Variant report

Variant	rs11777189
Chromosome Location	chr8:99057150-99057151
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:99057068-99058062	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:99055687-99058203	PANC-1	pancreas:	n/a	n/a
3	MAX	chr8:99056948-99057937	A549	lung:	n/a	n/a
4	POLR2A	chr8:99056213-99057274	HepG2	liver:	n/a	n/a
5	SMARCB1	chr8:99056927-99058699	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:99056335-99058089	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:99056290-99058759	HCT-116	colon:	n/a	n/a
8	POLR2A	chr8:99056370-99058124	K562	blood:	n/a	n/a
9	POLR2A	chr8:99056253-99058172	HL-60	blood:	n/a	n/a
10	MXI1	chr8:99057130-99058598	Hela-S3	cervix:	n/a	n/a
11	MYC	chr8:99057069-99058769	NB4	blood:	n/a	n/a
12	POLR2A	chr8:99057092-99058363	ProgFib	skin:	n/a	n/a
13	POLR2A	chr8:99056819-99057335	SK-N-SH	brain:	n/a	n/a
14	MXI1	chr8:99057029-99058734	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:99056293-99058153	GM12892	blood:	n/a	n/a
16	POLR2A	chr8:99054646-99059519	SK-N-MC	brain:	n/a	n/a
17	USF2	chr8:99056360-99057325	Hela-S3	cervix:	n/a	n/a
18	WRNIP1	chr8:99056429-99058027	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:99056345-99058685	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:99056338-99058084	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:99056424-99058804	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:99054198-99058553	PFSK-1	brain:	n/a	n/a
23	GABPA	chr8:99056633-99058990	MCF-7	breast:	n/a	chr8:99057829-99057836
24	MAX	chr8:99056921-99058691	K562	blood:	n/a	n/a
25	POLR2A	chr8:99056479-99058503	PBDE	blood:	n/a	n/a
26	MYC	chr8:99056572-99058043	K562	blood:	n/a	n/a
27	POLR2A	chr8:99056851-99058679	K562	blood:	n/a	n/a
28	SIN3AK20	chr8:99056240-99058965	MCF-7	breast:	n/a	n/a
29	ETS1	chr8:99057108-99058140	A549	lung:	n/a	chr8:99057825-99057835 chr8:99057820-99057836 chr8:99057824-99057835 chr8:99057824-99057833 chr8:99057824-99057833 chr8:99057824-99057833 chr8:99057878-99057887 chr8:99057824-99057833 chr8:99057824-99057833 chr8:99057824-99057833
30	SIN3AK20	chr8:99057110-99058823	MCF-7	breast:	n/a	n/a
31	GATA3	chr8:99057092-99057380	T-47D	breast:	n/a	n/a
32	MXI1	chr8:99056847-99058160	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:99056216-99058186	SK-N-SH	brain:	n/a	n/a
34	MAX	chr8:99057123-99058693	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:99055829-99058844	GM12891	blood:	n/a	n/a
36	CTCF	chr8:99057105-99057342	T-47D	breast:	n/a	n/a
37	MAX	chr8:99057037-99058651	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:99056608-99058173	HCT-116	colon:	n/a	n/a
39	POLR2A	chr8:99056569-99057319	H1-hESC	embryonic stem cell:	n/a	n/a
40	BCL3	chr8:99056339-99058119	A549	lung:	n/a	chr8:99057854-99057863 chr8:99057824-99057833
41	TAF1	chr8:99056413-99057188	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr8:99055809-99058570	GM12892	blood:	n/a	n/a
43	POLR2A	chr8:99055816-99058226	GM12878	blood:	n/a	n/a
44	MAX	chr8:99056834-99058672	A549	lung:	n/a	n/a
45	POLR2A	chr8:99054530-99058884	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr8:99057051-99058123	Hela-S3	cervix:	n/a	n/a
47	TBL1XR1	chr8:99057102-99058028	K562	blood:	n/a	n/a
48	POLR2A	chr8:99056210-99058492	K562	blood:	n/a	n/a
49	POLR2A	chr8:99056784-99058166	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr8:99056999-99058665	GM18951	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99057120-99057170	HL-60	blood:	n/a
2	chr8:99057120-99057170	HepG2	liver:	n/a
3	chr8:99057120-99057170	GM19239	blood:	n/a
4	chr8:99057120-99057170	HEEpiC	esophagus:	n/a
5	chr8:99057120-99057170	NHBE	bronchial:	n/a
6	chr8:99057120-99057170	LNCaP	prostate:	n/a
7	chr8:99057120-99057170	ProgFib	skin:	n/a
8	chr8:99057120-99057170	CMK	blood:	n/a
9	chr8:99057120-99057170	HRPEpiC	eye:	n/a
10	chr8:99057120-99057170	PANC-1	pancreas:	n/a
11	chr8:99057120-99057170	Hela-S3	cervix:	n/a
12	chr8:99057120-99057170	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:99057120-99057170	HCPEpiC	choroid plexus:	n/a
14	chr8:99057120-99057170	PFSK-1	brain:	n/a
15	chr8:99057120-99057170	HCT-116	colon:	n/a
16	chr8:99057120-99057170	HMEC	breast:	n/a
17	chr8:99057120-99057170	Caco-2	colon:	n/a
18	chr8:99057120-99057170	ECC-1	luminal epithelium:	n/a
19	chr8:99057120-99057170	IMR90	lung:	fetal
20	chr8:99057120-99057170	PrEC	prostate:	n/a
21	chr8:99057120-99057170	A549	lung:	n/a
22	chr8:99057120-99057170	GM12878	blood:	n/a
23	chr8:99057120-99057170	NHDF-neo	bronchial:	n/a
24	chr8:99057120-99057170	HRE	kidney:	n/a
25	chr8:99057120-99057170	H1-hESC	embryonic stem cell:	embryo
26	chr8:99057120-99057170	MCF10A-Er-Src	breast:	n/a
27	chr8:99057120-99057170	HEK293	kidney:	embryo
28	chr8:99057120-99057170	MCF-7	breast:	n/a
29	chr8:99057120-99057170	HAEpiC	amniotic membrane:	n/a
30	chr8:99057120-99057170	AG04449	skin:	fetal
31	chr8:99057120-99057170	HNPCEpiC	eye:	n/a
32	chr8:99057120-99057170	NH-A	brain:	n/a
33	chr8:99057120-99057170	AG09309	skin:	n/a
34	chr8:99057120-99057170	SK-N-SH_RA	brain:	n/a
35	chr8:99057120-99057170	SK-N-SH	brain:	n/a
36	chr8:99057120-99057170	AoSMC	blood vessel:	n/a
37	chr8:99057120-99057170	AG09319	gingival:	n/a
38	chr8:99057120-99057170	GM06990	blood:	n/a
39	chr8:99057120-99057170	K562	blood:	n/a
40	chr8:99057120-99057170	HCM	heart:	n/a
41	chr8:99057120-99057170	RPTEC	kidney:	n/a
42	chr8:99057120-99057170	SAEC	small airway:	n/a
43	chr8:99057120-99057170	HCF	heart:	n/a
44	chr8:99057120-99057170	T-47D	breast:	n/a
45	chr8:99057120-99057170	SK-N-MC	brain:	n/a
46	chr8:99057120-99057170	NB4	blood:	n/a
47	chr8:99057120-99057170	ovcar-3	ovarian:	n/a
48	chr8:99057120-99057170	GM12892	blood:	n/a
49	chr8:99057120-99057170	HIPEpiC	eye:	n/a
50	chr8:99057120-99057170	GM12891	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99039510..99041898-chr8:99055972..99058591,2	K562	blood:
2	chr8:99054883..99058427-chr8:99128521..99131598,4	K562	blood:
3	chr8:98799001..98802379-chr8:99056110..99059171,3	K562	blood:
4	chr16:4420182..4421961-chr8:99056269..99057971,2	MCF-7	breast:
5	chr8:99054385..99060040-chr8:99125093..99131908,20	MCF-7	breast:
6	chr8:98961024..98963389-chr8:99054505..99057436,2	MCF-7	breast:
7	chr8:99056458..99057178-chr8:99129514..99130067,2	MCF-7	breast:
8	chr8:98880240..98884584-chr8:99054888..99058750,6	MCF-7	breast:
9	chr8:99055858..99058755-chr8:99126907..99132454,7	K562	blood:
10	chr1:149816826..149819259-chr8:99056422..99059164,2	MCF-7	breast:
11	chr8:99055062..99058733-chr8:99305548..99307498,3	MCF-7	breast:
12	chr8:98787259..98790021-chr8:99056219..99059277,4	MCF-7	breast:
13	chr8:99054555..99060747-chr8:99127722..99132697,23	MCF-7	breast:
14	chr7:105750764..105753718-chr8:99056330..99059303,2	MCF-7	breast:
15	chr8:87524372..87527585-chr8:99056393..99058902,3	MCF-7	breast:
16	chr17:57914601..57916569-chr8:99057138..99058947,2	MCF-7	breast:
17	chr8:99056304..99059597-chr8:99060333..99064411,5	K562	blood:
18	chr8:99054937..99059484-chr8:99117612..99122860,5	MCF-7	breast:
19	chr8:99056634..99059248-chr8:99059651..99063296,8	MCF-7	breast:
20	chr16:769309..771169-chr8:99056941..99058600,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL30	TF binding region
RNU6-703P	TF binding region
SNORA72	TF binding region
RNU6-703P	CpG island
RPL30	CpG island
SNORA72	CpG island
ENSG00000103254	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000270682	Chromatin interaction
ENSG00000168140	Chromatin interaction
ENSG00000104341	Chromatin interaction
ENSG00000104361	Chromatin interaction
ENSG00000252755	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000132561	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000008282	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10098159	1.00[ASN][1000 genomes]
rs10955141	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955142	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955145	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955146	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955147	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11559201	1.00[ASN][1000 genomes]
rs11559202	1.00[ASN][1000 genomes]
rs11776602	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784449	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785807	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990341	0.83[ASN][1000 genomes]
rs11991161	1.00[ASN][1000 genomes]
rs11996042	1.00[ASN][1000 genomes]
rs11997426	1.00[ASN][1000 genomes]
rs12544193	1.00[ASN][1000 genomes]
rs12549802	1.00[ASN][1000 genomes]
rs12549967	1.00[ASN][1000 genomes]
rs12550104	1.00[ASN][1000 genomes]
rs13248865	1.00[ASN][1000 genomes]
rs13254615	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254737	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265127	1.00[ASN][1000 genomes]
rs13268951	1.00[ASN][1000 genomes]
rs13269757	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13274382	1.00[ASN][1000 genomes]
rs13279197	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13439743	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896517	1.00[ASN][1000 genomes]
rs2279120	1.00[ASN][1000 genomes]
rs2290467	1.00[ASN][1000 genomes]
rs2290468	1.00[ASN][1000 genomes]
rs2290469	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877453	0.91[AFR][1000 genomes]
rs3088121	1.00[ASN][1000 genomes]
rs34139241	1.00[ASN][1000 genomes]
rs34276726	1.00[ASN][1000 genomes]
rs34899856	1.00[ASN][1000 genomes]
rs35417638	1.00[ASN][1000 genomes]
rs3758031	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55698139	0.92[AFR][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57866232	1.00[ASN][1000 genomes]
rs60324498	1.00[ASN][1000 genomes]
rs68116021	0.83[ASN][1000 genomes]
rs68131553	1.00[ASN][1000 genomes]
rs6985709	1.00[ASN][1000 genomes]
rs6986891	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987112	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004993	1.00[ASN][1000 genomes]
rs7012838	1.00[ASN][1000 genomes]
rs7016999	1.00[ASN][1000 genomes]
rs71514975	1.00[ASN][1000 genomes]
rs72678742	1.00[ASN][1000 genomes]
rs9918865	0.85[AMR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99054400-99057400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
2	chr8:99054400-99057400	Transcr. at gene 5' and 3'	A549	lung
3	chr8:99054600-99057200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
4	chr8:99054600-99057200	Transcr. at gene 5' and 3'	K562	blood
5	chr8:99054600-99057200	Transcr. at gene 5' and 3'	NHEK	skin
6	chr8:99054800-99057200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
7	chr8:99054800-99057400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:99055000-99057200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr8:99055000-99059000	Active TSS	Right Ventricle	heart
10	chr8:99055200-99058600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:99055200-99059200	Active TSS	GM12878-XiMat	blood
12	chr8:99055800-99057200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
13	chr8:99055800-99057200	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr8:99055800-99057400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
15	chr8:99055800-99057400	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr8:99055800-99059000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:99056000-99057200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:99056000-99057400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:99056000-99057400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:99056000-99057600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:99056000-99059400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:99056200-99057200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:99056200-99057200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:99056200-99057200	Flanking Active TSS	Liver	Liver
25	chr8:99056200-99057200	Flanking Active TSS	Fetal Brain Female	brain
26	chr8:99056200-99057200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
27	chr8:99056200-99057800	Transcr. at gene 5' and 3'	Fetal Lung	lung
28	chr8:99056200-99059000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:99056400-99057200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
30	chr8:99056400-99057200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:99056400-99057200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:99056400-99057200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr8:99056400-99057200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:99056400-99057200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:99056400-99057200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:99056400-99057200	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr8:99056400-99057200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr8:99056400-99057200	Flanking Active TSS	Fetal Brain Male	brain
39	chr8:99056400-99057200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:99056400-99057200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:99056400-99057200	Flanking Active TSS	NHLF	lung
42	chr8:99056400-99058800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:99056400-99058800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:99056400-99058800	Active TSS	Lung	lung
45	chr8:99056400-99058800	Active TSS	Pancreas	Pancrea
46	chr8:99056400-99058800	Bivalent/Poised TSS	HepG2	liver
47	chr8:99056400-99059000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:99056400-99059000	Active TSS	Ovary	ovary
49	chr8:99056400-99059000	Active TSS	Right Atrium	heart
50	chr8:99056600-99057200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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