Variant report

Variant	rs148077539
Chromosome Location	chr1:151583594-151583595
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	CEBPB	chr1:151583583-151584431	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
2	HCFC1	chr1:151583005-151585633	Hela-S3	cervix:	n/a	n/a
3	TEAD4	chr1:151583542-151584189	HepG2	liver:	n/a	n/a
4	JUN	chr1:151583576-151585058	K562	blood:	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
ENSG00000143442	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000182134	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151579800-151583600	Weak transcription	Stomach Mucosa	stomach
2	chr1:151579800-151583800	Weak transcription	Pancreas	Pancrea
3	chr1:151580200-151584000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:151580800-151583600	Weak transcription	NHLF	lung
5	chr1:151581000-151583600	Weak transcription	HSMM	muscle
6	chr1:151581000-151583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:151581000-151583800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:151581000-151583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:151581000-151584200	Weak transcription	Fetal Stomach	stomach
11	chr1:151581200-151583600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:151581200-151583600	Weak transcription	NHEK	skin
13	chr1:151581200-151583800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:151581200-151583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151581200-151583800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:151581200-151583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151581200-151583800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:151581200-151583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:151581200-151583800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:151581200-151583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:151581200-151583800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:151581200-151583800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:151581200-151583800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:151581200-151583800	Weak transcription	HSMMtube	muscle
25	chr1:151581200-151583800	Weak transcription	K562	blood
26	chr1:151581200-151583800	Weak transcription	NH-A	brain
27	chr1:151581200-151584200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:151581400-151583600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:151581400-151583600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:151581400-151583600	Weak transcription	A549	lung
31	chr1:151581400-151583600	Weak transcription	HMEC	breast
32	chr1:151581400-151583600	Weak transcription	NHDF-Ad	bronchial
33	chr1:151581400-151583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151581400-151583800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:151581400-151583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:151581400-151583800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:151581400-151583800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:151581400-151583800	Weak transcription	HUVEC	blood vessel
40	chr1:151581400-151583800	Weak transcription	Osteobl	bone
41	chr1:151581400-151584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:151581600-151583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:151581600-151584200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:151582400-151584000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:151582600-151584000	Enhancers	Placenta	Placenta
46	chr1:151582600-151584200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:151582600-151584200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:151582800-151584200	Enhancers	Fetal Intestine Small	intestine
49	chr1:151583200-151583600	Enhancers	HepG2	liver
50	chr1:151583200-151584000	Enhancers	Fetal Intestine Large	intestine

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