Variant report

Variant	rs12802369
Chromosome Location	chr11:72396800-72396801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72395838..72397835-chr11:72397897..72400604,2	MCF-7	breast:
2	chr11:71933813..71936010-chr11:72394188..72397078,2	MCF-7	breast:
3	chr11:72396151..72399166-chr11:72401307..72404204,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11235557	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235558	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235559	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12362256	0.83[ASN][1000 genomes]
rs12363065	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576046	0.98[ASN][1000 genomes]
rs12576058	0.98[ASN][1000 genomes]
rs12786302	0.97[ASN][1000 genomes]
rs12787293	0.98[ASN][1000 genomes]
rs12797368	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12799451	0.98[ASN][1000 genomes]
rs12804316	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs163694	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168175	0.81[ASN][1000 genomes]
rs1872126	0.97[ASN][1000 genomes]
rs189332	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2035467	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037030	0.84[ASN][1000 genomes]
rs2306609	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs341053	0.96[ASN][1000 genomes]
rs341060	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs341061	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs341062	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34142547	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs342322	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34285624	0.98[ASN][1000 genomes]
rs34802028	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35748558	0.98[ASN][1000 genomes]
rs3758934	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758935	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758936	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781913	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781916	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7126790	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs900613	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs900614	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs900615	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907857	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72388000-72397200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:72389600-72397800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:72390000-72397000	Weak transcription	Primary B cells from cord blood	blood
4	chr11:72390200-72397800	Weak transcription	HepG2	liver
5	chr11:72391400-72403800	Weak transcription	Small Intestine	intestine
6	chr11:72391800-72398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:72392200-72402600	Weak transcription	HUVEC	blood vessel
8	chr11:72392800-72396800	Weak transcription	Fetal Brain Male	brain
9	chr11:72392800-72397200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:72392800-72397400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:72392800-72404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:72392800-72404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72392800-72405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:72393000-72397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:72393000-72398200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:72393200-72398400	Weak transcription	Aorta	Aorta
17	chr11:72393200-72400800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:72393200-72403800	Weak transcription	Fetal Kidney	kidney
19	chr11:72393800-72413400	Strong transcription	Fetal Intestine Small	intestine
20	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:72394000-72398200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:72394000-72399600	Genic enhancers	Spleen	Spleen
23	chr11:72394000-72413800	Strong transcription	Fetal Intestine Large	intestine
24	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
26	chr11:72394200-72408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:72394400-72399000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr11:72394400-72412000	Strong transcription	GM12878-XiMat	blood
32	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:72394600-72396800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:72394600-72397200	Strong transcription	Fetal Thymus	thymus
37	chr11:72394600-72397800	Strong transcription	Colonic Mucosa	Colon
38	chr11:72394600-72398400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:72394600-72400800	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr11:72394600-72412800	Strong transcription	Gastric	stomach
41	chr11:72394600-72413200	Strong transcription	Lung	lung
42	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
44	chr11:72394600-72430200	Strong transcription	Dnd41	blood
45	chr11:72394800-72397200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:72394800-72398400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:72395000-72398200	Enhancers	HSMMtube	muscle
48	chr11:72395000-72398800	Genic enhancers	NHLF	lung
49	chr11:72395000-72399000	Genic enhancers	Fetal Lung	lung
50	chr11:72395000-72401400	Genic enhancers	Placenta	Placenta

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