Variant report

Variant	rs604414
Chromosome Location	chr11:93490682-93490683
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:
2	chr11:93490567..93493533-chr11:93516830..93519053,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182919	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10741468	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765630	0.83[AMR][1000 genomes]
rs10765632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831087	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281968	0.84[AFR][1000 genomes]
rs1939566	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2434983	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2508574	1.00[EUR][1000 genomes]
rs4284369	0.83[AMR][1000 genomes]
rs4595504	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs584474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592526	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs607826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs614003	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs622231	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs624883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs653934	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655208	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657177	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660297	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs666470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669937	1.00[EUR][1000 genomes]
rs683660	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694307	1.00[EUR][1000 genomes]
rs7123801	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73561150	1.00[EUR][1000 genomes]
rs73561172	1.00[EUR][1000 genomes]
rs73563050	1.00[EUR][1000 genomes]
rs7939434	1.00[EUR][1000 genomes]
rs7940598	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475400-93490800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:93475400-93490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
5	chr11:93476000-93491400	Weak transcription	Osteobl	bone
6	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
7	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:93476200-93499800	Weak transcription	NH-A	brain
11	chr11:93477000-93491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:93477200-93490800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:93477200-93491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:93477200-93491400	Weak transcription	NHLF	lung
15	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
16	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
17	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:93481400-93491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:93482000-93499600	Weak transcription	NHEK	skin
20	chr11:93482400-93499200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:93482800-93498400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:93483000-93497800	Strong transcription	Liver	Liver
23	chr11:93483800-93494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:93484800-93498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:93485000-93491800	Strong transcription	Fetal Stomach	stomach
26	chr11:93485000-93498600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:93485000-93499800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:93485200-93491400	Strong transcription	Fetal Intestine Large	intestine
29	chr11:93485200-93497200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:93485200-93497600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:93485400-93498600	Strong transcription	Fetal Thymus	thymus
32	chr11:93485600-93492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:93486000-93499000	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:93486200-93497200	Weak transcription	Right Atrium	heart
35	chr11:93486600-93490800	Strong transcription	Fetal Kidney	kidney
36	chr11:93486600-93496000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:93486600-93497000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:93486600-93497000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:93486600-93497200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:93486600-93497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:93486600-93498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:93486600-93499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:93486600-93499000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:93486600-93499000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:93486800-93493800	Strong transcription	Dnd41	blood
46	chr11:93486800-93496200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:93486800-93496600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:93486800-93497000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:93486800-93497000	Strong transcription	Adipose Nuclei	Adipose
50	chr11:93486800-93497200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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