Variant report

Variant	rs8055929
Chromosome Location	chr16:69500982-69500983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69494261..69496702-chr16:69498407..69501487,3	K562	blood:
2	chr16:69491057..69494672-chr16:69499045..69501643,3	K562	blood:
3	chr16:69495315..69497830-chr16:69499149..69500993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260108	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11075721	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs165970	0.81[AMR][1000 genomes]
rs246135	0.81[AMR][1000 genomes]
rs246145	0.89[GIH][hapmap]
rs246147	0.87[ASN][1000 genomes]
rs6499226	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728546	0.87[GIH][hapmap]

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	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8055929	LCAT	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69473400-69501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:69478400-69503200	Weak transcription	Spleen	Spleen
3	chr16:69479200-69501400	Weak transcription	Aorta	Aorta
4	chr16:69479400-69503600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:69479600-69517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:69479800-69505000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:69480600-69501200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:69481400-69503800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:69483000-69501400	Weak transcription	Psoas Muscle	Psoas
10	chr16:69483000-69503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:69483000-69505600	Weak transcription	Right Ventricle	heart
12	chr16:69483600-69503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:69484000-69508200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:69489800-69510800	Weak transcription	Right Atrium	heart
15	chr16:69494200-69510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:69496800-69501200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:69497000-69501600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:69497200-69502400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:69497200-69504000	Weak transcription	Esophagus	oesophagus
20	chr16:69497200-69504000	Weak transcription	Lung	lung
21	chr16:69497200-69510800	Weak transcription	Gastric	stomach
22	chr16:69497400-69502000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:69497600-69501400	Enhancers	Brain Angular Gyrus	brain
24	chr16:69497600-69502000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:69497800-69501400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:69497800-69501400	Enhancers	Brain Anterior Caudate	brain
27	chr16:69497800-69510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:69498000-69503000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:69498000-69507800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:69498000-69510600	Weak transcription	HSMMtube	muscle
31	chr16:69498200-69504000	Weak transcription	Fetal Stomach	stomach
32	chr16:69498400-69506000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:69498600-69501800	Enhancers	Liver	Liver
34	chr16:69498800-69505600	Enhancers	Primary hematopoietic stem cells	blood
35	chr16:69498800-69510400	Weak transcription	HSMM	muscle
36	chr16:69499000-69501200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr16:69499200-69501200	Weak transcription	Fetal Thymus	thymus
38	chr16:69499200-69501400	Enhancers	HUVEC	blood vessel
39	chr16:69499200-69503400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr16:69499200-69503600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:69499200-69504000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:69499200-69509600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:69499200-69515600	Weak transcription	Left Ventricle	heart
44	chr16:69499400-69501200	Weak transcription	Pancreas	Pancrea
45	chr16:69499400-69501400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:69499400-69503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:69499400-69503400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:69499400-69503800	Weak transcription	Small Intestine	intestine
49	chr16:69499400-69504000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:69499400-69507400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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