Variant report

Variant	rs2276120
Chromosome Location	chr11:67264679-67264680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67264620-67264812	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67263850..67266105-chr11:67266792..67269183,3	MCF-7	breast:

Variant related genes	Relation type
PITPNM1	TF binding region
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11601325	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12799746	0.81[ASN][1000 genomes]
rs1871042	0.86[JPT][hapmap]
rs35787427	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs36089024	0.82[ASN][1000 genomes]
rs4084113	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs4465371	0.86[JPT][hapmap]
rs7114510	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs749174	0.86[JPT][hapmap]
rs917570	0.88[JPT][hapmap]
rs947895	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2276120	RPS6KB2	cis	Lymphoblastoid	GTEx

Chromatin state (count:126 , 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	chr11:67251600-67268400	Weak transcription	NH-A	brain
6	chr11:67251600-67268600	Strong transcription	Fetal Intestine Small	intestine
7	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
8	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
9	chr11:67252600-67270000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:67252600-67270200	Strong transcription	Fetal Stomach	stomach
11	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
12	chr11:67252800-67270000	Weak transcription	Fetal Brain Male	brain
13	chr11:67252800-67271400	Weak transcription	Right Atrium	heart
14	chr11:67253800-67269600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:67254000-67265800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:67254000-67268000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:67254000-67268000	Strong transcription	Brain Germinal Matrix	brain
18	chr11:67254000-67268000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:67254000-67270000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:67254000-67270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:67254000-67271000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:67254200-67265600	Strong transcription	Lung	lung
23	chr11:67254200-67266400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:67254200-67266400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:67254200-67268600	Strong transcription	Gastric	stomach
26	chr11:67254400-67265000	Strong transcription	Liver	Liver
27	chr11:67254400-67268000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:67254400-67268000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:67254400-67270600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:67254400-67271200	Weak transcription	K562	blood
31	chr11:67254600-67265800	Strong transcription	Adipose Nuclei	Adipose
32	chr11:67254600-67266000	Strong transcription	Left Ventricle	heart
33	chr11:67254600-67266800	Strong transcription	Primary T cells from cord blood	blood
34	chr11:67254600-67267000	Strong transcription	Fetal Brain Female	brain
35	chr11:67254600-67270600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:67254800-67265600	Strong transcription	Spleen	Spleen
37	chr11:67254800-67267400	Strong transcription	Thymus	Thymus
38	chr11:67254800-67270800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:67254800-67271000	Weak transcription	HepG2	liver
40	chr11:67255000-67268000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:67255800-67270200	Strong transcription	Dnd41	blood
42	chr11:67255800-67272000	Weak transcription	Fetal Kidney	kidney
43	chr11:67256000-67270400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:67256200-67264800	Weak transcription	Hela-S3	cervix
45	chr11:67256400-67270800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:67256600-67267000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:67256600-67270200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:67256600-67270400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:67256600-67270600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:67257000-67270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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