Variant report

Variant	rs16833808
Chromosome Location	chr1:152020455-152020456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:596)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:152019957-152021109	K562	blood:	n/a	n/a
2	FOXA1	chr1:152020074-152021275	T-47D	breast:	n/a	n/a
3	CTCF	chr1:152020440-152020590	AG09309	skin:	n/a	n/a
4	MAFF	chr1:152020364-152020951	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:152020201-152020970	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr1:152020180-152021037	GM12878	blood:	n/a	n/a
7	TAF1	chr1:152020144-152021234	A549	lung:	n/a	n/a
8	CTCF	chr1:152020379-152020645	GM12892	blood:	n/a	n/a
9	JUN	chr1:152020343-152021146	H1-hESC	embryonic stem cell:	n/a	chr1:152020740-152020749
10	GATA3	chr1:152019972-152021348	T-47D	breast:	n/a	n/a
11	RAD21	chr1:152019966-152021390	MCF-7	breast:	n/a	chr1:152021081-152021094 chr1:152021077-152021091
12	MAX	chr1:152019922-152021446	A549	lung:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
13	CTCF	chr1:152020440-152020590	AG09319	gingival:	n/a	n/a
14	CTCF	chr1:152020380-152020530	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr1:152020202-152020829	K562	blood:	n/a	n/a
16	CTCF	chr1:152020440-152020590	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:152020323-152020930	GM12891	blood:	n/a	n/a
18	MYC	chr1:152020116-152021197	NB4	blood:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
19	RAD21	chr1:152020239-152020828	A549	lung:	n/a	n/a
20	CTCF	chr1:152020400-152020550	HMEC	breast:	n/a	n/a
21	GATA3	chr1:152019956-152021301	T-47D	breast:	n/a	n/a
22	FOS	chr1:152019923-152021270	Hela-S3	cervix:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020738-152020749 chr1:152020740-152020749 chr1:152020040-152020052
23	EP300	chr1:152019861-152021390	SK-N-SH	brain:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
24	RCOR1	chr1:152019971-152021140	K562	blood:	n/a	n/a
25	RCOR1	chr1:152020201-152020991	K562	blood:	n/a	n/a
26	CEBPD	chr1:152020264-152021055	K562	blood:	n/a	n/a
27	FOXM1	chr1:152019964-152021000	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr1:152020420-152020570	NHLF	lung:	n/a	n/a
29	MAZ	chr1:152019912-152021212	K562	blood:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
30	ATF1	chr1:152020348-152020940	K562	blood:	n/a	n/a
31	POLR2A	chr1:152018623-152021659	Hela-S3	cervix:	n/a	n/a
32	E2F6	chr1:152020406-152020857	K562	blood:	n/a	n/a
33	RAD21	chr1:152020226-152020858	A549	lung:	n/a	n/a
34	CTCF	chr1:152020440-152020590	RPTEC	kidney:	n/a	n/a
35	POLR2A	chr1:152020048-152021245	HepG2	liver:	n/a	n/a
36	RELA	chr1:152020294-152021015	GM19099	blood:	n/a	n/a
37	POLR2A	chr1:152019898-152021246	GM19099	blood:	n/a	n/a
38	CTCF	chr1:152020388-152020632	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:152020420-152020570	AG09309	skin:	n/a	n/a
40	EP300	chr1:152019943-152021273	T-47D	breast:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
41	POLR2A	chr1:152020351-152020952	GM12878	blood:	n/a	n/a
42	SP1	chr1:152019721-152021469	HCT-116	colon:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
43	POLR2A	chr1:152020049-152021212	MCF-7	breast:	n/a	n/a
44	TCF12	chr1:152019873-152021262	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr1:152019846-152021305	PBDE	blood:	n/a	n/a
46	POLR2A	chr1:152020425-152020596	HepG2	liver:	n/a	n/a
47	NR2F2	chr1:152020219-152021042	K562	blood:	n/a	n/a
48	TCF12	chr1:152019827-152021390	SK-N-SH	brain:	n/a	n/a
49	RCOR1	chr1:152020345-152020858	HepG2	liver:	n/a	n/a
50	RUNX3	chr1:152020243-152020908	GM12878	blood:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152020362..152021095-chr20:2632694..2633653,2	Hela-S3	cervix:
2	chr1:152020360..152021339-chr20:32950573..32951350,2	Hela-S3	cervix:
3	chr1:152019969..152020515-chr3:157827889..157828399,2	HCT-116	colon:
4	chr1:152019809..152020692-chr2:204103454..204104050,2	Hela-S3	cervix:
5	chr1:152008963..152009611-chr1:152019837..152020846,5	MCF-7	breast:
6	chr1:152019751..152020609-chr5:179050208..179051005,2	Hela-S3	cervix:
7	chr1:111505728..111506386-chr1:152020291..152021095,2	Hela-S3	cervix:
8	chr1:152018576..152021368-chr17:59488179..59489785,2	MCF-7	breast:
9	chr1:152019899..152022172-chr1:152059534..152062643,3	MCF-7	breast:
10	chr1:152020231..152020741-chr3:132379339..132380060,2	Hela-S3	cervix:
11	chr1:152020163..152020789-chr7:21984823..21985554,2	Hela-S3	cervix:
12	chr1:152008903..152009724-chr1:152019997..152020937,3	Hela-S3	cervix:
13	chr1:152008867..152009685-chr1:152020383..152020929,2	MCF-7	breast:
14	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
15	chr1:152020298..152021242-chr6:31774403..31775006,2	Hela-S3	cervix:
16	chr1:152020097..152020904-chr6:26157752..26158409,2	NB4	blood:
17	chr1:28974726..28975392-chr1:152020243..152020937,2	Hela-S3	cervix:
18	chr1:152020062..152020731-chrX:13752528..13753449,2	Hela-S3	cervix:
19	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:
20	chr1:152020439..152021055-chr20:62321461..62322455,2	Hela-S3	cervix:
21	chr1:152020401..152021001-chr6:36562077..36562754,2	Hela-S3	cervix:
22	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
23	chr1:152019311..152021605-chr1:152136763..152140691,3	MCF-7	breast:
24	chr1:151881661..151883557-chr1:152019981..152021490,2	K562	blood:
25	chr1:152020439..152020945-chr20:55810084..55810868,2	MCF-7	breast:
26	chr1:151797506..151800180-chr1:152018704..152020909,2	MCF-7	breast:
27	chr1:152020176..152022085-chr1:152129939..152131843,2	MCF-7	breast:
28	chr1:152020083..152020779-chr11:59436443..59437077,2	NB4	blood:
29	chr1:151483025..151485659-chr1:152019731..152022240,2	MCF-7	breast:
30	chr1:152020051..152020614-chr11:8704065..8704810,2	Hela-S3	cervix:
31	chr1:152007524..152008240-chr1:152020437..152021287,2	MCF-7	breast:
32	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

No data

Variant related genes	Relation type
S100A11	TF binding region
ENSG00000240303	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000273010	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000046651	Chromatin interaction
ENSG00000215853	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000164649	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000119004	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000078747	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000237975	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000101361	Chromatin interaction
ENSG00000196459	Chromatin interaction
ENSG00000221062	Chromatin interaction
ENSG00000081307	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000174891	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000182898	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10494271	0.85[AMR][1000 genomes]
rs13374107	1.00[EUR][1000 genomes]
rs13374906	1.00[EUR][1000 genomes]
rs13375166	1.00[EUR][1000 genomes]
rs13375962	1.00[EUR][1000 genomes]
rs16833656	1.00[EUR][1000 genomes]
rs16833804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833817	1.00[EUR][1000 genomes]
rs16833835	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56179963	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56365520	1.00[EUR][1000 genomes]
rs56399868	1.00[EUR][1000 genomes]
rs59596794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60251684	1.00[EUR][1000 genomes]
rs60438363	0.85[AMR][1000 genomes]
rs61697019	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74126720	1.00[EUR][1000 genomes]
rs74126729	1.00[EUR][1000 genomes]
rs74126732	1.00[EUR][1000 genomes]
rs74126760	1.00[EUR][1000 genomes]
rs74126777	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74126785	0.84[AFR][1000 genomes]
rs74126788	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74126790	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129506	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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 target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152018000-152020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:152018000-152021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:152018600-152020600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:152018600-152021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:152019200-152020600	Enhancers	Pancreas	Pancrea
6	chr1:152019200-152020600	Flanking Active TSS	Hela-S3	cervix
7	chr1:152019200-152021200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:152019400-152021200	Flanking Active TSS	HMEC	breast
9	chr1:152019400-152021400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:152019400-152021800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:152019600-152021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:152019800-152020600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:152019800-152020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr1:152019800-152020600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:152019800-152020600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:152019800-152020600	Flanking Active TSS	NH-A	brain
17	chr1:152019800-152020600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:152019800-152020600	Flanking Active TSS	NHLF	lung
19	chr1:152019800-152021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:152019800-152021000	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr1:152019800-152021000	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:152019800-152021200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:152019800-152021200	Flanking Active TSS	Dnd41	blood
24	chr1:152019800-152021200	Flanking Active TSS	HSMMtube	muscle
25	chr1:152019800-152021200	Flanking Active TSS	Osteobl	bone
26	chr1:152019800-152021400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:152019800-152021400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:152019800-152021400	Flanking Active TSS	K562	blood
29	chr1:152019800-152022600	Enhancers	Small Intestine	intestine
30	chr1:152020000-152020600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:152020000-152020600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:152020000-152020600	Enhancers	Fetal Muscle Leg	muscle
33	chr1:152020000-152020600	Flanking Active TSS	Placenta	Placenta
34	chr1:152020000-152020800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr1:152020000-152021000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:152020000-152021000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:152020000-152021000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:152020000-152021000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr1:152020000-152021000	Enhancers	Fetal Lung	lung
40	chr1:152020000-152021000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:152020000-152021000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:152020000-152021200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:152020000-152021200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:152020000-152021200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:152020000-152021200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:152020000-152021200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:152020000-152021200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:152020000-152021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:152020000-152021200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:152020000-152021200	Flanking Active TSS	Colonic Mucosa	Colon

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