Variant report

Variant	rs11204789
Chromosome Location	chr1:151227482-151227483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:61)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:151226719-151227770	A549	lung:	n/a	chr1:151227300-151227310 chr1:151227152-151227159
2	GABPA	chr1:151226829-151227646	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:151227360-151227510	WERI-Rb-1	eye:	n/a	chr1:151227482-151227491
4	CTCF	chr1:151227440-151227590	K562	blood:	n/a	chr1:151227482-151227491
5	TAF1	chr1:151226857-151227650	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr1:151226796-151227722	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:151226947-151227555	HepG2	liver:	n/a	n/a
8	ELF1	chr1:151226949-151227511	K562	blood:	n/a	n/a
9	POLR2A	chr1:151226847-151227484	GM18526	blood:	n/a	n/a
10	SIN3AK20	chr1:151226913-151227527	HepG2	liver:	n/a	n/a
11	TAF1	chr1:151226889-151227498	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:151226939-151227584	Gliobla	brain:	n/a	n/a
13	MAX	chr1:151226816-151227508	ECC-1	luminal epithelium:	n/a	chr1:151227428-151227437
14	GABPA	chr1:151226796-151227503	HL-60	blood:	n/a	n/a
15	MAZ	chr1:151226963-151227598	HepG2	liver:	n/a	chr1:151227428-151227437
16	POLR2A	chr1:151226780-151227606	GM12878	blood:	n/a	n/a
17	MAFF	chr1:151227056-151227500	K562	blood:	n/a	n/a
18	STAT1	chr1:151227029-151227591	GM12878	blood:	n/a	chr1:151227300-151227312
19	SPI1	chr1:151227387-151227665	GM12878	blood:	n/a	chr1:151227576-151227589
20	MAX	chr1:151226994-151227509	K562	blood:	n/a	chr1:151227428-151227437
21	POLR2A	chr1:151226907-151227546	A549	lung:	n/a	n/a
22	MAX	chr1:151226976-151227563	GM12878	blood:	n/a	chr1:151227428-151227437
23	RCOR1	chr1:151226889-151227502	K562	blood:	n/a	n/a
24	POLR2A	chr1:151226918-151227604	GM12891	blood:	n/a	n/a
25	JUND	chr1:151226932-151227638	A549	lung:	n/a	chr1:151227429-151227437 chr1:151227429-151227437 chr1:151227430-151227437 chr1:151227428-151227438
26	POLR2A	chr1:151226800-151227842	K562	blood:	n/a	n/a
27	POLR2A	chr1:151226929-151227551	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr1:151227043-151227610	MCF10A-Er-Src	breast:	n/a	chr1:151227429-151227437 chr1:151227429-151227437 chr1:151227430-151227437 chr1:151227428-151227438 chr1:151227427-151227438
29	ELF1	chr1:151226779-151227631	HCT-116	colon:	n/a	n/a
30	UBTF	chr1:151227294-151227818	K562	blood:	n/a	n/a
31	POLR2A	chr1:151226780-151227691	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:151226867-151227677	Hela-S3	cervix:	n/a	n/a
33	TAF1	chr1:151226852-151227654	A549	lung:	n/a	n/a
34	EP300	chr1:151226795-151227579	A549	lung:	n/a	n/a
35	GTF2F1	chr1:151226962-151227550	K562	blood:	n/a	n/a
36	POLR2A	chr1:151226927-151227683	K562	blood:	n/a	n/a
37	POLR2A	chr1:151226872-151227640	GM19099	blood:	n/a	n/a
38	POLR2A	chr1:151226905-151227561	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:151226935-151227783	HepG2	liver:	n/a	n/a
40	TAF1	chr1:151226859-151227652	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr1:151226798-151227595	MCF-7	breast:	n/a	n/a
42	IRF1	chr1:151226910-151227646	K562	blood:	n/a	n/a
43	RUNX3	chr1:151226845-151227602	GM12878	blood:	n/a	n/a
44	YY1	chr1:151226864-151227639	SK-N-SH_RA	brain:	n/a	chr1:151227250-151227267
45	SIN3AK20	chr1:151226852-151227617	PANC-1	pancreas:	n/a	n/a
46	SP1	chr1:151226684-151227648	A549	lung:	n/a	chr1:151227140-151227151
47	POLR2A	chr1:151226934-151227532	K562	blood:	n/a	n/a
48	POLR2A	chr1:151226959-151227556	GM12878	blood:	n/a	n/a
49	MYC	chr1:151226960-151227609	K562	blood:	n/a	chr1:151227428-151227437
50	POLR2A	chr1:151226818-151227757	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151227456-151227506	GM19239	blood:	n/a
2	chr1:151227456-151227506	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:151227456-151227506	SK-N-SH	brain:	n/a
4	chr1:151227456-151227506	ProgFib	skin:	n/a
5	chr1:151227456-151227506	PANC-1	pancreas:	n/a
6	chr1:151227456-151227506	MCF-7	breast:	n/a
7	chr1:151227456-151227506	HEEpiC	esophagus:	n/a
8	chr1:151227456-151227506	HEK293	kidney:	embryo
9	chr1:151227456-151227506	HUVEC	blood vessel:	n/a
10	chr1:151227456-151227506	Hepatocyte	liver:	n/a
11	chr1:151227456-151227506	AG04449	skin:	fetal
12	chr1:151227456-151227506	HL-60	blood:	n/a
13	chr1:151227456-151227506	HIPEpiC	eye:	n/a
14	chr1:151227456-151227506	BE2_C	brain:	n/a
15	chr1:151227456-151227506	CMK	blood:	n/a
16	chr1:151227456-151227506	PrEC	prostate:	n/a
17	chr1:151227456-151227506	AG09319	gingival:	n/a
18	chr1:151227456-151227506	AG10803	skin:	n/a
19	chr1:151227456-151227506	HCM	heart:	n/a
20	chr1:151227456-151227506	MCF10A-Er-Src	breast:	n/a
21	chr1:151227456-151227506	AG04450	lung:	fetal
22	chr1:151227456-151227506	A549	lung:	n/a
23	chr1:151227456-151227506	GM06990	blood:	n/a
24	chr1:151227456-151227506	BJ	skin:	n/a
25	chr1:151227456-151227506	HNPCEpiC	eye:	n/a
26	chr1:151227456-151227506	SK-N-SH_RA	brain:	n/a
27	chr1:151227456-151227506	NT2-D1	testis:	n/a
28	chr1:151227456-151227506	IMR90	lung:	fetal
29	chr1:151227456-151227506	HRPEpiC	eye:	n/a
30	chr1:151227456-151227506	NH-A	brain:	n/a
31	chr1:151227456-151227506	U87	brain:	n/a
32	chr1:151227456-151227506	HRE	kidney:	n/a
33	chr1:151227456-151227506	GM12892	blood:	n/a
34	chr1:151227456-151227506	Caco-2	colon:	n/a
35	chr1:151227456-151227506	SKMC	muscle:	n/a
36	chr1:151227456-151227506	HCT-116	colon:	n/a
37	chr1:151227456-151227506	K562	blood:	n/a
38	chr1:151227456-151227506	NHBE	bronchial:	n/a
39	chr1:151227456-151227506	HMEC	breast:	n/a
40	chr1:151227456-151227506	ECC-1	luminal epithelium:	n/a
41	chr1:151227456-151227506	SK-N-MC	brain:	n/a
42	chr1:151227456-151227506	HCPEpiC	choroid plexus:	n/a
43	chr1:151227456-151227506	RPTEC	kidney:	n/a
44	chr1:151227456-151227506	H1-hESC	embryonic stem cell:	embryo
45	chr1:151227456-151227506	GM12891	blood:	n/a
46	chr1:151227456-151227506	Jurkat	blood:	n/a
47	chr1:151227456-151227506	GM12878	blood:	n/a
48	chr1:151227456-151227506	NHDF-neo	bronchial:	n/a
49	chr1:151227456-151227506	HCF	heart:	n/a
50	chr1:151227456-151227506	LNCaP	prostate:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151222463..151229121-chr1:151253476..151256667,10	MCF-7	breast:
2	chr1:151104720..151106721-chr1:151225505..151227550,2	MCF-7	breast:
3	chr1:151225447..151227979-chr1:151803297..151804971,2	K562	blood:
4	1:151219411-151234038..1:151592347-151603110	K562	blood:
5	chr1:151206751..151209661-chr1:151226917..151228541,2	MCF-7	breast:
6	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
7	chr1:151227186..151227783-chr14:39639648..39640179,2	Hela-S3	cervix:
8	chr1:151225998..151229280-chr1:151252382..151256725,6	K562	blood:
9	chr1:150540144..150542642-chr1:151226920..151228835,2	MCF-7	breast:
10	chr1:151042160..151045059-chr1:151225748..151228568,3	MCF-7	breast:
11	chr1:151227366..151229777-chr1:151235774..151240152,4	MCF-7	breast:
12	chr1:151161246..151164199-chr1:151225509..151227562,3	K562	blood:
13	chr1:151227143..151227783-chr12:54673413..54674303,2	Hela-S3	cervix:
14	chr1:151225526..151228725-chr1:151252382..151257550,9	K562	blood:
15	chr1:151169798..151173171-chr1:151225503..151227858,3	K562	blood:
16	chr1:151226153..151228488-chr1:151257371..151260075,3	MCF-7	breast:
17	chr1:151225781..151228745-chr1:151734591..151737226,2	K562	blood:
18	chr1:151225633..151229215-chr1:151231593..151235514,4	MCF-7	breast:
19	chr1:151227089..151227808-chr18:20714954..20715598,2	MCF-7	breast:
20	chr1:151167452..151169662-chr1:151226503..151228827,3	MCF-7	breast:
21	chr1:151170887..151173171-chr1:151225503..151227858,2	K562	blood:
22	chr1:151227020..151227760-chr20:24972743..24973473,2	Hela-S3	cervix:
23	chr1:151227165..151227737-chr7:156685771..156686493,2	Hela-S3	cervix:
24	chr1:151227140..151228672-chr1:151298695..151301256,3	MCF-7	breast:
25	chr1:151128133..151130862-chr1:151227086..151228869,2	MCF-7	breast:
26	chr1:151225972..151227496-chr2:65354463..65357441,2	MCF-7	breast:
27	chr1:151030654..151033886-chr1:151224560..151228363,4	MCF-7	breast:
28	chr1:151227100..151227668-chr1:151253722..151254586,2	Hela-S3	cervix:
29	chr1:151227344..151229684-chr1:151430136..151432199,2	MCF-7	breast:
30	chr1:151138869..151140924-chr1:151225967..151227871,3	MCF-7	breast:
31	chr1:151227011..151227565-chr1:153507831..153508764,2	Hela-S3	cervix:
32	chr1:151169497..151174843-chr1:151224312..151231181,18	MCF-7	breast:
33	chr1:151194841..151197149-chr1:151227139..151228688,2	MCF-7	breast:
34	chr1:151070659..151073129-chr1:151227300..151229103,2	K562	blood:
35	chr1:151227405..151229115-chr1:151495245..151498217,2	MCF-7	breast:
36	chr1:151225665..151228952-chr1:151371435..151373604,4	MCF-7	breast:
37	chr1:151227043..151228858-chr1:151234009..151236435,4	MCF-7	breast:
38	chr1:151227176..151229508-chr1:151236755..151239128,4	MCF-7	breast:
39	chr1:151224415..151228832-chr1:151251866..151257138,17	MCF-7	breast:
40	chr1:151169931..151174343-chr1:151224824..151227591,5	MCF-7	breast:
41	chr1:151227446..151230112-chr1:151236325..151238335,2	K562	blood:
42	chr1:151226585..151228583-chr1:151736339..151739285,2	MCF-7	breast:
43	chr1:151158002..151164153-chr1:151224298..151228623,7	MCF-7	breast:
44	chr1:151148514..151150724-chr1:151226205..151227908,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD4	TF binding region
PSMD4	CpG island
ENSG00000143436	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000138069	Chromatin interaction
ENSG00000094916	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000134508	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000163157	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000101474	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000105983	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11204788	1.00[AMR][1000 genomes]
rs11204790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204797	1.00[AMR][1000 genomes]
rs11204799	1.00[AMR][1000 genomes]
rs11204800	1.00[AMR][1000 genomes]
rs11204801	1.00[AMR][1000 genomes]
rs11204802	1.00[AMR][1000 genomes]
rs11204804	1.00[AMR][1000 genomes]
rs12057875	1.00[AMR][1000 genomes]
rs12058806	1.00[AMR][1000 genomes]
rs12065050	1.00[AMR][1000 genomes]
rs12071605	1.00[AMR][1000 genomes]
rs12073695	1.00[AMR][1000 genomes]
rs12077026	1.00[AMR][1000 genomes]
rs12077958	1.00[AMR][1000 genomes]
rs12080668	1.00[AMR][1000 genomes]
rs12082248	1.00[AMR][1000 genomes]
rs12086389	1.00[AMR][1000 genomes]
rs12087802	1.00[AMR][1000 genomes]
rs12090291	1.00[AMR][1000 genomes]
rs12092749	1.00[AMR][1000 genomes]
rs12094954	1.00[AMR][1000 genomes]
rs61751621	1.00[AMR][1000 genomes]
rs9887870	1.00[AMR][1000 genomes]

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	chr1:151226400-151227800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:151226600-151227600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:151226600-151227600	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:151226600-151227800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:151226600-151227800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:151226600-151227800	Active TSS	Primary B cells from peripheral blood	blood
7	chr1:151226600-151227800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:151226600-151227800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:151226600-151227800	Active TSS	Brain Anterior Caudate	brain
10	chr1:151226600-151227800	Active TSS	Brain Hippocampus Middle	brain
11	chr1:151226600-151227800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:151226600-151227800	Active TSS	Brain Substantia Nigra	brain
13	chr1:151226600-151227800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr1:151226600-151227800	Active TSS	Fetal Brain Female	brain
15	chr1:151226600-151227800	Active TSS	Fetal Muscle Leg	muscle
16	chr1:151226600-151227800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:151226600-151227800	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:151226600-151228000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:151226600-151228000	Active TSS	Colonic Mucosa	Colon
20	chr1:151226600-151228000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:151226600-151228000	Active TSS	Fetal Intestine Large	intestine
22	chr1:151226600-151228000	Active TSS	Fetal Muscle Trunk	muscle
23	chr1:151226600-151228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:151226600-151228200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:151226600-151228200	Active TSS	Right Atrium	heart
26	chr1:151226600-151228200	Active TSS	Right Ventricle	heart
27	chr1:151226600-151228400	Active TSS	Psoas Muscle	Psoas
28	chr1:151226600-151228600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:151226600-151228600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:151226800-151227600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:151226800-151227600	Active TSS	Adipose Nuclei	Adipose
32	chr1:151226800-151227600	Active TSS	Fetal Kidney	kidney
33	chr1:151226800-151227600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:151226800-151227600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:151226800-151227600	Active TSS	Spleen	Spleen
36	chr1:151226800-151227800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:151226800-151227800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:151226800-151227800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:151226800-151227800	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:151226800-151227800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:151226800-151227800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:151226800-151227800	Active TSS	Liver	Liver
43	chr1:151226800-151227800	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:151226800-151227800	Active TSS	Colon Smooth Muscle	Colon
45	chr1:151226800-151227800	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:151226800-151227800	Active TSS	Fetal Lung	lung
47	chr1:151226800-151227800	Active TSS	Fetal Stomach	stomach
48	chr1:151226800-151227800	Active TSS	NH-A	brain
49	chr1:151226800-151227800	Active TSS	Osteobl	bone
50	chr1:151226800-151228000	Active TSS	H1 Cell Line	embryonic stem cell

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