Variant report

Variant	rs7484125
Chromosome Location	chr11:46588267-46588268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46581863..46583906-chr11:46587384..46589356,3	K562	blood:
2	chr11:46584966..46589742-chr11:46590333..46593915,5	K562	blood:
3	chr11:46586292..46589181-chr11:46637157..46640146,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11038871	0.86[EUR][1000 genomes]
rs11038910	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317826	0.87[EUR][1000 genomes]
rs17787804	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740973	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3802890	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61882719	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485686	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68002803	0.83[EUR][1000 genomes]
rs7130028	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7925678	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7949282	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:46578000-46606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46578200-46591400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:46579600-46596600	Weak transcription	Lung	lung
6	chr11:46579800-46596000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46579800-46606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:46582200-46593600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:46582400-46589000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:46582400-46589400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:46582600-46591200	Weak transcription	Aorta	Aorta
12	chr11:46582600-46592000	Weak transcription	Brain Angular Gyrus	brain
13	chr11:46583000-46593000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:46583000-46609600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:46583200-46589000	Weak transcription	Fetal Stomach	stomach
17	chr11:46583200-46603800	Weak transcription	Right Atrium	heart
18	chr11:46583200-46606200	Weak transcription	K562	blood
19	chr11:46583200-46611800	Weak transcription	Thymus	Thymus
20	chr11:46583200-46612200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:46583400-46596200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:46583400-46597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:46583400-46608400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:46583600-46592200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:46583600-46612400	Weak transcription	Primary B cells from cord blood	blood
27	chr11:46584000-46589200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:46584000-46592200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:46584000-46592200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:46584000-46592400	Weak transcription	Primary T cells from cord blood	blood
31	chr11:46584000-46592400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:46584000-46592400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:46584000-46592600	Weak transcription	GM12878-XiMat	blood
34	chr11:46584000-46613600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:46584200-46592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:46584200-46596400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:46584800-46589200	Weak transcription	Fetal Thymus	thymus
38	chr11:46586400-46592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:46586600-46588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:46586600-46592000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:46586600-46613800	Weak transcription	NH-A	brain
42	chr11:46586800-46592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:46586800-46593000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:46586800-46593600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:46586800-46596200	Weak transcription	A549	lung
46	chr11:46587000-46596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:46587000-46602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:46587200-46589200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:46587200-46592200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:46587200-46592400	Weak transcription	Psoas Muscle	Psoas

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