Variant report

Variant	rs7534595
Chromosome Location	chr1:224805153-224805154
allele	C/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	MAX	chr1:224804476-224805789	H1-hESC	embryonic stem cell:	n/a	chr1:224805041-224805050
2	CTCF	chr1:224805020-224805170	HRE	kidney:	n/a	n/a
3	MAX	chr1:224804681-224805180	SK-N-SH	brain:	n/a	chr1:224805041-224805050
4	MAX	chr1:224803269-224805331	H1-hESC	embryonic stem cell:	n/a	chr1:224803735-224803742 chr1:224805041-224805050
5	E2F6	chr1:224803256-224805378	H1-hESC	embryonic stem cell:	n/a	chr1:224803938-224803952 chr1:224803665-224803675 chr1:224804409-224804424 chr1:224805253-224805265
6	E2F6	chr1:224803117-224805791	H1-hESC	embryonic stem cell:	n/a	chr1:224803938-224803952 chr1:224803665-224803675 chr1:224804409-224804424 chr1:224805253-224805265
7	SUZ12	chr1:224804113-224806096	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr1:224803557-224806095	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr1:224803428-224806408	NT2-D1	testis:	n/a	n/a
10	CTCF	chr1:224805040-224805190	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224760255..224762194-chr1:224803067..224805853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233384	TF binding region
ENSG00000229991	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10799588	0.88[ASN][1000 genomes]
rs11802812	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57209437	0.93[ASN][1000 genomes]
rs58565730	0.93[ASN][1000 genomes]
rs59018094	0.80[ASN][1000 genomes]
rs59610983	0.93[ASN][1000 genomes]
rs59643307	0.93[ASN][1000 genomes]
rs61247305	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6657458	0.93[ASN][1000 genomes]
rs6693360	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7539939	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7550112	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224803200-224805800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:224803200-224805800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:224803200-224806400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:224803200-224806400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr1:224803200-224807000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:224803200-224807000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:224803200-224807200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224803200-224807400	Active TSS	NHDF-Ad	bronchial
9	chr1:224803400-224805200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr1:224803400-224805200	Flanking Active TSS	Gastric	stomach
11	chr1:224803400-224805400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:224803400-224805800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:224803400-224805800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:224803400-224806800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr1:224803600-224805200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr1:224803600-224805200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
17	chr1:224803600-224805200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr1:224803600-224805400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:224803600-224805600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:224803600-224805800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:224803600-224805800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224803600-224806200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr1:224803600-224806400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:224803800-224805400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:224803800-224805400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:224803800-224805800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:224803800-224806200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:224803800-224806200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:224803800-224807800	Active TSS	NH-A	brain
30	chr1:224804000-224805400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:224804200-224805200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:224804200-224805200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr1:224804200-224805200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:224804200-224805200	Bivalent Enhancer	Lung	lung
35	chr1:224804200-224805200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr1:224804200-224805200	Bivalent Enhancer	Spleen	Spleen
37	chr1:224804200-224805400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr1:224804200-224805400	Flanking Bivalent TSS/Enh	Dnd41	blood
39	chr1:224804200-224805600	Bivalent Enhancer	Liver	Liver
40	chr1:224804200-224806000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:224804200-224806200	Bivalent/Poised TSS	Fetal Kidney	kidney
42	chr1:224804400-224805200	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:224804400-224805200	Bivalent Enhancer	Fetal Heart	heart
44	chr1:224804400-224805200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr1:224804400-224805200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr1:224804400-224805400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr1:224804400-224805800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:224804400-224806000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr1:224804400-224806000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:224804400-224806400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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