Variant report

Variant	rs10929729
Chromosome Location	chr2:11412007-11412008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11411018..11413119-chr2:11416854..11418915,2	K562	blood:
2	chr2:11410844..11413119-chr2:11416854..11418715,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10169455	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10175719	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10183296	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10192593	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10192994	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10194620	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11681822	0.82[AFR][1000 genomes]
rs12477052	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12692435	0.83[AFR][1000 genomes]
rs12994807	0.87[AFR][1000 genomes]
rs13002722	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13014721	0.83[AFR][1000 genomes]
rs2122384	0.87[AFR][1000 genomes]
rs2357995	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4353615	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4668720	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4669701	0.82[AFR][1000 genomes]
rs4669706	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6713382	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6730673	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6732258	0.85[AMR][1000 genomes]
rs6736240	0.89[AFR][1000 genomes]
rs6753875	0.84[AFR][1000 genomes]
rs6755337	0.82[AFR][1000 genomes]
rs7355446	0.89[AFR][1000 genomes]
rs7355489	0.82[AFR][1000 genomes]
rs7558664	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7563468	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7563928	0.89[AFR][1000 genomes]
rs7568064	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7575837	0.81[AFR][1000 genomes]
rs7593966	0.82[AFR][1000 genomes]

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	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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10929729	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs10929729	PQLC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
3	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
4	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:11387800-11417400	Weak transcription	Placenta	Placenta
12	chr2:11389800-11423800	Weak transcription	Colonic Mucosa	Colon
13	chr2:11391400-11412600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:11391400-11423800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:11391400-11423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:11391400-11423800	Weak transcription	Ovary	ovary
17	chr2:11391600-11414600	Weak transcription	HUVEC	blood vessel
18	chr2:11391600-11418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:11391600-11424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:11391600-11424000	Weak transcription	NHEK	skin
21	chr2:11392400-11423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:11394600-11417600	Weak transcription	Fetal Lung	lung
23	chr2:11394800-11420400	Weak transcription	Small Intestine	intestine
24	chr2:11394800-11423800	Weak transcription	Fetal Kidney	kidney
25	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
26	chr2:11395400-11417400	Weak transcription	Brain Germinal Matrix	brain
27	chr2:11396400-11413200	Strong transcription	HepG2	liver
28	chr2:11396600-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:11397600-11412600	Weak transcription	Left Ventricle	heart
30	chr2:11397600-11412600	Weak transcription	Lung	lung
31	chr2:11397600-11414800	Weak transcription	GM12878-XiMat	blood
32	chr2:11397600-11417400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:11397600-11423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11397800-11417600	Weak transcription	Liver	Liver
35	chr2:11397800-11417800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:11403600-11413600	Weak transcription	K562	blood
37	chr2:11404400-11423800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:11404400-11423800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:11404600-11423800	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:11404800-11423800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:11404800-11423800	Weak transcription	Fetal Heart	heart
42	chr2:11406200-11423800	Weak transcription	Fetal Brain Female	brain
43	chr2:11408200-11412800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:11408600-11418000	Weak transcription	Hela-S3	cervix
45	chr2:11409000-11417400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:11409000-11424000	Weak transcription	Fetal Brain Male	brain
47	chr2:11409400-11423800	Weak transcription	NH-A	brain
48	chr2:11409600-11413400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:11409800-11423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:11409800-11424200	Weak transcription	HMEC	breast

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