Variant report

Variant	rs894457
Chromosome Location	chr11:4081504-4081505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4080672..4082452-chr11:4086243..4088490,2	MCF-7	breast:
2	chr11:3818441..3820065-chr11:4080616..4082390,2	K562	blood:
3	chr11:4080395..4082771-chr11:4086176..4088217,2	K562	blood:

Variant related genes	Relation type
ENSG00000110713	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10742229	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11030814	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11602757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1442725	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1465952	0.87[CEU][hapmap];0.88[AMR][1000 genomes]
rs1662163	0.85[EUR][1000 genomes]
rs2060822	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2289570	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412341	0.86[CHB][hapmap]
rs2898950	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2920137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2920140	1.00[ASN][1000 genomes]
rs2920141	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2920142	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2923947	0.85[ASN][1000 genomes]
rs2923951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2923952	0.93[ASN][1000 genomes]
rs2923954	0.85[ASN][1000 genomes]
rs2959060	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2959061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2959064	0.85[ASN][1000 genomes]
rs2959069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2959071	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2959072	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2959073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2959076	0.85[CHB][hapmap]
rs35695744	0.93[ASN][1000 genomes]
rs3794051	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3794052	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4910595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4910881	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7109811	0.85[AMR][1000 genomes]
rs7924858	1.00[ASN][1000 genomes]
rs7930739	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938946	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7945918	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs894455	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9735835	0.85[ASN][1000 genomes]
rs9988893	1.00[CHB][hapmap];1.00[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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
4	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4070800-4108600	Weak transcription	HSMM	muscle
7	chr11:4071000-4083600	Weak transcription	Fetal Brain Male	brain
8	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:4075800-4083200	Strong transcription	Primary T cells from cord blood	blood
10	chr11:4076000-4087000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:4076200-4081600	Weak transcription	A549	lung
12	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:4076600-4085200	Strong transcription	Dnd41	blood
14	chr11:4076800-4082600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:4076800-4082600	Strong transcription	Thymus	Thymus
16	chr11:4076800-4083200	Strong transcription	Liver	Liver
17	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:4078600-4081600	Enhancers	HMEC	breast
19	chr11:4078800-4084400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:4079000-4093000	Weak transcription	Brain Germinal Matrix	brain
21	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
22	chr11:4079200-4081600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:4079200-4085200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:4079400-4085600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:4079400-4085800	Weak transcription	Fetal Heart	heart
26	chr11:4079600-4083000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:4079600-4083400	Strong transcription	Fetal Thymus	thymus
28	chr11:4079600-4083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:4079600-4087200	Weak transcription	NH-A	brain
30	chr11:4079800-4083000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:4079800-4084600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:4079800-4085800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:4079800-4093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:4080000-4081600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:4080000-4083000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:4080000-4084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:4080000-4086200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:4080200-4082200	Enhancers	Psoas Muscle	Psoas
39	chr11:4080200-4082400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:4080200-4082600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:4080200-4083000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:4080200-4083000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:4080200-4083400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:4080200-4083400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:4080200-4083600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:4080200-4088000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:4080400-4081600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:4080400-4081600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:4080400-4081800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:4080400-4081800	Genic enhancers	Left Ventricle	heart

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