Variant report

Variant	rs8050578
Chromosome Location	chr16:30799404-30799405
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:30799324-30799564	HepG2	liver:	n/a	chr16:30799495-30799504
2	KAP1	chr16:30798418-30799522	HEK293	kidney:	n/a	n/a
3	HEY1	chr16:30798202-30799769	HepG2	liver:	n/a	chr16:30798228-30798243
4	MXI1	chr16:30797037-30799444	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr16:30782383-30800309	HepG2	liver:	n/a	n/a
6	HNF4G	chr16:30799287-30799653	HepG2	liver:	n/a	chr16:30799532-30799544
7	POLR2A	chr16:30799319-30799553	HepG2	liver:	n/a	n/a
8	NFIC	chr16:30798237-30799613	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30799211-30799646	HepG2	liver:	n/a	n/a
10	MYBL2	chr16:30798283-30799658	HepG2	liver:	n/a	n/a
11	EP300	chr16:30799245-30799433	HepG2	liver:	n/a	n/a
12	HEY1	chr16:30799297-30799592	HepG2	liver:	n/a	n/a
13	MYBL2	chr16:30798209-30799678	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:30798213-30799710	HepG2	liver:	n/a	n/a
15	REST	chr16:30797422-30799524	H1-neurons	neurons:	n/a	chr16:30799495-30799504
16	HNF4G	chr16:30799144-30799786	HepG2	liver:	n/a	chr16:30799532-30799544
17	POLR2A	chr16:30799157-30799593	HepG2	liver:	n/a	n/a
18	MAZ	chr16:30796865-30799576	IMR90	lung:	n/a	chr16:30798261-30798271 chr16:30799514-30799524 chr16:30797910-30797920
19	REST	chr16:30799247-30799632	HepG2	liver:	n/a	chr16:30799495-30799504
20	TBP	chr16:30798334-30799547	HepG2	liver:	n/a	n/a
21	HNF4A	chr16:30799275-30799626	HepG2	liver:	n/a	chr16:30799530-30799545 chr16:30799532-30799544
22	ARID3A	chr16:30799262-30799455	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:30798327-30799484	HepG2	liver:	n/a	n/a
24	SMC3	chr16:30799217-30799462	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30797838..30800327-chr16:30905685..30908528,2	K562	blood:
2	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
3	chr16:30796419..30799477-chr16:30959308..30961978,4	MCF-7	breast:
4	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
5	chr16:30797763..30800233-chr16:31019158..31021994,2	K562	blood:
6	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:
7	chr16:30075546..30077450-chr16:30796660..30799648,2	MCF-7	breast:
8	chr16:30797430..30800037-chr16:30885102..30887908,3	K562	blood:
9	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
10	chr16:30796561..30800264-chr16:30966265..30969481,3	MCF-7	breast:
11	chr16:30796927..30799573-chr16:30884313..30888213,5	MCF-7	breast:

Variant related genes	Relation type
ZNF629	TF binding region
ENSG00000262721	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000099381	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10782000	0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	0.93[YRI][hapmap]
rs11640414	0.87[AFR][1000 genomes]
rs11648654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550477	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972808	0.88[YRI][hapmap]
rs2972809	0.86[YRI][hapmap]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889504	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889508	0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889509	0.93[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	0.93[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048656	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941300	0.93[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30798400-30799600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr16:30798400-30799600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:30798400-30799600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr16:30798800-30799600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:30798800-30800000	Enhancers	Spleen	Spleen
6	chr16:30799000-30799600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr16:30799000-30799600	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr16:30799000-30799600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr16:30799000-30799600	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr16:30799000-30799600	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr16:30799000-30799600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr16:30799000-30799800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:30799200-30799600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr16:30799200-30799600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr16:30799200-30799600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr16:30799200-30799600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:30799200-30799600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr16:30799200-30799600	Enhancers	Fetal Muscle Leg	muscle
19	chr16:30799200-30799600	Enhancers	Left Ventricle	heart
20	chr16:30799200-30799600	Enhancers	Ovary	ovary
21	chr16:30799200-30799600	Enhancers	Pancreas	Pancrea
22	chr16:30799200-30799600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr16:30799200-30799600	Enhancers	Stomach Mucosa	stomach
24	chr16:30799200-30799800	Enhancers	Primary B cells from cord blood	blood
25	chr16:30799200-30800000	Enhancers	Fetal Stomach	stomach
26	chr16:30799200-30800200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:30799200-30800400	Enhancers	Fetal Intestine Large	intestine
28	chr16:30799200-30802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:30799400-30799600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr16:30799400-30799600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:30799400-30799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:30799400-30799600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:30799400-30799600	Active TSS	Primary hematopoietic stem cells	blood
34	chr16:30799400-30799600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:30799400-30799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:30799400-30799600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr16:30799400-30799600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr16:30799400-30799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:30799400-30799600	Enhancers	Adipose Nuclei	Adipose
40	chr16:30799400-30799600	Enhancers	Liver	Liver
41	chr16:30799400-30799600	Enhancers	Brain Angular Gyrus	brain
42	chr16:30799400-30799600	Enhancers	Brain Germinal Matrix	brain
43	chr16:30799400-30799600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr16:30799400-30799600	Enhancers	Brain Substantia Nigra	brain
45	chr16:30799400-30799600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr16:30799400-30799600	Enhancers	Fetal Brain Female	brain
47	chr16:30799400-30799600	Enhancers	Fetal Kidney	kidney
48	chr16:30799400-30799600	Enhancers	Fetal Lung	lung
49	chr16:30799400-30799600	Bivalent Enhancer	Fetal Thymus	thymus
50	chr16:30799400-30799600	Enhancers	Right Ventricle	heart

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