Variant report

Variant	rs12448130
Chromosome Location	chr16:81953081-81953082
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	POLR2A	chr16:81952887-81954712	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81952959-81953917	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:81952912-81953945	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:81952709-81953190	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:81952596-81953956	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81945729..81948450-chr16:81950678..81953539,3	K562	blood:
2	chr16:81951437..81954317-chr16:81955630..81957451,2	K562	blood:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2955158	1.00[YRI][hapmap]
rs8053021	0.81[AFR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
2	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr16:81924400-81961600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
6	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:81928000-81953200	Weak transcription	Fetal Thymus	thymus
8	chr16:81930800-81953400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:81934600-81961200	Weak transcription	Colonic Mucosa	Colon
11	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
12	chr16:81936000-81982000	Weak transcription	Gastric	stomach
13	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:81937200-81955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:81941600-81966000	Weak transcription	Placenta	Placenta
17	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:81946600-81958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
21	chr16:81947200-81955200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:81948000-81953600	Weak transcription	Fetal Stomach	stomach
23	chr16:81948000-81958200	Weak transcription	Fetal Intestine Small	intestine
24	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
25	chr16:81951200-81962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:81951400-81971400	Weak transcription	Left Ventricle	heart
27	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:81952400-81958800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:81952600-81955400	Weak transcription	Colon Smooth Muscle	Colon
31	chr16:81952600-81958400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr16:81952600-81970600	Strong transcription	Spleen	Spleen
33	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
34	chr16:81952800-81958800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr16:81952800-81984600	Strong transcription	Liver	Liver
37	chr16:81953000-81953200	ZNF genes & repeats	Lung	lung
38	chr16:81953000-81953800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:81953000-81954200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:81953000-81954800	Strong transcription	Adipose Nuclei	Adipose
41	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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