Variant report

Variant	rs11605856
Chromosome Location	chr11:63925528-63925529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63916625..63918518-chr11:63924458..63926183,2	MCF-7	breast:
2	chr11:63924134..63929191-chr11:63930561..63934852,10	K562	blood:
3	chr11:63921851..63923670-chr11:63924013..63926369,2	MCF-7	breast:
4	chr11:63891615..63894610-chr11:63925302..63927632,2	K562	blood:
5	chr11:63779610..63782296-chr11:63923822..63926567,2	MCF-7	breast:
6	chr11:63923167..63927304-chr11:63949302..63952377,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1011219	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231710	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231713	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231726	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11600628	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11600667	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11604083	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605193	0.90[EUR][1000 genomes]
rs11607903	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417635	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419038	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773078	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2005272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2096706	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2186572	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3862371	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55942618	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970968	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56207008	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56311067	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57021319	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60394481	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61083753	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7103915	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109921	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7122408	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7123026	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs734762	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941773	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs947939	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11605856	NUDT22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63900200-63931800	Weak transcription	Lung	lung
2	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
5	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:63918600-63931800	Weak transcription	Gastric	stomach
8	chr11:63919000-63932000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:63919200-63928800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:63920000-63925600	Weak transcription	Fetal Intestine Small	intestine
11	chr11:63920200-63931800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:63920600-63928600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:63920600-63928800	Weak transcription	Aorta	Aorta
14	chr11:63920600-63931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:63920600-63931800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:63920600-63932200	Weak transcription	Brain Substantia Nigra	brain
17	chr11:63920600-63932200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:63920600-63932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:63920600-63932400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:63920800-63925600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:63920800-63931800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:63920800-63931800	Weak transcription	Liver	Liver
23	chr11:63920800-63931800	Weak transcription	Colonic Mucosa	Colon
24	chr11:63920800-63932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63921000-63931600	Weak transcription	Dnd41	blood
26	chr11:63921000-63931800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:63921000-63932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:63921000-63932200	Weak transcription	Small Intestine	intestine
29	chr11:63921000-63932400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:63921000-63932400	Weak transcription	A549	lung
31	chr11:63921200-63927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:63921400-63932200	Weak transcription	Esophagus	oesophagus
33	chr11:63921600-63929600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:63921800-63925600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:63921800-63932000	Weak transcription	Ovary	ovary
36	chr11:63921800-63932200	Weak transcription	K562	blood
37	chr11:63922000-63931800	Weak transcription	Brain Germinal Matrix	brain
38	chr11:63922000-63932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:63922000-63932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:63922200-63932200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:63922600-63930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:63923600-63927400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:63923800-63925600	Enhancers	Fetal Heart	heart
44	chr11:63923800-63925800	Enhancers	Fetal Muscle Leg	muscle
45	chr11:63924200-63932000	Weak transcription	HSMMtube	muscle
46	chr11:63924400-63925800	Strong transcription	Hela-S3	cervix
47	chr11:63924400-63926000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:63924400-63926400	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:63924400-63930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:63924400-63931600	Weak transcription	Spleen	Spleen

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