Variant report

Variant	rs73214266
Chromosome Location	chr2:20151871-20151872
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	EP300	chr2:20151704-20152463	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
WDR35	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1056233	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1115275	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11680554	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11681705	0.81[AMR][1000 genomes]
rs11683973	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11688680	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11694821	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12986437	0.81[AMR][1000 genomes]
rs12988913	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12990087	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12996974	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13001254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13005512	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13006748	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13011870	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13035048	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1370585	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16987220	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16987257	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17695872	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1921731	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992167	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2028208	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28452699	0.81[AMR][1000 genomes]
rs34400777	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34425205	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34459327	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34741640	0.83[AMR][1000 genomes]
rs35307726	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35425971	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35973216	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4294960	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66496755	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6706311	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6720011	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67653248	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67724270	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67915887	0.81[AMR][1000 genomes]
rs721932	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs721933	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs957614	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv527453	chr2:20109061-20160209	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1798392	chr2:20131079-20173255	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
2	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:20127400-20167800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
6	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
7	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:20130400-20164600	Weak transcription	Lung	lung
10	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:20130600-20161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:20133600-20164800	Weak transcription	Gastric	stomach
15	chr2:20133600-20184800	Weak transcription	Psoas Muscle	Psoas
16	chr2:20133800-20173200	Weak transcription	NHEK	skin
17	chr2:20133800-20176800	Weak transcription	HMEC	breast
18	chr2:20134200-20168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:20136400-20177000	Weak transcription	GM12878-XiMat	blood
20	chr2:20136400-20177200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:20136600-20171200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:20136600-20177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20136800-20171400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:20137600-20161000	Weak transcription	HSMMtube	muscle
27	chr2:20137600-20165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:20137800-20152000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:20137800-20161200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:20137800-20165000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:20138000-20165000	Weak transcription	Fetal Brain Female	brain
32	chr2:20138000-20177000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:20138200-20152000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:20138200-20164200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:20138200-20165000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:20138200-20165000	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:20138200-20171400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:20138200-20188800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:20138400-20164400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:20138400-20167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:20138600-20152000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:20138600-20165000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:20138600-20165000	Weak transcription	Left Ventricle	heart
44	chr2:20138600-20165400	Weak transcription	Osteobl	bone
45	chr2:20138600-20184800	Weak transcription	Aorta	Aorta
46	chr2:20138800-20164800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:20138800-20165000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:20138800-20165000	Weak transcription	Fetal Thymus	thymus
49	chr2:20141600-20163800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:20144600-20173200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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