Variant report

Variant	rs57021319
Chromosome Location	chr11:63956102-63956103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63888646..63891541-chr11:63955037..63956555,2	MCF-7	breast:
2	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
3	chr11:63951654..63956341-chr11:63991514..63996131,9	MCF-7	breast:
4	chr11:63954703..63956620-chr11:63982830..63984542,2	MCF-7	breast:
5	chr11:63955085..63958830-chr11:63958900..63961430,4	MCF-7	breast:
6	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
7	chr11:63951371..63956321-chr11:64011600..64016157,10	MCF-7	breast:
8	chr11:63950774..63958537-chr11:64070493..64074690,13	MCF-7	breast:
9	chr11:63951087..63956474-chr11:63963164..63967847,7	MCF-7	breast:
10	chr11:63951197..63955095-chr11:63955593..63958792,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256940	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000149743	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011219	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11231710	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231713	0.90[EUR][1000 genomes]
rs11231726	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600628	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600667	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11604083	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11605193	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11605856	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607903	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417635	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12419038	0.92[ASN][1000 genomes]
rs17773078	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2005272	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2096706	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2186572	0.88[EUR][1000 genomes]
rs3862371	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55942618	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55970968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56207008	0.91[EUR][1000 genomes]
rs56311067	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60394481	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7103915	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7109921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122408	0.81[EUR][1000 genomes]
rs7123026	0.89[EUR][1000 genomes]
rs734762	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7941773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs947939	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
11	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
12	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
13	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
14	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
15	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
19	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
20	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
21	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
22	nsv972037	chr11:63954439-63956243	Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57021319	NUDT22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63954600-63957400	Enhancers	Spleen	Spleen
2	chr11:63954600-63960000	Weak transcription	Gastric	stomach
3	chr11:63954600-63967400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:63954800-63958400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:63954800-63960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:63954800-63960000	Weak transcription	Aorta	Aorta
7	chr11:63955000-63956200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:63955000-63956200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:63955000-63956200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:63955000-63956200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:63955000-63956200	Enhancers	Brain Hippocampus Middle	brain
12	chr11:63955000-63956200	Enhancers	Fetal Heart	heart
13	chr11:63955000-63956200	Enhancers	Left Ventricle	heart
14	chr11:63955000-63956200	Enhancers	Right Atrium	heart
15	chr11:63955000-63956200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:63955000-63956200	Enhancers	Thymus	Thymus
17	chr11:63955000-63956400	Enhancers	Pancreas	Pancrea
18	chr11:63955000-63956400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:63955000-63957000	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr11:63955000-63957000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:63955000-63957400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:63955000-63957600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:63955000-63957600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr11:63955000-63958800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:63955000-63959400	Weak transcription	Psoas Muscle	Psoas
26	chr11:63955000-63959600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:63955000-63960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63955000-63960000	Weak transcription	Esophagus	oesophagus
29	chr11:63955000-63960600	Weak transcription	Fetal Kidney	kidney
30	chr11:63955000-63969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:63955200-63956200	Enhancers	Primary B cells from cord blood	blood
32	chr11:63955200-63956200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:63955200-63956400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:63955200-63956600	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:63955200-63956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:63955200-63956800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:63955200-63957000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:63955200-63957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:63955200-63957000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:63955200-63957000	Weak transcription	Fetal Lung	lung
41	chr11:63955200-63957200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:63955200-63957200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:63955200-63957400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:63955200-63957400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:63955200-63957400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:63955200-63957400	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:63955200-63957400	Genic enhancers	A549	lung
48	chr11:63955200-63959400	Weak transcription	Ovary	ovary
49	chr11:63955200-63959600	Weak transcription	NHEK	skin
50	chr11:63955200-63959800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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