Variant report

Variant	rs2276020
Chromosome Location	chr11:67257556-67257557
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67250117..67252279-chr11:67255664..67259072,3	MCF-7	breast:
2	chr11:67253955..67257182-chr11:67257453..67261752,5	K562	blood:
3	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
4	chr11:67203143..67205164-chr11:67257463..67259295,2	K562	blood:
5	chr11:67255717..67258681-chr11:67274499..67276548,2	K562	blood:
6	chr11:67256017..67258793-chr11:67272672..67274747,2	MCF-7	breast:
7	chr11:67234553..67237458-chr11:67256948..67259819,3	K562	blood:
8	chr11:67239168..67241021-chr11:67256914..67258596,2	MCF-7	breast:
9	chr11:67257404..67259607-chr11:67262429..67265182,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167797	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10896171	1.00[MEX][hapmap]
rs10896176	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227771	1.00[MEX][hapmap]
rs11227780	1.00[MEX][hapmap]
rs11227848	1.00[CEU][hapmap]
rs1272686	0.86[JPT][hapmap];1.00[TSI][hapmap]
rs17847832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2169650	1.00[CEU][hapmap]
rs2228522	1.00[MEX][hapmap]
rs2255990	1.00[MEX][hapmap]
rs3815364	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs56769021	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57538070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57866382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604904	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs60652240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61035249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739507	0.91[EUR][1000 genomes]
rs627956	0.86[JPT][hapmap]
rs672432	0.86[JPT][hapmap];1.00[TSI][hapmap]
rs682208	0.80[CHB][hapmap]
rs687058	0.80[CHB][hapmap];1.00[TSI][hapmap]
rs687343	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs687376	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
6	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
7	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
8	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' 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	146 gene(s)	inside rSNPs	diseases
13	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
14	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
19	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
20	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
21	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2276020	GSTP1	cis	lymphoblastoid	seeQTL
rs2276020	NUP210	trans	brain	seeQTL
rs2276020	GSTP1	cis	multi-tissue	Pritchard
rs2276020	RPS6KB2	cis	lymphoblastoid	seeQTL
rs2276020	TRIB3	trans	brain	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:67251400-67268000	Weak transcription	HSMMtube	muscle
3	chr11:67251400-67271200	Weak transcription	HSMM	muscle
4	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
5	chr11:67251600-67259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:67251600-67268400	Weak transcription	NH-A	brain
7	chr11:67251600-67268600	Strong transcription	Fetal Intestine Small	intestine
8	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
9	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
10	chr11:67252000-67257600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:67252600-67257600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:67252600-67270000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:67252600-67270200	Strong transcription	Fetal Stomach	stomach
14	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
15	chr11:67252800-67270000	Weak transcription	Fetal Brain Male	brain
16	chr11:67252800-67271400	Weak transcription	Right Atrium	heart
17	chr11:67253800-67258600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:67253800-67262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:67253800-67263800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:67253800-67269600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:67254000-67258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:67254000-67259000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:67254000-67259000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:67254000-67259200	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:67254000-67259400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:67254000-67261800	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:67254000-67265800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:67254000-67268000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:67254000-67268000	Strong transcription	Brain Germinal Matrix	brain
30	chr11:67254000-67268000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:67254000-67270000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:67254000-67270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:67254000-67271000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:67254200-67258200	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr11:67254200-67259000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:67254200-67259200	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:67254200-67260600	Strong transcription	NHEK	skin
38	chr11:67254200-67261600	Strong transcription	Brain Anterior Caudate	brain
39	chr11:67254200-67261800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:67254200-67261800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:67254200-67263800	Strong transcription	NHLF	lung
42	chr11:67254200-67265600	Strong transcription	Lung	lung
43	chr11:67254200-67266400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:67254200-67266400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:67254200-67268600	Strong transcription	Gastric	stomach
46	chr11:67254400-67258800	Weak transcription	Small Intestine	intestine
47	chr11:67254400-67261200	Strong transcription	Right Ventricle	heart
48	chr11:67254400-67263800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:67254400-67265000	Strong transcription	Liver	Liver
50	chr11:67254400-67268000	Strong transcription	Primary monocytes fromperipheralblood	blood

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