Variant report

Variant	rs62043995
Chromosome Location	chr16:81918234-81918235
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	POLR2A	chr16:81917932-81918282	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81917975-81918295	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11542462	1.00[ASN][1000 genomes]
rs11859107	1.00[ASN][1000 genomes]
rs11859176	1.00[ASN][1000 genomes]
rs11860342	1.00[ASN][1000 genomes]
rs11860917	1.00[ASN][1000 genomes]
rs11863870	1.00[ASN][1000 genomes]
rs11864701	1.00[ASN][1000 genomes]
rs13333348	1.00[ASN][1000 genomes]
rs13333716	1.00[ASN][1000 genomes]
rs28520093	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41305761	1.00[ASN][1000 genomes]
rs41305765	1.00[ASN][1000 genomes]
rs55678733	1.00[ASN][1000 genomes]
rs55791328	1.00[ASN][1000 genomes]
rs55801253	1.00[ASN][1000 genomes]
rs56047457	1.00[ASN][1000 genomes]
rs56397554	1.00[ASN][1000 genomes]
rs58227801	1.00[ASN][1000 genomes]
rs58737360	1.00[ASN][1000 genomes]
rs59773113	1.00[ASN][1000 genomes]
rs62043999	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62044000	1.00[ASN][1000 genomes]
rs62044001	1.00[ASN][1000 genomes]
rs62044874	1.00[ASN][1000 genomes]
rs62044875	1.00[ASN][1000 genomes]
rs62044876	1.00[ASN][1000 genomes]
rs62044878	1.00[ASN][1000 genomes]
rs62044879	1.00[ASN][1000 genomes]
rs62046676	1.00[ASN][1000 genomes]
rs62046679	1.00[ASN][1000 genomes]
rs62046681	1.00[ASN][1000 genomes]
rs62046759	1.00[ASN][1000 genomes]
rs62047363	1.00[ASN][1000 genomes]
rs62047364	1.00[ASN][1000 genomes]
rs62047369	1.00[ASN][1000 genomes]
rs67157120	1.00[ASN][1000 genomes]
rs7201677	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062633	1.00[ASN][1000 genomes]
rs9674372	1.00[ASN][1000 genomes]
rs9928597	1.00[ASN][1000 genomes]
rs9930679	1.00[ASN][1000 genomes]
rs9936650	1.00[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	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
2	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
2	chr16:81900800-81925000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:81901000-81929200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:81901200-81925000	Weak transcription	Adipose Nuclei	Adipose
5	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
6	chr16:81905800-81943000	Weak transcription	Small Intestine	intestine
7	chr16:81907800-81925000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:81908000-81919400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:81908000-81924400	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:81908200-81925000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:81908200-81936800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:81908400-81919600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:81908400-81921200	Weak transcription	Liver	Liver
14	chr16:81908400-81923600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr16:81908400-81950000	Strong transcription	GM12878-XiMat	blood
16	chr16:81908400-81950200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:81909000-81918600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:81910000-81918800	Strong transcription	Spleen	Spleen
20	chr16:81910600-81922200	Weak transcription	Gastric	stomach
21	chr16:81911400-81936400	Weak transcription	Pancreas	Pancrea
22	chr16:81913000-81923600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:81913400-81923600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:81913400-81934000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81917200-81923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:81917400-81923800	Weak transcription	Fetal Intestine Large	intestine
27	chr16:81917600-81921600	Weak transcription	Fetal Intestine Small	intestine
28	chr16:81917600-81922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:81917600-81922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:81917600-81923800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:81917600-81925000	Weak transcription	Lung	lung
32	chr16:81918000-81924800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:81918200-81919400	Weak transcription	Primary B cells from cord blood	blood
34	chr16:81918200-81922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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