Variant report

Variant	rs4889385
Chromosome Location	chr16:81831781-81831782
allele	C/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	POU2F2	chr16:81831670-81832949	GM12891	blood:	n/a	n/a
2	BCL3	chr16:81831718-81832861	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81830187-81832981	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:81831604-81832829	GM12891	blood:	n/a	n/a
5	STAT5A	chr16:81831625-81833026	GM12878	blood:	n/a	chr16:81831926-81831938 chr16:81832121-81832132 chr16:81832328-81832339 chr16:81832119-81832126
6	POLR2A	chr16:81831743-81832804	GM19099	blood:	n/a	n/a
7	RELA	chr16:81831733-81832863	GM19099	blood:	n/a	n/a
8	POLR2A	chr16:81831551-81832905	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:81830183-81832892	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:81829513-81832989	GM12878	blood:	n/a	n/a
11	CTCF	chr16:81831740-81831890	K562	blood:	n/a	n/a
12	IRF4	chr16:81831646-81832824	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:81831739-81832798	Raji	blood:	n/a	n/a
14	POLR2A	chr16:81831628-81832914	GM12891	blood:	n/a	n/a
15	TCF12	chr16:81831752-81832918	GM12878	blood:	n/a	chr16:81832497-81832504
16	POLR2A	chr16:81830910-81833182	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:81830326-81832943	GM12891	blood:	n/a	n/a
18	NFATC1	chr16:81831640-81832871	GM12878	blood:	n/a	n/a
19	NFATC1	chr16:81831614-81832922	GM12878	blood:	n/a	n/a
20	PML	chr16:81829657-81832897	GM12878	blood:	n/a	chr16:81832500-81832508 chr16:81829827-81829835
21	FOXM1	chr16:81830439-81832937	GM12878	blood:	n/a	n/a
22	STAT5A	chr16:81831635-81832845	GM12878	blood:	n/a	chr16:81831926-81831938 chr16:81832121-81832132 chr16:81832328-81832339 chr16:81832119-81832126
23	SPI1	chr16:81831747-81832750	GM12878	blood:	n/a	n/a
24	YY1	chr16:81831643-81832692	GM12878	blood:	n/a	n/a
25	POU2F2	chr16:81831625-81832952	GM12878	blood:	n/a	n/a
26	BATF	chr16:81831590-81832792	GM12878	blood:	n/a	n/a
27	RUNX3	chr16:81830280-81832883	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
28	RUNX3	chr16:81830204-81833044	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
29	MTA3	chr16:81831633-81833082	GM12878	blood:	n/a	n/a
30	EBF1	chr16:81831639-81832988	GM12878	blood:	n/a	chr16:81832616-81832627 chr16:81832617-81832626 chr16:81832617-81832626 chr16:81832615-81832628 chr16:81832617-81832627
31	BCLAF1	chr16:81831584-81832821	GM12878	blood:	n/a	n/a
32	CTCF	chr16:81831780-81831930	GM12866	blood:	n/a	chr16:81831888-81831901
33	TCF3	chr16:81831685-81832838	GM12878	blood:	n/a	chr16:81831885-81831898
34	SP1	chr16:81831763-81832836	GM12878	blood:	n/a	chr16:81832408-81832422
35	TCF12	chr16:81831743-81832769	GM12878	blood:	n/a	chr16:81832497-81832504
36	ATF2	chr16:81830527-81832960	GM12878	blood:	n/a	n/a
37	ATF2	chr16:81831664-81832992	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:81831710-81832768	GM12878	blood:	n/a	n/a
39	POU2F2	chr16:81831750-81832807	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:81831756-81832258	GM12878	blood:	n/a	n/a
41	FOXM1	chr16:81831716-81833216	GM12878	blood:	n/a	n/a
42	CTCF	chr16:81831700-81831850	GM12869	blood:	n/a	n/a
43	RELA	chr16:81831744-81832924	GM10847	blood:	n/a	n/a
44	POLR2A	chr16:81831719-81832748	GM19193	blood:	n/a	n/a
45	CHD1	chr16:81831747-81833006	GM12878	blood:	n/a	n/a
46	IKZF1	chr16:81830308-81832911	GM12878	blood:	n/a	chr16:81832253-81832261
47	RCOR1	chr16:81831738-81832995	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:81831769-81832948	GM12892	blood:	n/a	n/a
49	POU2F2	chr16:81831621-81832854	GM12891	blood:	n/a	n/a
50	NFIC	chr16:81830829-81833086	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81830336..81831988-chr16:81835659..81838054,2	K562	blood:
2	chr16:81829889..81831836-chr16:81836554..81838108,2	K562	blood:
3	chr16:81829706..81831905-chr16:81903990..81906262,2	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12447670	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12918182	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28376278	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34332984	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4265800	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889384	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2761926	chr16:81830475-81835109	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
2	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:81825200-81832000	Weak transcription	Fetal Kidney	kidney
5	chr16:81826000-81831800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81827200-81831800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:81827800-81841800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:81828800-81831800	Genic enhancers	Primary B cells from cord blood	blood
9	chr16:81828800-81832800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:81828800-81833600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:81829200-81832200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:81829200-81842400	Weak transcription	Pancreas	Pancrea
13	chr16:81829400-81832200	Enhancers	Fetal Thymus	thymus
14	chr16:81829400-81835200	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:81829600-81832800	Enhancers	Placenta	Placenta
16	chr16:81829800-81833200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr16:81830000-81831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:81830000-81831800	Weak transcription	Lung	lung
19	chr16:81830000-81832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:81830200-81831800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr16:81830200-81834200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:81830400-81831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81830600-81831800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:81830600-81832000	Enhancers	Thymus	Thymus
25	chr16:81830800-81831800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:81830800-81831800	Weak transcription	Esophagus	oesophagus
27	chr16:81830800-81832000	Weak transcription	Right Atrium	heart
28	chr16:81830800-81832200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:81830800-81832800	Flanking Active TSS	GM12878-XiMat	blood
30	chr16:81830800-81842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:81831000-81832000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:81831000-81832600	Enhancers	Left Ventricle	heart
33	chr16:81831000-81834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:81831200-81832600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr16:81831400-81831800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr16:81831400-81831800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:81831400-81832400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:81831400-81832800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr16:81831600-81832600	Enhancers	Spleen	Spleen
40	chr16:81831600-81833000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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