Variant report

Variant	rs200800971
Chromosome Location	chr16:81830887-81830888
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	RELA	chr16:81830455-81831452	GM18505	blood:	n/a	n/a
2	NFATC1	chr16:81830203-81831577	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81830187-81832981	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:81830183-81832892	GM12892	blood:	n/a	n/a
5	POLR2A	chr16:81829513-81832989	GM12878	blood:	n/a	n/a
6	MEF2A	chr16:81830719-81831494	GM12878	blood:	n/a	chr16:81830743-81830764
7	POLR2A	chr16:81830326-81832943	GM12891	blood:	n/a	n/a
8	ELF1	chr16:81830828-81831495	GM12878	blood:	n/a	chr16:81831264-81831275 chr16:81831263-81831276 chr16:81831265-81831274 chr16:81831264-81831275 chr16:81831225-81831238
9	PML	chr16:81829657-81832897	GM12878	blood:	n/a	chr16:81832500-81832508 chr16:81829827-81829835
10	FOXM1	chr16:81830439-81832937	GM12878	blood:	n/a	n/a
11	IRF1	chr16:81830854-81830974	K562	blood:	n/a	n/a
12	RUNX3	chr16:81830280-81832883	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
13	RUNX3	chr16:81830204-81833044	GM12878	blood:	n/a	chr16:81830603-81830612 chr16:81830603-81830612
14	NFATC1	chr16:81830348-81831582	GM12878	blood:	n/a	n/a
15	BATF	chr16:81830453-81830895	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:81830253-81831510	GM12892	blood:	n/a	n/a
17	FOXM1	chr16:81830864-81831701	GM12878	blood:	n/a	n/a
18	WRNIP1	chr16:81830457-81831365	GM12878	blood:	n/a	n/a
19	ATF2	chr16:81830527-81832960	GM12878	blood:	n/a	n/a
20	FOS	chr16:81830729-81830929	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT5A	chr16:81830383-81831531	GM12878	blood:	n/a	chr16:81830767-81830775
22	MXI1	chr16:81830467-81831542	GM12878	blood:	n/a	n/a
23	STAT3	chr16:81830599-81830956	MCF10A-Er-Src	breast:	n/a	chr16:81830765-81830776 chr16:81830767-81830775
24	RELA	chr16:81830533-81831508	GM18951	blood:	n/a	n/a
25	IKZF1	chr16:81830308-81832911	GM12878	blood:	n/a	chr16:81832253-81832261
26	BCLAF1	chr16:81830883-81831486	GM12878	blood:	n/a	n/a
27	RELA	chr16:81830432-81831432	GM15510	blood:	n/a	n/a
28	NFIC	chr16:81830829-81833086	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:81829638-81832949	GM18505	blood:	n/a	n/a
30	ZNF384	chr16:81830802-81831581	GM12878	blood:	n/a	n/a
31	NFIC	chr16:81829521-81833109	GM12878	blood:	n/a	n/a
32	STAT3	chr16:81830582-81830927	MCF10A-Er-Src	breast:	n/a	chr16:81830765-81830776 chr16:81830767-81830775
33	ATF2	chr16:81830857-81831544	GM12878	blood:	n/a	n/a
34	STAT3	chr16:81830615-81830956	MCF10A-Er-Src	breast:	n/a	chr16:81830765-81830776 chr16:81830767-81830775
35	FOS	chr16:81830684-81830911	MCF10A-Er-Src	breast:	n/a	n/a
36	RELA	chr16:81830455-81831510	GM19099	blood:	n/a	n/a
37	MTA3	chr16:81829389-81833165	GM12878	blood:	n/a	n/a
38	RELA	chr16:81830480-81831451	GM12878	blood:	n/a	n/a
39	RELA	chr16:81830548-81831473	GM10847	blood:	n/a	n/a
40	STAT3	chr16:81830649-81830928	MCF10A-Er-Src	breast:	n/a	chr16:81830765-81830776 chr16:81830767-81830775
41	RELA	chr16:81830410-81832885	GM12891	blood:	n/a	n/a
42	MTA3	chr16:81830262-81831581	GM12878	blood:	n/a	n/a
43	POLR2A	chr16:81830437-81832974	GM12878	blood:	n/a	n/a
44	BCLAF1	chr16:81830359-81831597	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: 3 )
Associated
traits (count: 0)

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:39 , 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	chr16:81829400-81831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:81829400-81832200	Enhancers	Fetal Thymus	thymus
15	chr16:81829400-81835200	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:81829600-81831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:81829600-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:81829600-81832800	Enhancers	Placenta	Placenta
19	chr16:81829800-81831200	Enhancers	NHEK	skin
20	chr16:81829800-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:81829800-81831400	Enhancers	HMEC	breast
22	chr16:81829800-81833200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr16:81830000-81831000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:81830000-81831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:81830000-81831800	Weak transcription	Lung	lung
26	chr16:81830000-81832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:81830200-81831200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:81830200-81831800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:81830200-81834200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:81830400-81831600	Weak transcription	Spleen	Spleen
31	chr16:81830400-81831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:81830600-81831800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:81830600-81832000	Enhancers	Thymus	Thymus
34	chr16:81830800-81831800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:81830800-81831800	Weak transcription	Esophagus	oesophagus
36	chr16:81830800-81832000	Weak transcription	Right Atrium	heart
37	chr16:81830800-81832200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:81830800-81832800	Flanking Active TSS	GM12878-XiMat	blood
39	chr16:81830800-81842400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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