Variant report

Variant	rs1954769
Chromosome Location	chr11:86518265-86518266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86317084..86318773-chr11:86517876..86519532,2	MCF-7	breast:
2	chr11:86516893..86519182-chr11:86522443..86524775,2	K562	blood:
3	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
4	chr11:86406157..86407720-chr11:86518083..86520022,2	MCF-7	breast:
5	chr11:86313579..86315805-chr11:86518203..86520987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11601553	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11602695	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12420039	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12421517	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421942	0.92[ASN][1000 genomes]
rs12574979	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12802848	0.86[JPT][hapmap]
rs17211926	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17212012	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17819068	0.85[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs17819134	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17819181	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17819187	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1939110	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1939111	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939112	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs1939113	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939114	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939115	0.89[ASN][1000 genomes]
rs1939116	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939117	0.80[ASN][1000 genomes]
rs2155080	0.92[ASN][1000 genomes]
rs2155081	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs28517777	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35902217	0.80[ASN][1000 genomes]
rs36061072	0.80[ASN][1000 genomes]
rs3809048	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4128368	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4269941	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4291699	0.91[ASN][1000 genomes]
rs4304806	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4307743	0.87[JPT][hapmap]
rs4307748	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4423210	0.82[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4485132	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4495915	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4570601	0.86[JPT][hapmap]
rs4944630	0.87[JPT][hapmap]
rs55646317	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58512185	0.94[AMR][1000 genomes]
rs58976693	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60023003	0.84[AMR][1000 genomes]
rs61707378	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6592315	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7105467	0.80[AMR][1000 genomes]
rs7108490	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118751	0.88[ASN][1000 genomes]
rs7120320	0.80[AMR][1000 genomes]
rs7123349	0.80[ASN][1000 genomes]
rs7126492	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7131625	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs744292	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7931274	0.88[ASN][1000 genomes]
rs7940201	0.80[ASN][1000 genomes]
rs7948063	0.86[JPT][hapmap]
rs7951582	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86512600-86518600	Weak transcription	Small Intestine	intestine
3	chr11:86512600-86520600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:86512800-86518400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
6	chr11:86513200-86519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:86513400-86520400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:86513600-86518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:86513600-86518600	Weak transcription	Lung	lung
10	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
11	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:86514000-86518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:86514000-86523200	Weak transcription	Psoas Muscle	Psoas
15	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:86514200-86520400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
19	chr11:86514600-86521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:86514800-86519200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:86515000-86519600	Weak transcription	Fetal Brain Male	brain
22	chr11:86515000-86520000	Genic enhancers	Hela-S3	cervix
23	chr11:86515200-86519000	Enhancers	Colon Smooth Muscle	Colon
24	chr11:86515600-86519200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:86515600-86521600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:86516000-86518600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:86516000-86518600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:86516000-86518800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:86516200-86518800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:86516200-86519200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:86516200-86519600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:86516200-86523400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:86516400-86518600	Weak transcription	Ovary	ovary
35	chr11:86516400-86518800	Weak transcription	Aorta	Aorta
36	chr11:86516400-86519400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:86516600-86522800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:86516600-86525400	Weak transcription	Fetal Heart	heart
39	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
40	chr11:86516800-86518400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:86516800-86518400	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr11:86516800-86518600	Weak transcription	Fetal Stomach	stomach
43	chr11:86516800-86518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:86516800-86521600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
46	chr11:86517000-86518800	Genic enhancers	HUVEC	blood vessel
47	chr11:86517200-86518800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:86517200-86519400	Genic enhancers	A549	lung
49	chr11:86517200-86520000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:86517200-86521200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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