Variant report

Variant	rs59675216
Chromosome Location	chr11:121396612-121396613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121394952..121397845-chr11:121402753..121405692,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11501161	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11501162	0.81[AFR][1000 genomes]
rs12277675	0.81[AFR][1000 genomes]
rs12285364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12285564	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12290890	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12421319	0.83[AFR][1000 genomes]
rs17125414	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4936635	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7112662	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs755678	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
2	chr11:121369000-121396800	Weak transcription	Ovary	ovary
3	chr11:121378400-121397800	Strong transcription	HepG2	liver
4	chr11:121379400-121398000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:121381000-121397000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr11:121383000-121398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:121385600-121396800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:121385600-121418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:121391400-121397200	Strong transcription	Liver	Liver
10	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:121392400-121414800	Weak transcription	Stomach Mucosa	stomach
12	chr11:121393400-121414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:121393600-121415400	Weak transcription	Colonic Mucosa	Colon
14	chr11:121394000-121396800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:121394600-121397400	ZNF genes & repeats	GM12878-XiMat	blood
16	chr11:121395000-121403000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:121395000-121404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:121395200-121396800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr11:121395200-121396800	ZNF genes & repeats	Dnd41	blood
20	chr11:121395200-121397400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:121395200-121403000	Weak transcription	Thymus	Thymus
22	chr11:121395200-121414000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:121395200-121414400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:121395400-121397000	Strong transcription	Fetal Thymus	thymus
26	chr11:121395400-121400200	Weak transcription	Small Intestine	intestine
27	chr11:121395400-121403000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:121395400-121404000	Weak transcription	Brain Angular Gyrus	brain
29	chr11:121395400-121404600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:121395400-121424600	Weak transcription	Gastric	stomach
31	chr11:121395600-121397000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:121395800-121396800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr11:121395800-121396800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr11:121395800-121396800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr11:121395800-121397000	ZNF genes & repeats	Fetal Kidney	kidney
36	chr11:121396000-121396800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:121396000-121396800	ZNF genes & repeats	Fetal Brain Female	brain
38	chr11:121396000-121396800	ZNF genes & repeats	Fetal Lung	lung
39	chr11:121396200-121396800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:121396200-121403000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:121396400-121396800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:121396400-121396800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:121396400-121396800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:121396400-121396800	ZNF genes & repeats	Aorta	Aorta
45	chr11:121396400-121396800	ZNF genes & repeats	Esophagus	oesophagus
46	chr11:121396400-121396800	ZNF genes & repeats	Fetal Stomach	stomach
47	chr11:121396400-121396800	ZNF genes & repeats	Spleen	Spleen
48	chr11:121396400-121405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:121396400-121414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood

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