Variant report

Variant	rs11682274
Chromosome Location	chr2:128495905-128495906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128456601..128458532-chr2:128492967..128496167,3	K562	blood:
2	chr2:128490396..128493370-chr2:128495285..128497050,2	K562	blood:
3	chr2:128486918..128489823-chr2:128493774..128496162,2	K562	blood:
4	chr2:128493798..128496502-chr2:128498667..128503002,4	K562	blood:
5	chr2:128456601..128463539-chr2:128492967..128499033,10	K562	blood:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11557685	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11678032	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11692524	1.00[CEU][hapmap]
rs17418125	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17534053	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17534123	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17599575	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17600177	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3771291	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57498556	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57913162	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59036132	1.00[ASN][1000 genomes]
rs61187878	0.85[EUR][1000 genomes]
rs61730415	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6714620	1.00[CEU][hapmap]
rs7575961	1.00[CEU][hapmap]
rs7585200	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7591477	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][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
rs11682274	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 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	chr2:128476600-128502400	Weak transcription	Hela-S3	cervix
3	chr2:128478000-128519200	Weak transcription	Small Intestine	intestine
4	chr2:128478800-128519400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:128479200-128498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:128479400-128560400	Weak transcription	Esophagus	oesophagus
7	chr2:128480000-128498800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:128480200-128497800	Weak transcription	Right Ventricle	heart
9	chr2:128480200-128498600	Weak transcription	Gastric	stomach
10	chr2:128480200-128517800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:128480200-128519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:128480200-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:128480200-128519400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:128480200-128519600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:128480200-128519600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:128480200-128521400	Weak transcription	Spleen	Spleen
17	chr2:128480400-128505600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:128480400-128505800	Weak transcription	Fetal Brain Female	brain
19	chr2:128480400-128518000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:128480400-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:128480400-128519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:128480600-128505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:128480800-128520200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:128481000-128497200	Weak transcription	HUVEC	blood vessel
25	chr2:128481000-128501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:128481200-128502200	Weak transcription	NHEK	skin
27	chr2:128481200-128512400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:128481400-128497800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:128481600-128498000	Weak transcription	Lung	lung
30	chr2:128482000-128506200	Weak transcription	Fetal Stomach	stomach
31	chr2:128482200-128498000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:128482200-128502200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:128482400-128501000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:128482400-128502200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:128482400-128516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:128482600-128496000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:128482600-128497000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:128482600-128497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:128482600-128498400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:128482600-128501400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:128482600-128502400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:128482800-128498400	Weak transcription	Placenta	Placenta
43	chr2:128482800-128501200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:128482800-128501800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:128482800-128502400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:128483400-128519200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:128484000-128497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:128484000-128502000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:128484400-128496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:128484800-128497800	Weak transcription	Thymus	Thymus

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