Variant report

Variant	rs2935593
Chromosome Location	chr8:104132853-104132854
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	GATA3	chr8:104132520-104132894	T-47D	breast:	n/a	n/a
2	KAP1	chr8:104132452-104133084	U2OS	brain:	n/a	n/a
3	MYC	chr8:104132263-104132870	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:104132252-104133174	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:104132323-104133085	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr8:104132252-104132880	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr8:104132291-104132854	MCF10A-Er-Src	breast:	n/a	chr8:104132405-104132417 chr8:104132401-104132413 chr8:104132618-104132626 chr8:104132395-104132407
8	GATA3	chr8:104132501-104132867	T-47D	breast:	n/a	n/a
9	POLR2A	chr8:104131940-104132976	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr8:104132516-104132913	SH-SY5Y	brain:	n/a	n/a
11	STAT3	chr8:104132424-104133083	MCF10A-Er-Src	breast:	n/a	chr8:104132618-104132626
12	FOS	chr8:104132255-104133085	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr8:104132459-104132886	MCF-7	breast:	n/a	n/a
14	GATA3	chr8:104132375-104132863	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104131678..104134497-chr8:104225293..104227549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250929	TF binding region
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1113126	0.88[ASN][1000 genomes]
rs1497449	0.82[ASN][1000 genomes]
rs1497450	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497451	0.84[ASN][1000 genomes]
rs1497452	0.85[ASN][1000 genomes]
rs1846063	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1846064	0.85[ASN][1000 genomes]
rs1976326	0.93[ASN][1000 genomes]
rs2132867	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2249240	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249254	0.85[ASN][1000 genomes]
rs2249256	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454000	0.85[ASN][1000 genomes]
rs2454001	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2454002	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2454003	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454004	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2454005	0.87[ASN][1000 genomes]
rs2454006	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454033	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454037	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454038	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515176	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2515178	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515181	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515182	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515184	0.85[ASN][1000 genomes]
rs2515186	0.85[ASN][1000 genomes]
rs2515190	0.82[ASN][1000 genomes]
rs2935579	0.82[ASN][1000 genomes]
rs3019158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019159	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4734071	0.82[ASN][1000 genomes]
rs4734687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734689	0.82[ASN][1000 genomes]
rs4734690	0.82[ASN][1000 genomes]
rs7001897	0.82[ASN][1000 genomes]
rs953253	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs991312	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv437077	chr8:104132165-104133226	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr8:104119400-104134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:104122000-104134600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:104127400-104133200	Weak transcription	HSMMtube	muscle
4	chr8:104128600-104133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:104128800-104133200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:104128800-104134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:104129000-104133400	Weak transcription	Osteobl	bone
8	chr8:104130800-104133000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:104131000-104135200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:104131200-104134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:104131200-104134000	Enhancers	HMEC	breast
12	chr8:104131200-104136400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104131600-104133400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:104131800-104133200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:104131800-104133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:104132000-104133000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:104132000-104133000	Enhancers	Fetal Intestine Small	intestine
18	chr8:104132000-104133600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:104132000-104133800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:104132000-104134400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:104132200-104133000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:104132200-104133200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:104132200-104133200	Enhancers	NHDF-Ad	bronchial
24	chr8:104132200-104133400	Enhancers	Esophagus	oesophagus
25	chr8:104132200-104134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:104132200-104135600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:104132200-104139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:104132400-104133000	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:104132400-104133200	Enhancers	Brain Angular Gyrus	brain
30	chr8:104132400-104133200	Enhancers	Brain Hippocampus Middle	brain
31	chr8:104132400-104133400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:104132400-104133400	Weak transcription	HSMM	muscle
33	chr8:104132400-104133600	Enhancers	Brain Anterior Caudate	brain
34	chr8:104132400-104134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:104132400-104134600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:104132400-104134600	Weak transcription	HUVEC	blood vessel
37	chr8:104132400-104135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:104132600-104133000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:104132600-104133000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:104132600-104133200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:104132600-104133200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:104132600-104134400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:104132600-104134600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:104132600-104135200	Weak transcription	GM12878-XiMat	blood
45	chr8:104132600-104135200	Weak transcription	NH-A	brain
46	chr8:104132600-104135800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:104132800-104133200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:104132800-104133200	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:104132800-104133600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:104132800-104133800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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