Variant report

Variant	rs72834730
Chromosome Location	chr16:81817492-81817493
allele	A/G
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	CTCF	chr16:81817460-81817610	GM12864	blood:	n/a	n/a
2	POLR2A	chr16:81816374-81818124	GM12878	blood:	n/a	n/a
3	EBF1	chr16:81817017-81818156	GM12878	blood:	n/a	chr16:81817208-81817219
4	POLR2A	chr16:81817232-81818439	GM12878	blood:	n/a	n/a
5	CTCF	chr16:81817420-81817570	GM12864	blood:	n/a	n/a
6	CTCF	chr16:81817480-81817630	GM12873	blood:	n/a	n/a
7	POLR2A	chr16:81817345-81818091	Raji	blood:	n/a	n/a
8	POLR2A	chr16:81817054-81818140	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81816216..81818733-chr16:81825136..81827386,3	MCF-7	breast:
2	chr16:81797999..81801347-chr16:81816788..81819306,3	K562	blood:
3	chr16:81815474..81817906-chr16:81818108..81820876,3	K562	blood:
4	chr16:81816161..81818114-chr16:81818804..81820876,2	K562	blood:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4888175	0.85[ASN][1000 genomes]
rs4889381	0.85[ASN][1000 genomes]
rs62046428	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62046429	0.84[AMR][1000 genomes]
rs62047672	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72834726	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72834729	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81813800-81817800	Weak transcription	Right Atrium	heart
2	chr16:81814000-81817600	Weak transcription	Gastric	stomach
3	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:81814600-81818000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr16:81814800-81817800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
10	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
12	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
13	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr16:81816400-81818200	Enhancers	Fetal Intestine Large	intestine
15	chr16:81816400-81818200	Genic enhancers	Spleen	Spleen
16	chr16:81816400-81818800	Enhancers	Fetal Kidney	kidney
17	chr16:81816400-81819000	Enhancers	Small Intestine	intestine
18	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
19	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:81816800-81817800	Weak transcription	Lung	lung
21	chr16:81816800-81818000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:81816800-81818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:81816800-81822200	Weak transcription	Colonic Mucosa	Colon
24	chr16:81817000-81818400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr16:81817000-81818600	Enhancers	Fetal Intestine Small	intestine
26	chr16:81817200-81818200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr16:81817200-81818600	Enhancers	Liver	Liver
28	chr16:81817200-81818600	Enhancers	Colon Smooth Muscle	Colon
29	chr16:81817200-81818600	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr16:81817200-81819000	Enhancers	Left Ventricle	heart
31	chr16:81817400-81817600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr16:81817400-81817600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:81817400-81817800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:81817400-81817800	Enhancers	Primary B cells from peripheral blood	blood
35	chr16:81817400-81817800	Flanking Active TSS	GM12878-XiMat	blood
36	chr16:81817400-81818200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr16:81817400-81822200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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