Variant report

Variant	rs73699978
Chromosome Location	chr8:107669377-107669378
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	IRF1	chr8:107669286-107670232	K562	blood:	n/a	chr8:107669287-107669296 chr8:107669792-107669806
2	MTA3	chr8:107669280-107671306	GM12878	blood:	n/a	n/a
3	CHD1	chr8:107669321-107670189	H1-hESC	embryonic stem cell:	n/a	chr8:107669794-107669804
4	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
5	SIN3A	chr8:107669288-107670885	H1-hESC	embryonic stem cell:	n/a	chr8:107669804-107669815 chr8:107669816-107669829 chr8:107669804-107669817
6	BRCA1	chr8:107669334-107670094	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:107669250-107670347	GM12891	blood:	n/a	n/a
8	IRF3	chr8:107669267-107669451	GM12878	blood:	n/a	chr8:107669287-107669296
9	POLR2A	chr8:107669142-107672076	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:107669330-107671053	GM18951	blood:	n/a	n/a
11	POLR2A	chr8:107669349-107670912	K562	blood:	n/a	n/a
12	POLR2A	chr8:107669347-107670749	HUVEC	blood vessel:	n/a	n/a
13	RCOR1	chr8:107669377-107670195	K562	blood:	n/a	n/a
14	POLR2A	chr8:107669347-107671165	MCF10A-Er-Src	breast:	n/a	n/a
15	RCOR1	chr8:107669278-107670270	K562	blood:	n/a	n/a
16	SIN3AK20	chr8:107669309-107671345	MCF-7	breast:	n/a	n/a
17	TAF1	chr8:107669348-107670343	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr8:107669347-107671124	GM12892	blood:	n/a	n/a
19	ZNF384	chr8:107668854-107670287	K562	blood:	n/a	n/a
20	EP300	chr8:107669367-107669612	GM12878	blood:	n/a	chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
21	MAX	chr8:107669270-107671205	MCF-7	breast:	n/a	chr8:107670065-107670075
22	HA-E2F1	chr8:107669370-107671066	MCF-7	breast:	n/a	n/a
23	ZNF384	chr8:107669369-107670156	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:107669315-107671233	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:
2	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
3	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000146731	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55747837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58418655	1.00[AMR][1000 genomes]
rs58460753	1.00[AMR][1000 genomes]
rs60089085	1.00[AMR][1000 genomes]
rs73699911	1.00[AMR][1000 genomes]
rs73699977	0.90[AFR][1000 genomes]
rs73700001	1.00[AMR][1000 genomes]
rs73702405	1.00[AMR][1000 genomes]
rs73702412	1.00[AMR][1000 genomes]
rs73702419	1.00[AMR][1000 genomes]
rs73702420	1.00[AMR][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	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107661400-107669400	Weak transcription	Esophagus	oesophagus
3	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:107667800-107669400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr8:107668600-107669400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:107668600-107670800	Active TSS	Fetal Kidney	kidney
7	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:107668800-107669400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:107668800-107669400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr8:107668800-107669400	Enhancers	Small Intestine	intestine
11	chr8:107668800-107669400	Flanking Active TSS	NHEK	skin
12	chr8:107668800-107669600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:107668800-107670800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:107668800-107671000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:107668800-107671000	Active TSS	NHDF-Ad	bronchial
16	chr8:107668800-107671200	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:107669000-107669400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:107669000-107669400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:107669000-107669400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr8:107669000-107669400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr8:107669000-107669400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:107669000-107669400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:107669000-107669400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:107669000-107669400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:107669000-107669400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:107669000-107669600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:107669000-107669600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr8:107669000-107669600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:107669000-107669600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:107669000-107669600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr8:107669000-107669600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:107669000-107669600	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr8:107669000-107670000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:107669000-107670600	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:107669000-107671000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:107669000-107671000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:107669000-107671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:107669000-107671000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:107669000-107671000	Active TSS	HMEC	breast
41	chr8:107669000-107671200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:107669000-107671800	Active TSS	Right Atrium	heart
44	chr8:107669000-107671800	Active TSS	K562	blood
45	chr8:107669200-107669400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:107669200-107669400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:107669200-107669400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:107669200-107669400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:107669200-107669400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr8:107669200-107669400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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