG00000143367	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159409	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	esv3354758	chr1:151583553-151586301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151579800-151583800	Weak transcription	Pancreas	Pancrea
2	chr1:151580200-151584000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:151581000-151583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:151581000-151583800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:151581000-151584200	Weak transcription	Fetal Stomach	stomach
8	chr1:151581200-151583800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:151581200-151583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:151581200-151583800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:151581200-151583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151581200-151583800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:151581200-151583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:151581200-151583800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:151581200-151583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:151581200-151583800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:151581200-151583800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:151581200-151583800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:151581200-151583800	Weak transcription	HSMMtube	muscle
20	chr1:151581200-151583800	Weak transcription	K562	blood
21	chr1:151581200-151583800	Weak transcription	NH-A	brain
22	chr1:151581200-151584200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:151581400-151583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:151581400-151583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:151581400-151583800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:151581400-151583800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:151581400-151583800	Weak transcription	HUVEC	blood vessel
30	chr1:151581400-151583800	Weak transcription	Osteobl	bone
31	chr1:151581400-151584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:151581600-151584200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:151582400-151584000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:151582600-151584000	Enhancers	Placenta	Placenta
35	chr1:151582600-151584200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:151582600-151584200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:151582800-151584200	Enhancers	Fetal Intestine Small	intestine
38	chr1:151583200-151584000	Enhancers	Fetal Intestine Large	intestine
39	chr1:151583200-151584200	Enhancers	Gastric	stomach
40	chr1:151583400-151583800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:151583400-151583800	Enhancers	Hela-S3	cervix
42	chr1:151583400-151584200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr1:151583600-151583800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:151583600-151583800	Enhancers	Adipose Nuclei	Adipose
45	chr1:151583600-151583800	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:151583600-151583800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:151583600-151583800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:151583600-151583800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:151583600-151583800	Enhancers	A549	lung
50	chr1:151583600-151583800	Enhancers	NHDF-Ad	bronchial

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