Variant report

Variant	rs16832808
Chromosome Location	chr1:161284760-161284761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161283823-161284772	GM18526	blood:	n/a	n/a
2	CTCF	chr1:161284620-161284770	RPTEC	kidney:	n/a	n/a
3	POLR2A	chr1:161283828-161284826	HepG2	liver:	n/a	n/a
4	CTCF	chr1:161284620-161284770	GM12801	blood:	n/a	n/a
5	REST	chr1:161283712-161284803	HL-60	blood:	n/a	chr1:161284691-161284701
6	TAF1	chr1:161283745-161284777	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:161284580-161284763	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:161283447-161285014	K562	blood:	n/a	n/a
9	CTCF	chr1:161284475-161284856	IMR90	lung:	n/a	n/a
10	GABPA	chr1:161283614-161284857	A549	lung:	n/a	n/a
11	IRF1	chr1:161283725-161284768	K562	blood:	n/a	n/a
12	CBX3	chr1:161283741-161284850	K562	blood:	n/a	n/a
13	TAF1	chr1:161283634-161284862	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr1:161283486-161284915	A549	lung:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
15	CTCF	chr1:161284457-161284881	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:161284456-161284821	HepG2	liver:	n/a	n/a
17	CTCF	chr1:161284471-161284830	K562	blood:	n/a	n/a
18	MAZ	chr1:161283527-161284828	K562	blood:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
19	CTCF	chr1:161284553-161284778	NHEK	skin:	n/a	n/a
20	POLR2A	chr1:161283832-161284773	GM18951	blood:	n/a	n/a
21	CTCF	chr1:161284720-161284870	HAc	cerebellar:	n/a	n/a
22	POLR2A	chr1:161283552-161284798	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:161283834-161284767	GM12878	blood:	n/a	n/a
24	ZNF143	chr1:161283957-161284831	GM12878	blood:	n/a	chr1:161284115-161284133
25	POLR2A	chr1:161283796-161284936	Hela-S3	cervix:	n/a	n/a
26	IRF1	chr1:161283779-161284896	K562	blood:	n/a	n/a
27	POLR2A	chr1:161283483-161284884	K562	blood:	n/a	n/a
28	POLR2A	chr1:161283388-161284946	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:161284407-161284787	HepG2	liver:	n/a	n/a
30	CTCF	chr1:161284587-161284779	GM12891	blood:	n/a	n/a
31	MTA3	chr1:161283381-161284768	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:161283648-161284825	K562	blood:	n/a	n/a
33	POLR2A	chr1:161283737-161285000	PBDE	blood:	n/a	n/a
34	POLR2A	chr1:161283589-161284958	HUVEC	blood vessel:	n/a	n/a
35	RAD21	chr1:161284549-161284829	HepG2	liver:	n/a	n/a
36	MAX	chr1:161283377-161284823	K562	blood:	n/a	chr1:161284098-161284107 chr1:161283820-161283830
37	POLR2A	chr1:161283820-161284819	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:161283367-161284804	HepG2	liver:	n/a	n/a
39	CTCF	chr1:161284620-161284770	AG04450	lung:	n/a	n/a
40	POLR2A	chr1:161283538-161284852	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr1:161283832-161284857	H1-neurons	neurons:	n/a	n/a
42	GABPA	chr1:161283499-161284984	MCF-7	breast:	n/a	n/a
43	MYBL2	chr1:161283688-161284792	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:161283853-161284801	K562	blood:	n/a	n/a
45	MAZ	chr1:161283927-161284762	HepG2	liver:	n/a	chr1:161284098-161284107
46	YY1	chr1:161283901-161284815	GM12878	blood:	n/a	chr1:161284136-161284150 chr1:161284152-161284166 chr1:161284135-161284144 chr1:161284185-161284205 chr1:161284149-161284163
47	SMARCC2	chr1:161283576-161284909	Hela-S3	cervix:	n/a	n/a
48	E2F4	chr1:161284597-161284884	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:161283750-161285306	IMR90	lung:	n/a	n/a
50	POLR2A	chr1:161283569-161284799	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161014785..161017336-chr1:161283873..161286388,3	K562	blood:
2	chr1:161282416..161286426-chr1:161334773..161339073,4	K562	blood:
3	chr1:161177155..161181241-chr1:161281992..161286131,5	K562	blood:
4	chr1:161282812..161285638-chr1:161335844..161339793,4	MCF-7	breast:
5	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
6	chr1:161284338..161286990-chr1:161287610..161289670,3	MCF-7	breast:
7	chr1:161183575..161186410-chr1:161283060..161284793,2	K562	blood:
8	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
9	chr1:161284181..161285749-chr1:161296030..161299261,3	K562	blood:
10	chr1:161275235..161277911-chr1:161283525..161285261,2	MCF-7	breast:
11	chr1:161284112..161286514-chr1:161369211..161371355,2	K562	blood:
12	chr1:161282488..161284782-chr1:161336079..161338046,2	MCF-7	breast:
13	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:

No data

Variant related genes	Relation type
MPZ	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158869	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16832793	1.00[AFR][1000 genomes]
rs16832810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4308999	0.90[ASN][1000 genomes]
rs4345822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4596919	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4986941	1.00[AMR][1000 genomes]
rs61734585	0.80[ASN][1000 genomes]
rs7413615	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 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	chr1:161283200-161285200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:161283400-161284800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:161283400-161284800	Active TSS	Brain Substantia Nigra	brain
4	chr1:161283400-161284800	Active TSS	Fetal Lung	lung
5	chr1:161283400-161285000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:161283400-161285000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:161283400-161285000	Active TSS	Colonic Mucosa	Colon
8	chr1:161283400-161285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:161283400-161285200	Active TSS	Right Atrium	heart
10	chr1:161283400-161285200	Active TSS	A549	lung
11	chr1:161283400-161285200	Active TSS	NHDF-Ad	bronchial
12	chr1:161283400-161285400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:161283600-161284800	Active TSS	Aorta	Aorta
14	chr1:161283600-161284800	Active TSS	Spleen	Spleen
15	chr1:161283600-161285000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:161283600-161285000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:161283600-161285000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:161283600-161285000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:161283600-161285000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:161283600-161285000	Active TSS	Fetal Intestine Large	intestine
21	chr1:161283600-161285000	Active TSS	Gastric	stomach
22	chr1:161283600-161285000	Active TSS	Ovary	ovary
23	chr1:161283600-161285200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:161283600-161285200	Active TSS	Fetal Kidney	kidney
25	chr1:161283600-161285200	Active TSS	Right Ventricle	heart
26	chr1:161283600-161285400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:161283600-161285400	Active TSS	Psoas Muscle	Psoas
28	chr1:161283800-161284800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:161283800-161284800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:161283800-161284800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:161283800-161284800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:161283800-161284800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:161283800-161284800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:161283800-161284800	Active TSS	Brain Angular Gyrus	brain
35	chr1:161283800-161284800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:161283800-161284800	Active TSS	Esophagus	oesophagus
37	chr1:161283800-161284800	Active TSS	Fetal Heart	heart
38	chr1:161283800-161284800	Active TSS	Lung	lung
39	chr1:161283800-161284800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:161283800-161284800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr1:161283800-161284800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:161283800-161284800	Active TSS	Small Intestine	intestine
43	chr1:161283800-161285000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:161283800-161285000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:161283800-161285000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:161283800-161285000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:161283800-161285000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:161283800-161285000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:161283800-161285000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:161283800-161285000	Active TSS	Stomach Mucosa	stomach

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