Variant report

Variant	rs681411
Chromosome Location	chr11:77515230-77515231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77515186..77517224-chr11:77704875..77706817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149262	Chromatin interaction

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

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

rs_ID	r²[population]
rs11237265	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11820337	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12225188	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12417115	0.82[JPT][hapmap]
rs12418335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793335	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1793340	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2186562	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145700	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs501153	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs516529	0.83[JPT][hapmap]
rs529181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55190	0.85[ASN][1000 genomes]
rs567814	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs616354	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs618535	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634477	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs648842	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650636	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs665363	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs682324	0.96[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs687615	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111625	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7117813	0.89[YRI][hapmap]
rs7119332	0.89[YRI][hapmap]
rs7121559	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7924567	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931137	0.82[JPT][hapmap]
rs7932547	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7941302	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949468	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77463800-77527000	Weak transcription	Aorta	Aorta
2	chr11:77475200-77527800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:77475400-77522000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:77475400-77529000	Weak transcription	NHLF	lung
5	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:77475800-77522000	Weak transcription	Hela-S3	cervix
7	chr11:77482800-77525800	Weak transcription	Fetal Lung	lung
8	chr11:77487400-77522000	Weak transcription	Placenta	Placenta
9	chr11:77491400-77517600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:77495800-77528200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:77496000-77530200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:77499000-77525600	Weak transcription	HMEC	breast
13	chr11:77501200-77525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:77501400-77521600	Weak transcription	Fetal Kidney	kidney
15	chr11:77501400-77526800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:77502000-77516800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:77503400-77525800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:77503600-77525000	Weak transcription	Ovary	ovary
19	chr11:77503600-77529600	Weak transcription	Right Ventricle	heart
20	chr11:77503800-77521200	Weak transcription	Fetal Thymus	thymus
21	chr11:77503800-77525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:77504000-77521800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:77504000-77524400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:77504800-77524600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:77504800-77525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:77505000-77518000	Weak transcription	A549	lung
27	chr11:77505000-77522200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:77505000-77524000	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:77505000-77528400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:77505200-77521600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:77505200-77524200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:77505400-77525800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:77505600-77520000	Weak transcription	Primary T cells from cord blood	blood
34	chr11:77505600-77521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:77506800-77516800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:77506800-77528200	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:77508000-77527800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:77509400-77528800	Weak transcription	Brain Germinal Matrix	brain
39	chr11:77509600-77518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:77509800-77530000	Weak transcription	NH-A	brain
41	chr11:77510000-77521600	Weak transcription	Thymus	Thymus
42	chr11:77510000-77524600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:77510800-77517000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:77510800-77518200	Weak transcription	GM12878-XiMat	blood
45	chr11:77510800-77521200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:77511200-77520200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:77511400-77526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:77511800-77516800	Weak transcription	Stomach Mucosa	stomach
49	chr11:77511800-77518600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:77512000-77518200	Weak transcription	K562	blood

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