Variant report

Variant	rs73314613
Chromosome Location	chr8:110704116-110704117
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	EGR1	chr8:110703745-110704383	MCF-7	breast:	n/a	chr8:110704025-110704034 chr8:110704024-110704034 chr8:110704024-110704034
2	EGR1	chr8:110703885-110704124	K562	blood:	n/a	chr8:110704025-110704034 chr8:110704024-110704034 chr8:110704024-110704034
3	CTCF	chr8:110703874-110704176	MCF-7	breast:	n/a	n/a
4	MAX	chr8:110703579-110704383	MCF-7	breast:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
5	CTCF	chr8:110704000-110704150	HEK293	kidney:	n/a	n/a
6	MXI1	chr8:110703148-110704275	SK-N-SH	brain:	n/a	chr8:110703740-110703749
7	POLR2A	chr8:110703292-110704175	MCF-7	breast:	n/a	n/a
8	CEBPB	chr8:110703957-110704235	IMR90	lung:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
9	CEBPB	chr8:110703962-110704231	A549	lung:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
10	POLR2A	chr8:110703185-110704395	SK-N-MC	brain:	n/a	n/a
11	EGR1	chr8:110703670-110704301	MCF-7	breast:	n/a	chr8:110704025-110704034 chr8:110704024-110704034 chr8:110704024-110704034
12	CEBPB	chr8:110704001-110704179	HepG2	liver:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
13	CTCF	chr8:110703882-110704188	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr8:110703980-110704130	BE2_C	brain:	n/a	n/a
15	HA-E2F1	chr8:110703541-110704448	MCF-7	breast:	n/a	chr8:110704323-110704332 chr8:110703806-110703816
16	POLR2A	chr8:110703493-110704234	HepG2	liver:	n/a	n/a
17	RAD21	chr8:110703734-110704198	H1-hESC	embryonic stem cell:	n/a	chr8:110703772-110703784 chr8:110704060-110704074
18	CTCF	chr8:110704020-110704170	WERI-Rb-1	eye:	n/a	n/a
19	CHD2	chr8:110703854-110704316	H1-hESC	embryonic stem cell:	n/a	n/a
20	NFIC	chr8:110703692-110704248	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr8:110703202-110704155	H1-hESC	embryonic stem cell:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
22	EGR1	chr8:110703776-110704295	ECC-1	luminal epithelium:	n/a	chr8:110704025-110704034 chr8:110704024-110704034 chr8:110704024-110704034
23	CTCF	chr8:110704020-110704170	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr8:110703173-110704147	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr8:110703648-110704151	ECC-1	luminal epithelium:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
26	CTCF	chr8:110703934-110704128	Medullo	brain:	n/a	n/a
27	MAX	chr8:110703513-110704147	ECC-1	luminal epithelium:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
28	POLR2A	chr8:110703509-110704203	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr8:110703883-110704178	MCF-7	breast:	n/a	n/a
30	CEBPB	chr8:110703765-110704347	H1-hESC	embryonic stem cell:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
31	TCF7L2	chr8:110703726-110704331	MCF-7	breast:	n/a	n/a
32	MAX	chr8:110703196-110704249	HepG2	liver:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
33	CEBPB	chr8:110704018-110704232	K562	blood:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
34	TCF7L2	chr8:110703900-110704201	PANC-1	pancreas:	n/a	n/a
35	CEBPB	chr8:110703864-110704284	ECC-1	luminal epithelium:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
36	CTCF	chr8:110704080-110704230	BE2_C	brain:	n/a	n/a
37	POLR2A	chr8:110703792-110704217	SK-N-MC	brain:	n/a	n/a
38	ZBTB7A	chr8:110703663-110704238	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr8:110703840-110704405	MCF-7	breast:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
40	CTCF	chr8:110704000-110704150	HRPEpiC	eye:	n/a	n/a
41	MAX	chr8:110703688-110704255	MCF-7	breast:	n/a	chr8:110703740-110703751 chr8:110703740-110703750 chr8:110703741-110703750 chr8:110703740-110703750
42	CEBPB	chr8:110703911-110704279	HepG2	liver:	n/a	chr8:110704100-110704111 chr8:110704100-110704109 chr8:110704098-110704109
43	NFIC	chr8:110703765-110704284	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr8:110703992-110704127	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOXP2	chr8:110703752-110704234	SK-N-MC	brain:	n/a	n/a
46	CTCF	chr8:110704000-110704150	SK-N-SH_RA	brain:	n/a	n/a
47	NR2F2	chr8:110703645-110704330	MCF-7	breast:	n/a	n/a
48	EGR1	chr8:110703797-110704264	ECC-1	luminal epithelium:	n/a	chr8:110704025-110704034 chr8:110704024-110704034 chr8:110704024-110704034
49	ZNF143	chr8:110703902-110704175	H1-hESC	embryonic stem cell:	n/a	chr8:110704075-110704085
50	RAD21	chr8:110703915-110704119	H1-hESC	embryonic stem cell:	n/a	chr8:110704060-110704074

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110704080-110704130	Caco-2	colon:	n/a
2	chr8:110704116-110704166	SK-N-MC	brain:	n/a
3	chr8:110704116-110704166	HCM	heart:	n/a
4	chr8:110704116-110704166	HCPEpiC	choroid plexus:	n/a
5	chr8:110704080-110704130	H1-hESC	embryonic stem cell:	embryo
6	chr8:110704080-110704130	Hepatocyte	liver:	n/a
7	chr8:110704116-110704166	MCF10A-Er-Src	breast:	n/a
8	chr8:110704080-110704130	HRE	kidney:	n/a
9	chr8:110704080-110704130	K562	blood:	n/a
10	chr8:110704116-110704166	GM12892	blood:	n/a
11	chr8:110704080-110704130	BE2_C	brain:	n/a
12	chr8:110704080-110704130	PFSK-1	brain:	n/a
13	chr8:110704116-110704166	HEEpiC	esophagus:	n/a
14	chr8:110704080-110704130	CMK	blood:	n/a
15	chr8:110704080-110704130	LNCaP	prostate:	n/a
16	chr8:110704080-110704130	NH-A	brain:	n/a
17	chr8:110704116-110704166	IMR90	lung:	fetal
18	chr8:110704116-110704166	PFSK-1	brain:	n/a
19	chr8:110704080-110704130	SK-N-SH_RA	brain:	n/a
20	chr8:110704116-110704166	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:110704080-110704130	U87	brain:	n/a
22	chr8:110704080-110704130	HCT-116	colon:	n/a
23	chr8:110704116-110704166	BJ	skin:	n/a
24	chr8:110704116-110704166	RPTEC	kidney:	n/a
25	chr8:110704116-110704166	MCF-7	breast:	n/a
26	chr8:110704080-110704130	SAEC	small airway:	n/a
27	chr8:110704116-110704166	SK-N-SH_RA	brain:	n/a
28	chr8:110704080-110704130	PrEC	prostate:	n/a
29	chr8:110704080-110704130	NT2-D1	testis:	n/a
30	chr8:110704116-110704166	HIPEpiC	eye:	n/a
31	chr8:110704116-110704166	HRPEpiC	eye:	n/a
32	chr8:110704080-110704130	IMR90	lung:	fetal
33	chr8:110704080-110704130	AG04450	lung:	fetal
34	chr8:110704116-110704166	LNCaP	prostate:	n/a
35	chr8:110704080-110704130	NHDF-neo	bronchial:	n/a
36	chr8:110704080-110704130	HRPEpiC	eye:	n/a
37	chr8:110704080-110704130	AG04449	skin:	fetal
38	chr8:110704116-110704166	T-47D	breast:	n/a
39	chr8:110704080-110704130	AG09309	skin:	n/a
40	chr8:110704080-110704130	HCPEpiC	choroid plexus:	n/a
41	chr8:110704080-110704130	HRCEpiC	kidney:	n/a
42	chr8:110704116-110704166	CMK	blood:	n/a
43	chr8:110704080-110704130	GM12878	blood:	n/a
44	chr8:110704116-110704166	NH-A	brain:	n/a
45	chr8:110704080-110704130	GM06990	blood:	n/a
46	chr8:110704080-110704130	GM12892	blood:	n/a
47	chr8:110704080-110704130	Jurkat	blood:	n/a
48	chr8:110704080-110704130	GM12891	blood:	n/a
49	chr8:110704116-110704166	GM06990	blood:	n/a
50	chr8:110704116-110704166	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:

Variant related genes	Relation type
SYBU	TF binding region
SYBU	CpG island
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

rs_ID	r²[population]
rs11994641	0.82[AFR][1000 genomes]
rs11994669	0.82[AFR][1000 genomes]
rs58052558	0.82[AFR][1000 genomes]
rs73314610	1.00[AFR][1000 genomes]
rs73321012	0.82[AFR][1000 genomes]
rs73321020	0.82[AFR][1000 genomes]
rs73321049	0.82[AFR][1000 genomes]
rs73321052	0.82[AFR][1000 genomes]
rs73321062	0.82[AFR][1000 genomes]
rs7833977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110701800-110705600	Enhancers	Fetal Brain Male	brain
2	chr8:110702400-110704600	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:110702600-110704400	Active TSS	Brain Angular Gyrus	brain
4	chr8:110702600-110704400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110702600-110704600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:110702600-110705000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:110702800-110704800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:110703000-110704400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:110703000-110704400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:110703000-110704400	Active TSS	Brain Cingulate Gyrus	brain
11	chr8:110703000-110705000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr8:110703200-110704200	Bivalent Enhancer	Liver	Liver
13	chr8:110703200-110704400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:110703200-110704400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:110703200-110704400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr8:110703200-110704400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr8:110703200-110704400	Active TSS	Rectal Smooth Muscle	rectum
18	chr8:110703200-110704400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
19	chr8:110703200-110704600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr8:110703200-110704600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:110703200-110704600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:110703400-110704200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:110703400-110704200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:110703400-110704200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:110703400-110704200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:110703400-110704200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:110703400-110704200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr8:110703400-110704200	Active TSS	Brain Substantia Nigra	brain
31	chr8:110703400-110704200	Active TSS	Fetal Intestine Small	intestine
32	chr8:110703400-110704200	Flanking Active TSS	Pancreas	Pancrea
33	chr8:110703400-110704200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr8:110703400-110704200	Bivalent/Poised TSS	A549	lung
35	chr8:110703400-110704400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:110703400-110704400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:110703400-110704400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:110703400-110704400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr8:110703400-110704400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:110703400-110704400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:110703400-110704400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
42	chr8:110703400-110704400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr8:110703400-110705000	Active TSS	Stomach Smooth Muscle	stomach
44	chr8:110703600-110704200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr8:110703600-110704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:110703600-110704200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:110703600-110704200	Active TSS	Fetal Intestine Large	intestine
48	chr8:110703600-110704200	Flanking Active TSS	Ovary	ovary
49	chr8:110703600-110704200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
50	chr8:110703600-110704200	Active TSS	HepG2	liver

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