Variant report

Variant	rs2777699
Chromosome Location	chr8:130871830-130871831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:130871627-130871952	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:130871740-130871890	HepG2	liver:	n/a	n/a
3	CTCF	chr8:130871740-130871890	HEK293	kidney:	n/a	n/a
4	CTCF	chr8:130871760-130871910	A549	lung:	n/a	n/a
5	CTCF	chr8:130871610-130872096	K562	blood:	n/a	n/a
6	CTCF	chr8:130871637-130871920	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:130871657-130872012	K562	blood:	n/a	n/a
8	RAD21	chr8:130871646-130872052	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:130871802-130871891	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:130871786-130871924	A549	lung:	n/a	n/a
11	CTCF	chr8:130871760-130871910	HCT-116	colon:	n/a	n/a
12	ZBTB33	chr8:130871527-130871942	K562	blood:	n/a	n/a
13	YY1	chr8:130871683-130871986	K562	blood:	n/a	n/a
14	CTCF	chr8:130871720-130871870	Hela-S3	cervix:	n/a	n/a
15	YY1	chr8:130871635-130871887	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr8:130871737-130871879	A549	lung:	n/a	n/a
17	CTCF	chr8:130871778-130871893	MCF-7	breast:	n/a	n/a
18	RAD21	chr8:130871742-130871951	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:130871720-130871870	K562	blood:	n/a	n/a
20	RAD21	chr8:130871790-130871995	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:130871828-130871898	Gliobla	brain:	n/a	n/a
22	CTCF	chr8:130871824-130871911	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:130871764-130871934	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:130871642-130871879	A549	lung:	n/a	n/a
25	CTCF	chr8:130871740-130871890	WERI-Rb-1	eye:	n/a	n/a
26	YY1	chr8:130871719-130871862	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130870326..130872535-chr8:130878958..130881566,2	K562	blood:
2	chr8:130870152..130872253-chr8:130876163..130877875,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243402	TF binding region
ENSG00000200075	Chromatin interaction
ENSG00000243402	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs177113	0.84[ASN][1000 genomes]
rs2449414	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624809	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624810	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624813	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298608	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372984	0.84[ASN][1000 genomes]
rs439184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448220	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs837083	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:130851200-130878600	Weak transcription	Ovary	ovary
8	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
12	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
17	chr8:130855600-130874600	Strong transcription	Liver	Liver
18	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:130862000-130882400	Weak transcription	NHLF	lung
20	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
21	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
22	chr8:130863800-130876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
24	chr8:130864400-130872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:130864400-130876600	Weak transcription	Pancreas	Pancrea
26	chr8:130864400-130876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:130864400-130876800	Weak transcription	Gastric	stomach
28	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:130864600-130882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:130864600-130882400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:130864600-130882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
33	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:130865000-130872000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
36	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
37	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:130865400-130882200	Weak transcription	Brain Germinal Matrix	brain
39	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:130865600-130873200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:130865600-130873200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:130865600-130873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:130866200-130872200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:130866200-130885400	Weak transcription	Stomach Mucosa	stomach
47	chr8:130866400-130873600	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:130866400-130891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:130866600-130872200	Weak transcription	K562	blood
50	chr8:130867000-130872200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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