Variant report

Variant	rs73700647
Chromosome Location	chr8:110551622-110551623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:249)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:249 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:110551347-110551869	U87	brain:	n/a	n/a
2	RFX5	chr8:110551040-110553109	IMR90	lung:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
3	FOXP2	chr8:110551596-110552591	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr8:110551395-110552982	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr8:110551289-110553000	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:110551463-110552974	GM12892	blood:	n/a	n/a
7	E2F6	chr8:110551615-110551997	H1-hESC	embryonic stem cell:	n/a	chr8:110551901-110551910
8	POLR2A	chr8:110551477-110553154	IMR90	lung:	n/a	n/a
9	POLR2A	chr8:110550770-110554098	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:110551203-110553149	K562	blood:	n/a	n/a
11	CHD1	chr8:110551350-110551769	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr8:110551525-110553038	K562	blood:	n/a	n/a
13	POLR2A	chr8:110550972-110553228	SK-N-MC	brain:	n/a	n/a
14	IRF1	chr8:110551326-110552660	K562	blood:	n/a	chr8:110551900-110551914
15	POLR2A	chr8:110551244-110552959	PFSK-1	brain:	n/a	n/a
16	GABPA	chr8:110551407-110553063	MCF-7	breast:	n/a	chr8:110552125-110552134 chr8:110552030-110552039 chr8:110551901-110551910 chr8:110552088-110552097
17	ZMIZ1	chr8:110551550-110551791	K562	blood:	n/a	n/a
18	MAZ	chr8:110551242-110552961	K562	blood:	n/a	n/a
19	HCFC1	chr8:110551609-110552786	K562	blood:	n/a	n/a
20	MAX	chr8:110551530-110553000	SK-N-SH	brain:	n/a	n/a
21	BRCA1	chr8:110551169-110551837	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr8:110551135-110553681	GM12878	blood:	n/a	n/a
23	NR2F2	chr8:110551257-110552985	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:110551162-110553182	SK-N-MC	brain:	n/a	n/a
25	ZNF143	chr8:110551507-110551790	K562	blood:	n/a	n/a
26	MAX	chr8:110551404-110553038	HepG2	liver:	n/a	n/a
27	RFX5	chr8:110551337-110552645	GM12878	blood:	n/a	chr8:110551778-110551787
28	POLR2A	chr8:110551155-110552708	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr8:110551437-110551876	H1-hESC	embryonic stem cell:	n/a	n/a
30	PML	chr8:110551590-110551820	GM12878	blood:	n/a	n/a
31	E2F6	chr8:110551429-110552713	H1-hESC	embryonic stem cell:	n/a	chr8:110552125-110552134 chr8:110552271-110552282 chr8:110552072-110552086 chr8:110552272-110552284 chr8:110551901-110551910 chr8:110552568-110552577
32	MAX	chr8:110551192-110552995	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:110551572-110551883	A549	lung:	n/a	n/a
34	TAF1	chr8:110551425-110551825	H1-hESC	embryonic stem cell:	n/a	n/a
35	EP300	chr8:110551514-110552601	T-47D	breast:	n/a	chr8:110552092-110552108 chr8:110552019-110552032
36	MAX	chr8:110551194-110553003	NB4	blood:	n/a	n/a
37	POLR2A	chr8:110551559-110551832	HepG2	liver:	n/a	n/a
38	MXI1	chr8:110551567-110553006	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr8:110551575-110552701	GM12878	blood:	n/a	n/a
40	E2F6	chr8:110551536-110551849	K562	blood:	n/a	n/a
41	HEY1	chr8:110551459-110551876	K562	blood:	n/a	n/a
42	CBX3	chr8:110551177-110551893	K562	blood:	n/a	n/a
43	HA-E2F1	chr8:110551295-110552930	MCF-7	breast:	n/a	chr8:110552125-110552134 chr8:110552072-110552086 chr8:110552272-110552284 chr8:110551901-110551910 chr8:110552568-110552577
44	POLR2A	chr8:110551427-110551888	HCT-116	colon:	n/a	n/a
45	POLR2A	chr8:110551495-110552864	MCF-7	breast:	n/a	n/a
46	POLR2A	chr8:110551539-110551889	HepG2	liver:	n/a	n/a
47	POLR2A	chr8:110551490-110552814	A549	lung:	n/a	n/a
48	MYC	chr8:110551492-110552994	K562	blood:	n/a	n/a
49	SIN3AK20	chr8:110551330-110553098	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:110551333-110553207	GM19099	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110551578-110551628	SK-N-SH	brain:	n/a
2	chr8:110551578-110551628	HCF	heart:	n/a
3	chr8:110551578-110551628	LNCaP	prostate:	n/a
4	chr8:110551578-110551628	GM19239	blood:	n/a
5	chr8:110551578-110551628	GM12891	blood:	n/a
6	chr8:110551578-110551628	K562	blood:	n/a
7	chr8:110551578-110551628	CMK	blood:	n/a
8	chr8:110551578-110551628	HEEpiC	esophagus:	n/a
9	chr8:110551578-110551628	HCT-116	colon:	n/a
10	chr8:110551578-110551628	MCF10A-Er-Src	breast:	n/a
11	chr8:110551578-110551628	U87	brain:	n/a
12	chr8:110551578-110551628	HUVEC	blood vessel:	n/a
13	chr8:110551578-110551628	HRCEpiC	kidney:	n/a
14	chr8:110551578-110551628	Hepatocyte	liver:	n/a
15	chr8:110551578-110551628	HL-60	blood:	n/a
16	chr8:110551578-110551628	BE2_C	brain:	n/a
17	chr8:110551578-110551628	RPTEC	kidney:	n/a
18	chr8:110551578-110551628	BJ	skin:	n/a
19	chr8:110551578-110551628	AG09319	gingival:	n/a
20	chr8:110551578-110551628	SK-N-MC	brain:	n/a
21	chr8:110551578-110551628	HEK293	kidney:	embryo
22	chr8:110551578-110551628	ProgFib	skin:	n/a
23	chr8:110551578-110551628	NH-A	brain:	n/a
24	chr8:110551578-110551628	HepG2	liver:	n/a
25	chr8:110551578-110551628	Caco-2	colon:	n/a
26	chr8:110551578-110551628	SAEC	small airway:	n/a
27	chr8:110551578-110551628	A549	lung:	n/a
28	chr8:110551578-110551628	AoSMC	blood vessel:	n/a
29	chr8:110551578-110551628	PFSK-1	brain:	n/a
30	chr8:110551578-110551628	IMR90	lung:	fetal
31	chr8:110551578-110551628	GM12892	blood:	n/a
32	chr8:110551578-110551628	HRPEpiC	eye:	n/a
33	chr8:110551578-110551628	ovcar-3	ovarian:	n/a
34	chr8:110551578-110551628	AG09309	skin:	n/a
35	chr8:110551578-110551628	HNPCEpiC	eye:	n/a
36	chr8:110551578-110551628	SKMC	muscle:	n/a
37	chr8:110551578-110551628	AG04449	skin:	fetal
38	chr8:110551578-110551628	AG04450	lung:	fetal
39	chr8:110551578-110551628	H1-hESC	embryonic stem cell:	embryo
40	chr8:110551578-110551628	HCM	heart:	n/a
41	chr8:110551578-110551628	PrEC	prostate:	n/a
42	chr8:110551578-110551628	GM06990	blood:	n/a
43	chr8:110551578-110551628	T-47D	breast:	n/a
44	chr8:110551578-110551628	GM12878	blood:	n/a
45	chr8:110551578-110551628	HIPEpiC	eye:	n/a
46	chr8:110551578-110551628	MCF-7	breast:	n/a
47	chr8:110551578-110551628	ECC-1	luminal epithelium:	n/a
48	chr8:110551578-110551628	AG10803	skin:	n/a
49	chr8:110551578-110551628	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:110551578-110551628	HMEC	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
4	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
5	chr5:34007844..34008795-chr8:110551477..110552035,2	NB4	blood:
6	chr8:110550506..110554029-chr8:110560195..110563108,6	MCF-7	breast:
7	chr8:110534700..110536974-chr8:110550583..110552787,3	MCF-7	breast:
8	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:
9	chr8:110532422..110535509-chr8:110550359..110553902,3	K562	blood:
10	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
11	chr8:110491337..110493958-chr8:110550109..110551629,2	MCF-7	breast:
12	chr8:110551172..110552900-chr8:110613869..110616553,2	MCF-7	breast:
13	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
14	chr8:110345283..110346986-chr8:110550788..110552919,3	MCF-7	breast:
15	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
16	chr8:110490813..110493110-chr8:110549363..110552380,3	MCF-7	breast:
17	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
18	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

No data

Variant related genes	Relation type
EBAG9	TF binding region
EBAG9	CpG island
ENSG00000205038	Chromatin interaction
ENSG00000242110	Chromatin interaction
ENSG00000254185	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16879775	0.93[EUR][1000 genomes]
rs4313129	1.00[EUR][1000 genomes]
rs60319372	1.00[EUR][1000 genomes]
rs721076	0.93[EUR][1000 genomes]
rs7819565	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110550800-110553400	Active TSS	Colonic Mucosa	Colon
2	chr8:110550800-110553600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:110551000-110553000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:110551200-110551800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:110551200-110551800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:110551200-110551800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:110551200-110551800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:110551200-110551800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:110551200-110551800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:110551200-110552000	Active TSS	Right Atrium	heart
14	chr8:110551200-110552200	Active TSS	Aorta	Aorta
15	chr8:110551200-110552800	Active TSS	Brain Cingulate Gyrus	brain
16	chr8:110551200-110553000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:110551200-110553000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:110551200-110553000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:110551200-110553000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:110551200-110553000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:110551200-110553000	Active TSS	Brain Angular Gyrus	brain
22	chr8:110551200-110553000	Active TSS	Brain Hippocampus Middle	brain
23	chr8:110551200-110553000	Active TSS	Fetal Muscle Trunk	muscle
24	chr8:110551200-110553000	Active TSS	Left Ventricle	heart
25	chr8:110551200-110553000	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:110551200-110553200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:110551200-110553200	Active TSS	Brain Substantia Nigra	brain
28	chr8:110551200-110553400	Active TSS	Fetal Stomach	stomach
29	chr8:110551200-110553400	Active TSS	Stomach Mucosa	stomach
30	chr8:110551200-110553600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:110551200-110553600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:110551200-110553600	Active TSS	Psoas Muscle	Psoas
33	chr8:110551200-110553600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr8:110551200-110553800	Active TSS	Brain Anterior Caudate	brain
35	chr8:110551200-110553800	Active TSS	Pancreas	Pancrea
36	chr8:110551200-110553800	Active TSS	Right Ventricle	heart
37	chr8:110551200-110554000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:110551200-110554000	Active TSS	NHDF-Ad	bronchial
39	chr8:110551400-110551800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:110551400-110552800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:110551400-110552800	Active TSS	Fetal Brain Male	brain
42	chr8:110551400-110552800	Active TSS	Fetal Lung	lung
43	chr8:110551400-110552800	Active TSS	Gastric	stomach
44	chr8:110551400-110553000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:110551400-110553000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:110551400-110553000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:110551400-110553000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:110551400-110553000	Active TSS	Esophagus	oesophagus
49	chr8:110551400-110553000	Active TSS	Lung	lung
50	chr8:110551400-110553000	Active TSS	Ovary	ovary

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