Variant report

Variant	rs11648003
Chromosome Location	chr16:72052348-72052349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72045342..72047128-chr16:72051412..72053398,2	MCF-7	breast:
2	chr16:72029514..72031784-chr16:72051952..72054768,2	MCF-7	breast:
3	chr16:72046573..72048947-chr16:72052268..72054115,2	K562	blood:
4	chr16:72049896..72052834-chr16:72059400..72062062,3	K562	blood:

Variant related genes	Relation type
ENSG00000102967	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048111	0.84[ASN][1000 genomes]
rs1035559	0.95[ASN][1000 genomes]
rs1035560	0.97[ASN][1000 genomes]
rs11642993	0.97[ASN][1000 genomes]
rs11864453	0.91[ASN][1000 genomes]
rs12924886	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2278027	0.97[ASN][1000 genomes]
rs3213420	0.96[ASN][1000 genomes]
rs3213422	0.90[ASN][1000 genomes]
rs3794695	0.83[AMR][1000 genomes]
rs4788597	0.82[ASN][1000 genomes]
rs4788598	0.82[ASN][1000 genomes]
rs4788600	0.85[ASN][1000 genomes]
rs7185215	0.96[ASN][1000 genomes]
rs7185407	0.97[ASN][1000 genomes]
rs7186207	0.91[ASN][1000 genomes]
rs7195958	0.90[ASN][1000 genomes]
rs7201491	0.97[ASN][1000 genomes]
rs752434	0.83[ASN][1000 genomes]
rs8051239	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
2	chr16:72043200-72053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:72043200-72054000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:72043200-72054600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:72043200-72054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:72043200-72054800	Weak transcription	Pancreas	Pancrea
7	chr16:72043200-72055000	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:72043200-72055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:72043200-72055200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:72043200-72056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72043200-72056600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:72043200-72057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:72043200-72057800	Weak transcription	NHDF-Ad	bronchial
14	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
19	chr16:72043800-72056800	Weak transcription	HSMM	muscle
20	chr16:72044000-72054800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:72044000-72057400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:72045600-72053400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:72045600-72059400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:72045600-72060200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:72045600-72060400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:72045600-72060600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:72045600-72062200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:72045600-72062400	Strong transcription	Dnd41	blood
29	chr16:72045800-72052600	Strong transcription	Fetal Intestine Small	intestine
30	chr16:72045800-72060200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:72045800-72060400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:72045800-72060400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:72045800-72064200	Strong transcription	Fetal Stomach	stomach
34	chr16:72046000-72052800	Strong transcription	Fetal Intestine Large	intestine
35	chr16:72046000-72053400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:72046000-72060200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:72046000-72064000	Strong transcription	Primary T cells from cord blood	blood
38	chr16:72046200-72052800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr16:72046200-72052800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:72046200-72053400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr16:72046200-72053800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr16:72046400-72053800	Strong transcription	Brain Germinal Matrix	brain
43	chr16:72046400-72060200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr16:72046400-72062200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:72046600-72052600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr16:72046800-72055200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:72047400-72059000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr16:72047800-72055000	Weak transcription	Osteobl	bone
49	chr16:72047800-72062000	Strong transcription	Thymus	Thymus
50	chr16:72047800-72062200	Strong transcription	Stomach Smooth Muscle	stomach

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