Variant report

Variant	rs2853095
Chromosome Location	chr11:77121198-77121199
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	chr11:77120352..77122369-chr11:77122949..77125194,2	K562	blood:
2	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1037452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10501425	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10899366	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs10899367	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs10899372	0.82[ASN][1000 genomes]
rs10899373	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10899377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11237190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11237198	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11237200	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11820118	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11828786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223138	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12420360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12421190	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1453341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17135670	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135689	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2100393	0.82[AMR][1000 genomes]
rs2154754	0.94[JPT][hapmap]
rs2156863	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2467481	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2602460	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602462	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2602472	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs2602473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2602474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2602475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2602480	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2602481	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs2602482	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2725829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2725834	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729749	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2729750	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729751	0.93[ASN][1000 genomes]
rs2729752	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2729756	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2729757	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729758	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2729763	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2729772	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs2729775	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844327	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2844335	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2852381	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852383	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2852389	0.99[ASN][1000 genomes]
rs2852390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2853084	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853085	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2853089	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs2853091	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2853094	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2853098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2888377	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4092275	0.93[ASN][1000 genomes]
rs4944159	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4944160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945161	0.82[JPT][hapmap]
rs503406	0.83[JPT][hapmap]
rs57305199	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57440754	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6592721	0.99[ASN][1000 genomes]
rs7105662	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7112264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120719	0.81[AMR][1000 genomes]
rs724369	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs733358	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7944289	0.99[ASN][1000 genomes]
rs876319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs896841	0.89[AMR][1000 genomes]
rs947809	0.94[ASN][1000 genomes]
rs947810	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9634030	0.89[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
3	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
4	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
9	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:77117200-77121400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:77117200-77121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:77117400-77121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:77117400-77121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:77117600-77121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:77117600-77121200	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:77117800-77121200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:77117800-77122200	Weak transcription	Lung	lung
21	chr11:77118600-77121200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:77118800-77121200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:77118800-77121600	Enhancers	NHEK	skin
24	chr11:77118800-77122200	Weak transcription	Psoas Muscle	Psoas
25	chr11:77118800-77122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:77118800-77123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:77119000-77121200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:77119000-77121200	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:77119000-77121200	Weak transcription	Fetal Stomach	stomach
30	chr11:77119000-77121200	Weak transcription	Small Intestine	intestine
31	chr11:77119000-77121200	Weak transcription	NHLF	lung
32	chr11:77119000-77122200	Weak transcription	Pancreas	Pancrea
33	chr11:77119200-77121200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:77119200-77121200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:77119200-77121200	Weak transcription	Osteobl	bone
36	chr11:77119200-77121400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:77119200-77121600	Weak transcription	Fetal Brain Female	brain
38	chr11:77119200-77121600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:77119200-77122000	Weak transcription	Fetal Lung	lung
40	chr11:77119200-77122000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:77119200-77122000	Weak transcription	HSMM	muscle
42	chr11:77119200-77122200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:77119200-77122200	Weak transcription	HSMMtube	muscle
44	chr11:77119200-77122400	Weak transcription	Ovary	ovary
45	chr11:77119200-77122400	Weak transcription	Right Atrium	heart
46	chr11:77119400-77121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:77119400-77121200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:77119400-77121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:77119400-77121200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:77119400-77121200	Weak transcription	NH-A	brain

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