Variant report

Variant	rs1615585
Chromosome Location	chr11:57473675-57473676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57467690..57470283-chr11:57473431..57475034,2	MCF-7	breast:
2	chr11:57467968..57471169-chr11:57473477..57476394,3	MCF-7	breast:
3	chr11:57469323..57472017-chr11:57472443..57474700,2	K562	blood:
4	chr11:57448539..57450852-chr11:57471944..57474684,2	K562	blood:

Variant related genes	Relation type
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1647400	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1783819	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs602061	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs669868	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv975360	chr11:57466716-57480320	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:57446600-57474200	Strong transcription	Fetal Intestine Large	intestine
6	chr11:57447000-57473800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:57447800-57474200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:57448200-57474400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:57448400-57473800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:57448600-57476400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:57449000-57476000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:57449400-57474200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:57449800-57474200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:57450400-57473800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:57451200-57474200	Strong transcription	Fetal Stomach	stomach
16	chr11:57453000-57475200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:57458000-57474600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:57458000-57475800	Strong transcription	Thymus	Thymus
19	chr11:57459200-57473800	Strong transcription	Primary T cells from cord blood	blood
20	chr11:57459200-57476200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:57461400-57478400	Weak transcription	Fetal Heart	heart
22	chr11:57464400-57478800	Weak transcription	Psoas Muscle	Psoas
23	chr11:57465400-57473800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:57465400-57473800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:57465400-57474000	Strong transcription	Dnd41	blood
26	chr11:57467600-57478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57468400-57478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:57468400-57478800	Weak transcription	Right Ventricle	heart
29	chr11:57469000-57476000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:57469200-57478800	Weak transcription	Ovary	ovary
31	chr11:57469400-57478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:57470600-57474400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:57470600-57474400	Strong transcription	Adipose Nuclei	Adipose
34	chr11:57470800-57474000	Strong transcription	Spleen	Spleen
35	chr11:57471400-57478000	Weak transcription	Primary B cells from cord blood	blood
36	chr11:57471600-57474400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:57471800-57478400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:57472000-57477800	Weak transcription	K562	blood
39	chr11:57472000-57478400	Weak transcription	Fetal Kidney	kidney
40	chr11:57472000-57478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:57472000-57478600	Weak transcription	Small Intestine	intestine
42	chr11:57472200-57477400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:57472200-57478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:57472200-57478400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:57472400-57477600	Weak transcription	HUVEC	blood vessel
46	chr11:57472400-57478000	Weak transcription	Hela-S3	cervix
47	chr11:57472400-57478400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:57472400-57478400	Weak transcription	Brain Angular Gyrus	brain
49	chr11:57472600-57473800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:57472600-57475000	Weak transcription	Liver	Liver

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