Variant report

Variant	rs11693223
Chromosome Location	chr2:128508511-128508512
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	chr2:128507392..128510233-chr2:128516119..128518493,3	K562	blood:
2	chr2:128508196..128511381-chr2:128515969..128518493,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11557685	0.85[AFR][1000 genomes]
rs12615078	1.00[JPT][hapmap]
rs17418125	0.85[AFR][1000 genomes]
rs17534053	0.85[AFR][1000 genomes]
rs17534123	0.85[AFR][1000 genomes]
rs17599575	0.82[AFR][1000 genomes]
rs17600177	0.85[AFR][1000 genomes]
rs57498556	0.85[AFR][1000 genomes]
rs57913162	0.85[AFR][1000 genomes]
rs58080260	0.85[AFR][1000 genomes]
rs72846244	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7591477	0.85[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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1796560	chr2:128495645-128521448	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11693223	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128460400-128520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:128478000-128519200	Weak transcription	Small Intestine	intestine
3	chr2:128478800-128519400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:128479400-128560400	Weak transcription	Esophagus	oesophagus
5	chr2:128480200-128517800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:128480200-128519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:128480200-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:128480200-128519400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:128480200-128519600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:128480200-128519600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:128480200-128521400	Weak transcription	Spleen	Spleen
12	chr2:128480400-128518000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:128480400-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:128480400-128519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:128480800-128520200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:128481200-128512400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:128482400-128516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:128483400-128519200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:128492000-128519200	Weak transcription	Ovary	ovary
20	chr2:128492200-128519200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:128492200-128522200	Weak transcription	Aorta	Aorta
22	chr2:128493000-128519400	Weak transcription	HSMMtube	muscle
23	chr2:128493000-128526800	Weak transcription	Psoas Muscle	Psoas
24	chr2:128493000-128528000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:128494000-128519200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:128496200-128519200	Weak transcription	Fetal Kidney	kidney
27	chr2:128496600-128520600	Weak transcription	Brain Germinal Matrix	brain
28	chr2:128497200-128519000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:128498000-128519200	Weak transcription	Fetal Brain Male	brain
30	chr2:128498200-128562800	Weak transcription	Pancreas	Pancrea
31	chr2:128498400-128533800	Weak transcription	Right Ventricle	heart
32	chr2:128498800-128519200	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:128499000-128519200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:128499200-128515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:128499200-128519200	Weak transcription	Colonic Mucosa	Colon
36	chr2:128499200-128519200	Weak transcription	Gastric	stomach
37	chr2:128499200-128519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:128500600-128510000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:128500800-128515400	Weak transcription	NH-A	brain
40	chr2:128501200-128509800	Strong transcription	HepG2	liver
41	chr2:128501200-128513200	Strong transcription	Fetal Thymus	thymus
42	chr2:128501400-128527400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:128502000-128509800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:128502400-128508800	Strong transcription	Thymus	Thymus
45	chr2:128503000-128508600	Weak transcription	Fetal Intestine Large	intestine
46	chr2:128503000-128513000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:128503000-128517800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:128503000-128519200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:128503000-128519400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:128503000-128519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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