Variant report

Variant	rs17215366
Chromosome Location	chr1:161016801-161016802
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:161015359-161016829	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:161014496-161017041	IMR90	lung:	n/a	n/a
3	NFIC	chr1:161015405-161016833	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:161014678-161018455	GM18505	blood:	n/a	n/a
5	POLR2A	chr1:161016776-161017299	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:161014603-161018080	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr1:161015576-161016911	GM12878	blood:	n/a	chr1:161016643-161016657
8	POLR2A	chr1:161014375-161017763	GM12878	blood:	n/a	n/a
9	MTA3	chr1:161014325-161017601	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:161014475-161018415	GM12892	blood:	n/a	n/a
11	BRCA1	chr1:161015609-161016824	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:161014643-161019294	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:161016765-161016948	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:161016763-161017059	HCT-116	colon:	n/a	n/a
15	POLR2A	chr1:161014798-161017138	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:161015236-161017094	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr1:161014905-161017696	MCF10A-Er-Src	breast:	n/a	n/a
18	CHD2	chr1:161015534-161016920	K562	blood:	n/a	n/a
19	POLR2A	chr1:161014559-161018477	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:161015481-161016846	HCT-116	colon:	n/a	n/a
21	POLR2A	chr1:161014545-161019636	GM12892	blood:	n/a	n/a
22	HCFC1	chr1:161014027-161016818	Hela-S3	cervix:	n/a	n/a
23	SIN3A	chr1:161014282-161016801	GM12878	blood:	n/a	chr1:161015720-161015728 chr1:161015266-161015277
24	POLR2A	chr1:161016757-161016821	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:161014539-161020077	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:161015388-161016912	GM12892	blood:	n/a	n/a
27	POLR2A	chr1:161016707-161017107	PFSK-1	brain:	n/a	n/a
28	BCLAF1	chr1:161015414-161017058	GM12878	blood:	n/a	chr1:161015816-161015825 chr1:161015765-161015774
29	POLR2A	chr1:161014613-161017593	GM12891	blood:	n/a	n/a
30	STAT5A	chr1:161014375-161017198	GM12878	blood:	n/a	chr1:161014773-161014784 chr1:161015988-161015997 chr1:161015462-161015474 chr1:161015361-161015369 chr1:161014779-161014790 chr1:161015987-161015996
31	FOXM1	chr1:161014490-161016925	GM12878	blood:	n/a	chr1:161015827-161015835
32	SPI1	chr1:161016287-161016838	HL-60	blood:	n/a	n/a
33	IKZF1	chr1:161016304-161016827	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:161014682-161017621	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr1:161014662-161018344	GM12892	blood:	n/a	n/a
36	MTA3	chr1:161015301-161017013	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:161016725-161016974	GM12878	blood:	n/a	n/a
38	RELA	chr1:161015496-161016842	GM19099	blood:	n/a	n/a
39	POLR2A	chr1:161014845-161017752	MCF10A-Er-Src	breast:	n/a	n/a
40	SP1	chr1:161016280-161016808	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:161014679-161019283	GM12891	blood:	n/a	n/a
42	POLR2A	chr1:161015366-161016947	U87	brain:	n/a	n/a
43	POLR2A	chr1:161014709-161016938	GM19193	blood:	n/a	n/a
44	POLR2A	chr1:161014590-161019264	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:161014618-161017034	GM19099	blood:	n/a	n/a
46	IRF4	chr1:161015932-161016805	GM12878	blood:	n/a	n/a
47	REST	chr1:161013920-161016847	H1-neurons	neurons:	n/a	chr1:161015428-161015437
48	TBL1XR1	chr1:161015544-161017116	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:161016692-161016997	GM12878	blood:	n/a	n/a
50	CHD2	chr1:161015298-161016995	GM12878	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161016360..161018809-chr1:161057728..161060348,2	MCF-7	breast:
2	chr1:161015777..161017370-chr1:161134889..161137797,2	K562	blood:
3	chr1:161013722..161017299-chr1:161066199..161071039,5	MCF-7	breast:
4	chr1:160990576..160992373-chr1:161014612..161018487,6	K562	blood:
5	chr1:161013470..161017562-chr1:161084888..161088962,4	MCF-7	breast:
6	chr1:160989663..160992818-chr1:161011844..161017868,15	MCF-7	breast:
7	chr1:161014972..161017157-chr1:161051557..161054618,4	MCF-7	breast:
8	chr1:161016538..161018729-chr1:161068752..161071676,2	K562	blood:
9	chr1:161013542..161018278-chr1:161100825..161104206,7	MCF-7	breast:
10	chr1:161015334..161017315-chr1:161043865..161045880,2	MCF-7	breast:
11	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
12	chr1:161012196..161017661-chr1:161066183..161070852,8	MCF-7	breast:
13	chr1:161015658..161017550-chr1:161101051..161103879,2	K562	blood:
14	chr1:161015316..161018134-chr1:161085942..161088191,3	K562	blood:
15	chr1:161016767..161018493-chr1:161123152..161124875,2	K562	blood:
16	chr1:161014200..161017793-chr1:161057956..161063190,6	MCF-7	breast:
17	chr1:161014674..161017488-chr19:12900939..12902636,2	MCF-7	breast:
18	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:
19	chr1:161013674..161020196-chr1:161084642..161090709,10	MCF-7	breast:
20	chr1:161015894..161017735-chr21:33302300..33304162,2	MCF-7	breast:
21	chr1:161015820..161018500-chr14:21736377..21738014,2	MCF-7	breast:
22	chr1:161011339..161013490-chr1:161016100..161018968,3	K562	blood:
23	chr1:161014785..161017336-chr1:161283873..161286388,3	K562	blood:
24	chr1:161014566..161017528-chr1:161100154..161103523,4	K562	blood:
25	chr1:160988929..160992185-chr1:161012707..161018170,8	MCF-7	breast:
26	chr1:160989721..160993044-chr1:161014364..161019082,7	K562	blood:
27	chr1:161015326..161017095-chr1:161122085..161124023,2	MCF-7	breast:
28	chr1:161015352..161017179-chr1:161086691..161088320,2	K562	blood:

No data

Variant related genes	Relation type
USF1	TF binding region
ENSG00000158769	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000228917	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12567886	1.00[AMR][1000 genomes]
rs17221763	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656547	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73019791	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548032	1.00[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161014000-161017200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:161014400-161017000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:161014600-161017000	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:161014600-161017200	Active TSS	Duodenum Mucosa	Duodenum
5	chr1:161014800-161017000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:161016000-161017000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:161016000-161017000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:161016200-161017000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:161016200-161017200	Weak transcription	Spleen	Spleen
10	chr1:161016200-161022600	Weak transcription	Gastric	stomach
11	chr1:161016400-161017000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:161016400-161017000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:161016400-161017000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:161016400-161017000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:161016400-161017000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr1:161016400-161017000	Genic enhancers	Fetal Thymus	thymus
17	chr1:161016400-161017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:161016400-161017400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:161016400-161017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:161016400-161017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:161016400-161017400	Weak transcription	Lung	lung
22	chr1:161016400-161017600	Weak transcription	Aorta	Aorta
23	chr1:161016400-161017800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:161016400-161017800	Weak transcription	Esophagus	oesophagus
25	chr1:161016400-161018200	Enhancers	Placenta	Placenta
26	chr1:161016400-161018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:161016400-161018800	Weak transcription	Pancreas	Pancrea
28	chr1:161016400-161018800	Weak transcription	Right Atrium	heart
29	chr1:161016400-161020800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:161016400-161022600	Weak transcription	Small Intestine	intestine
31	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
32	chr1:161016600-161017000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:161016600-161017000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:161016600-161017000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:161016600-161017000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:161016600-161017000	Enhancers	Hela-S3	cervix
37	chr1:161016600-161017200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:161016600-161017200	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:161016600-161017200	Enhancers	Stomach Mucosa	stomach
40	chr1:161016600-161017400	Weak transcription	Thymus	Thymus
41	chr1:161016600-161017600	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr1:161016600-161017600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:161016600-161017600	Enhancers	Adipose Nuclei	Adipose
44	chr1:161016600-161017600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:161016600-161018800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:161016600-161019400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr1:161016600-161020200	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr1:161016600-161022200	Weak transcription	Brain Anterior Caudate	brain
49	chr1:161016600-161024200	Weak transcription	Right Ventricle	heart
50	chr1:161016600-161028000	Weak transcription	Brain Substantia Nigra	brain

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