Variant report

Variant	rs12269727
Chromosome Location	chr11:65086145-65086146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
2	chr11:65085057..65089903-chr11:65095302..65099017,4	MCF-7	breast:
3	chr11:65081201..65083940-chr11:65084529..65087415,2	K562	blood:
4	chr11:65082240..65084133-chr11:65085882..65087992,2	MCF-7	breast:
5	chr11:65085883..65088356-chr11:65092626..65095231,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149798	Chromatin interaction
ENSG00000173825	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1152611	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633466	0.81[EUR][1000 genomes]
rs1858783	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28781278	0.92[EUR][1000 genomes]
rs2904986	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3016000	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149813	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs482842	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs487568	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs487989	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs488289	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs499027	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs503277	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506280	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs507005	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs509303	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526502	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs560097	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs592050	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs603286	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611910	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs626555	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs626802	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs630055	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs636928	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs655433	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs667341	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs668735	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs673147	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676573	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8638	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	984 gene(s)	inside rSNPs	diseases
6	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65083200-65093400	Weak transcription	Aorta	Aorta
2	chr11:65083400-65087800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:65083600-65096600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:65083800-65088400	Weak transcription	Small Intestine	intestine
5	chr11:65083800-65096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:65084000-65088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:65084400-65088600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:65084600-65088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:65084800-65086800	Weak transcription	Spleen	Spleen
10	chr11:65084800-65087000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:65084800-65087000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:65084800-65087000	Weak transcription	Placenta	Placenta
13	chr11:65084800-65087000	Weak transcription	Lung	lung
14	chr11:65084800-65087200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:65084800-65087200	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:65084800-65088000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:65084800-65088200	Weak transcription	Esophagus	oesophagus
18	chr11:65085000-65086200	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:65085000-65087000	Weak transcription	Left Ventricle	heart
20	chr11:65085000-65087000	Weak transcription	HSMMtube	muscle
21	chr11:65085000-65088000	Weak transcription	Right Ventricle	heart
22	chr11:65085000-65088200	Weak transcription	Fetal Brain Female	brain
23	chr11:65085000-65088200	Weak transcription	Right Atrium	heart
24	chr11:65085000-65090400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr11:65085000-65100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:65085200-65087000	Enhancers	Brain Hippocampus Middle	brain
27	chr11:65085200-65087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:65085200-65087000	Weak transcription	Gastric	stomach
29	chr11:65085200-65087200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:65085200-65087200	Weak transcription	Liver	Liver
31	chr11:65085200-65087200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:65085200-65087200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:65085200-65087200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:65085200-65087400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:65085200-65087400	Weak transcription	Colonic Mucosa	Colon
36	chr11:65085200-65087800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:65085200-65087800	Weak transcription	HSMM	muscle
38	chr11:65085200-65088000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:65085200-65088000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:65085200-65088000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:65085200-65088000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:65085200-65088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:65085200-65088000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:65085200-65088000	Weak transcription	Fetal Lung	lung
45	chr11:65085200-65088000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:65085200-65088000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:65085200-65088000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:65085200-65088000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:65085200-65088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65085200-65088200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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