Variant report

Variant	rs4669699
Chromosome Location	chr2:11356966-11356967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11356854..11358667-chr2:11369917..11371992,2	K562	blood:
2	chr2:11297321..11299192-chr2:11354600..11357317,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10178332	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10183296	0.84[AMR][1000 genomes]
rs10192593	0.81[AMR][1000 genomes]
rs10192994	0.84[AMR][1000 genomes]
rs10194620	0.84[AMR][1000 genomes]
rs10206334	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10210600	0.81[EUR][1000 genomes]
rs10454126	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10754957	0.88[EUR][1000 genomes]
rs11694729	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11695377	0.83[AFR][1000 genomes]
rs12692434	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1515224	0.92[EUR][1000 genomes]
rs1562748	0.81[EUR][1000 genomes]
rs1562749	0.91[EUR][1000 genomes]
rs2044758	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2084577	0.81[EUR][1000 genomes]
rs2100228	0.88[EUR][1000 genomes]
rs2167126	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2357996	0.91[EUR][1000 genomes]
rs3911110	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4303693	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4669701	0.84[AMR][1000 genomes]
rs4669706	0.81[AMR][1000 genomes]
rs4669710	0.81[EUR][1000 genomes]
rs4669711	0.81[EUR][1000 genomes]
rs62118012	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6432183	0.91[EUR][1000 genomes]
rs6432186	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6706126	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710031	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6713273	0.83[EUR][1000 genomes]
rs6713382	0.84[AMR][1000 genomes]
rs6721445	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6730673	0.81[AMR][1000 genomes]
rs6733312	0.81[EUR][1000 genomes]
rs6735090	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6749456	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6755196	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6760802	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7568064	0.81[AMR][1000 genomes]
rs7573458	0.83[EUR][1000 genomes]
rs7593091	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9287728	0.91[EUR][1000 genomes]
rs965665	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9808228	0.91[EUR][1000 genomes]
rs9967898	0.86[EUR][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	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4669699	PQLC3	Cis_1M	lymphoblastoid	RTeQTL
rs4669699	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
6	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
9	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11320800-11377000	Strong transcription	HepG2	liver
11	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:11329200-11364400	Strong transcription	Liver	Liver
13	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11332400-11357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:11334400-11363600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:11337000-11367400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:11337600-11362600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:11338400-11367400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:11338600-11373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:11339800-11359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:11339800-11360000	Weak transcription	Spleen	Spleen
23	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
24	chr2:11340600-11369400	Weak transcription	Colonic Mucosa	Colon
25	chr2:11340800-11361200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11341400-11358400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:11344400-11368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:11345000-11361600	Strong transcription	Fetal Intestine Large	intestine
30	chr2:11345200-11364400	Strong transcription	Adipose Nuclei	Adipose
31	chr2:11345400-11359600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:11346400-11364400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11346400-11364400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:11346600-11358200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:11346600-11358800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:11346600-11361400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:11346800-11362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:11346800-11362800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:11346800-11364600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:11346800-11366400	Strong transcription	HSMM	muscle
41	chr2:11347200-11361600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:11349000-11357000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:11349000-11358200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:11349000-11361600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:11349000-11362000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:11349400-11362200	Strong transcription	Placenta	Placenta
47	chr2:11349800-11357000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:11350200-11361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:11351200-11361200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:11351200-11362200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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