Variant report

Variant	rs55963712
Chromosome Location	chr16:70332593-70332594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:70332373-70334162	H1-neurons	neurons:	n/a	chr16:70333108-70333121
2	POLR2A	chr16:70332414-70333743	HepG2	liver:	n/a	n/a
3	MYBL2	chr16:70332491-70333886	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70332499-70333758	H1-hESC	embryonic stem cell:	n/a	n/a
5	ARID3A	chr16:70332592-70333723	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70332474-70333409	HCT-116	colon:	n/a	n/a
7	PML	chr16:70332524-70333950	GM12878	blood:	n/a	n/a
8	CEBPB	chr16:70332564-70332823	HepG2	liver:	n/a	n/a
9	HEY1	chr16:70332424-70333758	HepG2	liver:	n/a	n/a
10	NFIC	chr16:70332483-70333546	HepG2	liver:	n/a	chr16:70332716-70332733 chr16:70332717-70332733
11	MAX	chr16:70332544-70333748	A549	lung:	n/a	n/a
12	POLR2A	chr16:70332593-70333707	HepG2	liver:	n/a	n/a
13	CREB1	chr16:70332453-70333759	HepG2	liver:	n/a	n/a
14	MBD4	chr16:70332443-70333870	HepG2	liver:	n/a	n/a
15	MXI1	chr16:70332400-70334056	SK-N-SH	brain:	n/a	n/a
16	FOXM1	chr16:70332579-70333358	GM12878	blood:	n/a	n/a
17	CREB1	chr16:70332419-70333987	HepG2	liver:	n/a	n/a
18	MAX	chr16:70332450-70333884	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:70332543-70333603	HepG2	liver:	n/a	n/a
20	HCFC1	chr16:70332447-70333835	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
2	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
3	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
4	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
5	chr16:70326803..70329805-chr16:70331309..70336594,5	K562	blood:
6	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:

No data

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000260537	TF binding region
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000223496	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs11537667	0.81[AMR][1000 genomes]
rs11859191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859257	0.81[AMR][1000 genomes]
rs11859730	0.91[AMR][1000 genomes]
rs11859827	0.81[AMR][1000 genomes]
rs11859870	1.00[EUR][1000 genomes]
rs11860922	0.81[AMR][1000 genomes]
rs11861097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861651	0.84[AMR][1000 genomes]
rs11862053	0.81[AMR][1000 genomes]
rs11862150	0.81[AMR][1000 genomes]
rs11862188	0.81[AMR][1000 genomes]
rs11863128	0.81[AFR][1000 genomes]
rs11866378	0.81[AMR][1000 genomes]
rs11866451	0.81[AMR][1000 genomes]
rs16970133	1.00[EUR][1000 genomes]
rs16970149	1.00[EUR][1000 genomes]
rs16970151	1.00[EUR][1000 genomes]
rs16970152	1.00[EUR][1000 genomes]
rs16970153	1.00[EUR][1000 genomes]
rs16970159	1.00[EUR][1000 genomes]
rs16970165	1.00[EUR][1000 genomes]
rs16970302	0.84[AMR][1000 genomes]
rs16970361	0.81[AMR][1000 genomes]
rs28438754	0.84[AMR][1000 genomes]
rs2869156	0.81[AMR][1000 genomes]
rs3972075	0.91[AMR][1000 genomes]
rs3972077	0.84[AMR][1000 genomes]
rs55657328	0.81[AMR][1000 genomes]
rs55805938	0.81[AMR][1000 genomes]
rs55819743	0.81[AMR][1000 genomes]
rs55965002	0.81[AMR][1000 genomes]
rs55971559	0.81[AMR][1000 genomes]
rs56051513	0.91[AMR][1000 genomes]
rs56077083	0.84[AMR][1000 genomes]
rs56090000	0.81[AMR][1000 genomes]
rs56096542	1.00[EUR][1000 genomes]
rs56348821	1.00[EUR][1000 genomes]
rs57150196	1.00[EUR][1000 genomes]
rs57320283	0.81[AMR][1000 genomes]
rs57492770	1.00[EUR][1000 genomes]
rs57623576	0.81[AMR][1000 genomes]
rs58131227	0.81[AMR][1000 genomes]
rs58319566	0.91[AMR][1000 genomes]
rs58434182	1.00[EUR][1000 genomes]
rs58467558	0.84[AMR][1000 genomes]
rs59116576	1.00[EUR][1000 genomes]
rs59260159	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59272950	0.84[AMR][1000 genomes]
rs59384897	0.81[AMR][1000 genomes]
rs59552467	1.00[EUR][1000 genomes]
rs59612351	0.81[AMR][1000 genomes]
rs59769732	0.81[AMR][1000 genomes]
rs59849898	0.81[AMR][1000 genomes]
rs60011151	1.00[EUR][1000 genomes]
rs60103946	0.81[AMR][1000 genomes]
rs60387488	1.00[EUR][1000 genomes]
rs60426209	0.81[AMR][1000 genomes]
rs60463946	0.81[AMR][1000 genomes]
rs60841206	0.81[AMR][1000 genomes]
rs61172065	0.81[AMR][1000 genomes]
rs61284127	1.00[EUR][1000 genomes]
rs61369696	1.00[EUR][1000 genomes]
rs61391917	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61594809	0.81[AMR][1000 genomes]
rs6499306	1.00[EUR][1000 genomes]
rs6499307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184248	1.00[EUR][1000 genomes]
rs7184643	1.00[EUR][1000 genomes]
rs7184759	1.00[EUR][1000 genomes]
rs7185665	0.81[AMR][1000 genomes]
rs7186024	0.81[AMR][1000 genomes]
rs7189535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	0.81[AMR][1000 genomes]
rs7191210	0.91[AMR][1000 genomes]
rs7192000	0.84[AMR][1000 genomes]
rs7195104	1.00[EUR][1000 genomes]
rs7198871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198923	1.00[EUR][1000 genomes]
rs7203548	1.00[EUR][1000 genomes]
rs7203761	1.00[EUR][1000 genomes]
rs7205871	1.00[EUR][1000 genomes]
rs7205918	0.84[AMR][1000 genomes]
rs74024172	0.91[AMR][1000 genomes]
rs74024176	0.81[AMR][1000 genomes]
rs74024177	0.81[AMR][1000 genomes]
rs74024180	0.81[AMR][1000 genomes]
rs74024182	0.81[AMR][1000 genomes]
rs74024183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024184	0.81[AMR][1000 genomes]
rs74024185	0.81[AMR][1000 genomes]
rs74024186	0.81[AMR][1000 genomes]
rs74024187	0.81[AMR][1000 genomes]
rs74024188	0.84[AMR][1000 genomes]
rs74024191	0.81[AMR][1000 genomes]
rs74024193	0.81[AMR][1000 genomes]
rs74024196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026026	1.00[EUR][1000 genomes]
rs8044699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	0.81[AMR][1000 genomes]
rs8045769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046662	0.81[AMR][1000 genomes]
rs8046786	0.84[AMR][1000 genomes]
rs8049361	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050252	1.00[EUR][1000 genomes]
rs8053883	1.00[EUR][1000 genomes]
rs8055675	1.00[AMR][1000 genomes]
rs8056048	0.84[AMR][1000 genomes]
rs8056196	1.00[AMR][1000 genomes]
rs8063749	0.81[AMR][1000 genomes]
rs9673623	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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70324000-70332600	Weak transcription	NHEK	skin
2	chr16:70324000-70332800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70324200-70332600	Weak transcription	Placenta	Placenta
4	chr16:70329000-70332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70332000-70332800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:70332200-70332600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:70332400-70332600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:70332400-70332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:70332400-70332600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:70332400-70332600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:70332400-70332600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:70332400-70332600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr16:70332400-70332600	Enhancers	Primary B cells from peripheral blood	blood
14	chr16:70332400-70332600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:70332400-70332600	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:70332400-70332600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr16:70332400-70332600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr16:70332400-70332600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr16:70332400-70332600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr16:70332400-70332600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr16:70332400-70332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr16:70332400-70332600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:70332400-70332600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70332400-70332600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr16:70332400-70332600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:70332400-70332600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:70332400-70332600	Enhancers	Liver	Liver
28	chr16:70332400-70332600	Enhancers	Brain Anterior Caudate	brain
29	chr16:70332400-70332600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr16:70332400-70332600	Enhancers	Brain Hippocampus Middle	brain
31	chr16:70332400-70332600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:70332400-70332600	Enhancers	Brain Substantia Nigra	brain
33	chr16:70332400-70332600	Enhancers	Colon Smooth Muscle	Colon
34	chr16:70332400-70332600	Enhancers	Duodenum Mucosa	Duodenum
35	chr16:70332400-70332600	Enhancers	Fetal Brain Male	brain
36	chr16:70332400-70332600	Enhancers	Fetal Heart	heart
37	chr16:70332400-70332600	Enhancers	Fetal Intestine Large	intestine
38	chr16:70332400-70332600	Enhancers	Fetal Intestine Small	intestine
39	chr16:70332400-70332600	Enhancers	Fetal Lung	lung
40	chr16:70332400-70332600	Enhancers	Fetal Muscle Trunk	muscle
41	chr16:70332400-70332600	Enhancers	Fetal Stomach	stomach
42	chr16:70332400-70332600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr16:70332400-70332600	Enhancers	Right Ventricle	heart
44	chr16:70332400-70332600	Enhancers	Stomach Mucosa	stomach
45	chr16:70332400-70332600	Enhancers	GM12878-XiMat	blood
46	chr16:70332400-70332600	Enhancers	Hela-S3	cervix
47	chr16:70332400-70332600	Enhancers	HMEC	breast
48	chr16:70332400-70332600	Enhancers	HSMMtube	muscle
49	chr16:70332400-70332600	Enhancers	HUVEC	blood vessel
50	chr16:70332400-70332600	Enhancers	Monocytes-CD14+_RO01746	blood

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