Variant report

Variant	rs4084238
Chromosome Location	chr11:67002108-67002109
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	chr11:67001329..67003402-chr11:67014947..67017604,2	MCF-7	breast:
2	chr11:66988845..66990484-chr11:67000195..67002705,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12279818	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12285097	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12417116	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12417770	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417887	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12418591	1.00[EUR][1000 genomes]
rs12419315	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420479	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420594	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420763	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421018	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573536	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	1.00[ASN][1000 genomes]
rs17148080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066494	0.82[AFR][1000 genomes]
rs3730140	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4382915	0.80[AMR][1000 genomes]
rs4567468	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930411	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930414	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930415	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930416	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58815002	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61525626	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61731786	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61759803	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61759806	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7396248	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs885833	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs887315	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
3	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66980400-67002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:66981000-67003800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:66982400-67003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:66982800-67002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:66982800-67002600	Strong transcription	Adipose Nuclei	Adipose
16	chr11:66987000-67006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:66990200-67002200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:66990400-67002200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:66990400-67003400	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:66990400-67004400	Strong transcription	Fetal Stomach	stomach
21	chr11:66990400-67005200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66990800-67002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66990800-67005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:66991000-67002400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:66991000-67002400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:66994400-67002400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66994600-67002200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:66994600-67002200	Strong transcription	Brain Substantia Nigra	brain
29	chr11:66994600-67002400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:66994600-67002400	Strong transcription	Dnd41	blood
31	chr11:66994800-67002200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:66994800-67002400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:66995800-67006400	Weak transcription	Fetal Brain Male	brain
34	chr11:66996400-67006400	Weak transcription	Aorta	Aorta
35	chr11:66996400-67006400	Weak transcription	Ovary	ovary
36	chr11:66996600-67006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66996600-67006400	Weak transcription	Colonic Mucosa	Colon
38	chr11:66996600-67006400	Weak transcription	Psoas Muscle	Psoas
39	chr11:66996800-67005600	Weak transcription	Fetal Kidney	kidney
40	chr11:66998000-67002800	Strong transcription	Fetal Thymus	thymus
41	chr11:66998200-67002400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:66998200-67006400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:66998400-67002200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:66999400-67006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:66999400-67006000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:66999400-67006400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:66999400-67006400	Weak transcription	Pancreas	Pancrea
48	chr11:66999600-67005000	Weak transcription	Left Ventricle	heart
49	chr11:66999600-67005200	Weak transcription	K562	blood
50	chr11:66999600-67005600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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