Variant report

Variant	rs7531358
Chromosome Location	chr1:95010130-95010131
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	STAT3	chr1:95009876-95010161	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:94991604-95010849	IMR90	lung:	n/a	n/a
3	CTCF	chr1:95010040-95010190	NHLF	lung:	n/a	n/a
4	MAFK	chr1:95009707-95011071	IMR90	lung:	n/a	chr1:95010836-95010846 chr1:95010835-95010850 chr1:95010837-95010846
5	FOS	chr1:95009753-95010233	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD1	chr1:94994939-95011321	IMR90	lung:	n/a	n/a
7	STAT3	chr1:95009830-95010190	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr1:95009844-95010231	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr1:95009880-95010622	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:95009497-95010147	IMR90	lung:	n/a	n/a
11	STAT3	chr1:95009818-95010171	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr1:95009712-95011026	MCF10A-Er-Src	breast:	n/a	chr1:95010873-95010884 chr1:95010836-95010844 chr1:95010834-95010845 chr1:95010834-95010846 chr1:95010835-95010845 chr1:95010835-95010845 chr1:95010671-95010683 chr1:95010835-95010845
13	FOS	chr1:95009597-95010240	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFK	chr1:95009641-95010155	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr1:95009829-95010268	MCF10A-Er-Src	breast:	n/a	n/a
16	RAD21	chr1:95009913-95010827	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
2	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:

Variant related genes	Relation type
F3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2021962	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2021963	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3748017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3917606	1.00[AMR][1000 genomes]
rs6692345	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698944	1.00[ASN][1000 genomes]
rs725299	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72968367	1.00[ASN][1000 genomes]
rs841698	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95007600-95010400	Flanking Active TSS	HMEC	breast
2	chr1:95008000-95010600	Enhancers	HSMMtube	muscle
3	chr1:95008200-95011000	Enhancers	HSMM	muscle
4	chr1:95008200-95015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:95008200-95015600	Weak transcription	Pancreas	Pancrea
6	chr1:95008200-95018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:95008200-95019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:95008400-95010200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:95008400-95010400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:95008400-95010400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:95008400-95010600	Enhancers	Stomach Mucosa	stomach
12	chr1:95008400-95011800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:95008600-95010200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:95008600-95010400	Flanking Active TSS	NHLF	lung
15	chr1:95008600-95010600	Flanking Active TSS	NHEK	skin
16	chr1:95008600-95011200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:95008800-95010400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:95008800-95010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:95008800-95011000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:95008800-95011200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:95008800-95011200	Enhancers	NH-A	brain
22	chr1:95008800-95011200	Enhancers	Osteobl	bone
23	chr1:95008800-95011600	Enhancers	Hela-S3	cervix
24	chr1:95008800-95014800	Weak transcription	HepG2	liver
25	chr1:95008800-95015000	Weak transcription	Fetal Kidney	kidney
26	chr1:95008800-95015600	Weak transcription	Esophagus	oesophagus
27	chr1:95008800-95015600	Weak transcription	Placenta	Placenta
28	chr1:95008800-95016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:95009000-95010800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:95009000-95010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:95009000-95011000	Enhancers	Fetal Heart	heart
32	chr1:95009000-95011200	Enhancers	A549	lung
33	chr1:95009200-95010400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:95009200-95010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:95009400-95010600	Enhancers	Ovary	ovary
36	chr1:95009400-95010800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:95009600-95010200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:95009600-95010400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:95009600-95010400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr1:95009600-95010800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:95009600-95011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:95009600-95013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:95009800-95010200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr1:95009800-95010200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:95009800-95010200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr1:95009800-95010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:95009800-95012000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:95009800-95012000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:95009800-95016200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:95010000-95010200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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