Variant report

Variant	rs11558862
Chromosome Location	chr1:151171381-151171382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 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	chr1:151170688-151171661	K562	blood:	n/a	n/a
2	MYC	chr1:151170746-151171745	NB4	blood:	n/a	chr1:151171346-151171356 chr1:151170927-151170936
3	YY1	chr1:151170657-151171852	GM12878	blood:	n/a	chr1:151171348-151171357 chr1:151171464-151171481
4	TAF1	chr1:151170605-151171658	PFSK-1	brain:	n/a	n/a
5	FOXM1	chr1:151170531-151171537	GM12878	blood:	n/a	n/a
6	YY1	chr1:151170738-151171762	HepG2	liver:	n/a	chr1:151171348-151171357 chr1:151171464-151171481
7	TAF1	chr1:151170864-151171610	GM12892	blood:	n/a	n/a
8	BACH1	chr1:151170528-151171682	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:151170306-151171649	Hela-S3	cervix:	n/a	chr1:151171346-151171356 chr1:151170927-151170936
10	CTCF	chr1:151171280-151171430	Caco-2	colon:	n/a	chr1:151171342-151171355
11	POLR2A	chr1:151170632-151171821	GM12892	blood:	n/a	n/a
12	MTA3	chr1:151170182-151171937	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:151170553-151171816	PANC-1	pancreas:	n/a	n/a
14	YY1	chr1:151170668-151171775	SK-N-SH_RA	brain:	n/a	chr1:151171348-151171357 chr1:151171464-151171481
15	POLR2A	chr1:151171378-151171610	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:151170617-151171701	GM18505	blood:	n/a	n/a
17	CEBPB	chr1:151170318-151171425	GM12878	blood:	n/a	n/a
18	TCF7L2	chr1:151170777-151171887	HCT-116	colon:	n/a	chr1:151171516-151171530
19	EP300	chr1:151170357-151171543	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr1:151170646-151171634	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:151170497-151171813	PFSK-1	brain:	n/a	n/a
22	FOXM1	chr1:151170574-151171869	GM12878	blood:	n/a	n/a
23	MAX	chr1:151170427-151171613	GM12878	blood:	n/a	chr1:151171346-151171356 chr1:151170927-151170936
24	POLR2A	chr1:151170518-151172240	GM12878	blood:	n/a	n/a
25	TAF1	chr1:151170878-151171651	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:151170229-151171841	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:151170226-151171953	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:151170384-151171707	HEK293	kidney:	n/a	n/a
29	TAF1	chr1:151170644-151171759	H1-neurons	neurons:	n/a	n/a
30	YY1	chr1:151171183-151171721	A549	lung:	n/a	chr1:151171348-151171357 chr1:151171464-151171481
31	MAX	chr1:151170382-151171686	K562	blood:	n/a	chr1:151171346-151171356 chr1:151170927-151170936
32	TBP	chr1:151170157-151171636	HepG2	liver:	n/a	n/a
33	STAT5A	chr1:151170358-151171842	GM12878	blood:	n/a	chr1:151171350-151171362 chr1:151171363-151171387 chr1:151170754-151170762
34	POLR2A	chr1:151170504-151171614	K562	blood:	n/a	n/a
35	MYBL2	chr1:151170565-151171710	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:151170218-151171838	HepG2	liver:	n/a	n/a
37	CHD1	chr1:151170750-151171726	H1-hESC	embryonic stem cell:	n/a	chr1:151171671-151171681 chr1:151171349-151171359
38	CHD2	chr1:151171325-151171573	K562	blood:	n/a	chr1:151171349-151171359
39	POLR2A	chr1:151170584-151171750	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:151170688-151171693	NB4	blood:	n/a	n/a
41	ZBTB7A	chr1:151171325-151171675	K562	blood:	n/a	n/a
42	ZKSCAN1	chr1:151170096-151171463	Hela-S3	cervix:	n/a	n/a
43	MYC	chr1:151171297-151171381	HepG2	liver:	n/a	chr1:151171346-151171356
44	TCF12	chr1:151170318-151171891	A549	lung:	n/a	chr1:151171278-151171286
45	POLR2A	chr1:151170617-151171792	GM18526	blood:	n/a	n/a
46	POLR2A	chr1:151170662-151171516	HUVEC	blood vessel:	n/a	n/a
47	SIN3AK20	chr1:151170040-151171936	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:151170547-151171718	HCT-116	colon:	n/a	n/a
49	TAF1	chr1:151170664-151171750	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:151170443-151172086	PFSK-1	brain:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
2	chr1:151171270..151173891-chr1:151252685..151255060,3	K562	blood:
3	1:151171193-151178589..1:151246650-151254384	GM12878	blood:
4	chr1:151170179..151172284-chr1:151482238..151485195,2	MCF-7	breast:
5	chr1:151169497..151174843-chr1:151224312..151231181,18	MCF-7	breast:
6	chr1:151171256..151175527-chr1:151178181..151182275,7	MCF-7	breast:
7	chr1:151162057..151164706-chr1:151165181..151172008,8	K562	blood:
8	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
9	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
10	chr1:11740690..11741426-chr1:151171013..151171603,2	Hela-S3	cervix:
11	1:151171193-151178589..1:151254384-151268403	Hela-S3	cervix:
12	chr1:151166432..151169145-chr1:151169439..151172527,5	MCF-7	breast:
13	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
14	chr1:151170967..151173717-chr1:151426450..151428273,2	MCF-7	breast:
15	chr1:151165541..151174157-chr1:151252015..151257857,16	MCF-7	breast:
16	chr1:150979099..150980863-chr1:151170963..151172486,2	MCF-7	breast:
17	1:151171193-151178589..1:151203965-151215310	GM12878	blood:
18	chr1:151156826..151164982-chr1:151165389..151172985,25	MCF-7	breast:
19	chr1:151136716..151140911-chr1:151168778..151172657,5	MCF-7	breast:
20	1:151171193-151178589..1:151368336-151375897	Hela-S3	cervix:
21	chr1:151171136..151172895-chr1:151252862..151254583,2	K562	blood:
22	chr1:151168724..151174586-chr1:151252405..151256834,10	MCF-7	breast:
23	chr1:151170674..151172337-chr8:125550185..125552873,2	MCF-7	breast:
24	chr1:151170947..151171577-chr10:95720817..95721593,2	Hela-S3	cervix:
25	chr1:151170127..151171898-chr10:95720093..95723081,2	MCF-7	breast:
26	chr1:151171114..151172618-chr15:89662367..89664545,2	MCF-7	breast:
27	chr1:151136857..151140256-chr1:151168802..151172321,4	MCF-7	breast:
28	1:151171193-151178589..1:151496437-151509688	Hela-S3	cervix:
29	chr1:151170887..151173171-chr1:151225503..151227858,2	K562	blood:
30	chr1:151147180..151151121-chr1:151169846..151172495,3	MCF-7	breast:
31	1:151171193-151178589..1:151270864-151283078	K562	blood:
32	1:151171193-151178589..1:151618750-151636526	Hela-S3	cervix:
33	chr1:150229637..150231508-chr1:151169443..151171733,2	MCF-7	breast:
34	chr1:151169931..151174343-chr1:151224824..151227591,5	MCF-7	breast:
35	chr1:151169798..151173171-chr1:151225503..151227858,3	K562	blood:
36	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:

No data

Variant related genes	Relation type
VPS72	TF binding region
ENSG00000232671	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000116670	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000163157	Chromatin interaction
ENSG00000180764	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000239151	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000223861	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12731168	1.00[MKK][hapmap]
rs12757785	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 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	chr1:151167000-151172000	Active TSS	Colonic Mucosa	Colon
2	chr1:151170000-151173000	Active TSS	Esophagus	oesophagus
3	chr1:151170200-151171400	Active TSS	Brain Germinal Matrix	brain
4	chr1:151170200-151173200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:151170200-151173200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:151170200-151173200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:151170200-151173200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:151170200-151173200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:151170200-151173200	Active TSS	Right Ventricle	heart
10	chr1:151170200-151173400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:151170200-151173600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:151170400-151172000	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:151170400-151172800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr1:151170400-151173000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151170400-151173000	Active TSS	Psoas Muscle	Psoas
16	chr1:151170400-151173000	Active TSS	Right Atrium	heart
17	chr1:151170400-151173200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:151170400-151173200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:151170400-151173200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:151170400-151173200	Active TSS	Aorta	Aorta
21	chr1:151170400-151173200	Active TSS	Ovary	ovary
22	chr1:151170600-151171800	Active TSS	Brain Hippocampus Middle	brain
23	chr1:151170600-151171800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:151170600-151172000	Active TSS	Brain Angular Gyrus	brain
25	chr1:151170600-151172000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:151170600-151172000	Active TSS	Colon Smooth Muscle	Colon
27	chr1:151170600-151172000	Active TSS	Fetal Brain Male	brain
28	chr1:151170600-151172000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:151170600-151172000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:151170600-151172000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:151170600-151172200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:151170600-151172200	Active TSS	Brain Anterior Caudate	brain
33	chr1:151170600-151172200	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:151170600-151172200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:151170600-151172200	Active TSS	Fetal Brain Female	brain
36	chr1:151170600-151172200	Active TSS	Fetal Lung	lung
37	chr1:151170600-151172200	Active TSS	Pancreas	Pancrea
38	chr1:151170600-151172200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:151170600-151172200	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:151170600-151172200	Active TSS	Thymus	Thymus
41	chr1:151170600-151172400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:151170600-151172400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:151170600-151172400	Active TSS	Fetal Stomach	stomach
44	chr1:151170600-151172400	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:151170600-151172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:151170600-151172600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:151170600-151172600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151170600-151172600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:151170600-151172800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:151170600-151172800	Bivalent/Poised TSS	HepG2	liver

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