Variant report

Variant	rs11133785
Chromosome Location	chr5:14339302-14339303
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	chr5:14333298..14335289-chr5:14337872..14339600,2	K562	blood:
2	chr5:14331492..14334108-chr5:14338473..14341429,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10866506	0.81[EUR][1000 genomes]
rs10866507	0.81[EUR][1000 genomes]
rs11959397	0.85[EUR][1000 genomes]
rs12109880	0.85[EUR][1000 genomes]
rs12110267	0.85[EUR][1000 genomes]
rs16903375	0.83[EUR][1000 genomes]
rs16903389	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903421	0.85[EUR][1000 genomes]
rs16903423	0.85[EUR][1000 genomes]
rs16903428	0.85[EUR][1000 genomes]
rs16903434	0.81[EUR][1000 genomes]
rs1697168	0.83[EUR][1000 genomes]
rs2463803	0.85[EUR][1000 genomes]
rs57017859	0.85[EUR][1000 genomes]
rs58383010	0.87[EUR][1000 genomes]
rs59405120	0.81[EUR][1000 genomes]
rs60738268	0.85[EUR][1000 genomes]
rs60768136	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892841	0.85[EUR][1000 genomes]
rs61059406	0.85[EUR][1000 genomes]
rs61469842	0.81[EUR][1000 genomes]
rs62344973	0.87[EUR][1000 genomes]
rs62344976	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344979	0.85[EUR][1000 genomes]
rs62344981	0.83[EUR][1000 genomes]
rs62344983	0.85[EUR][1000 genomes]
rs62345009	0.81[EUR][1000 genomes]
rs62345012	0.81[EUR][1000 genomes]
rs62346588	0.83[EUR][1000 genomes]
rs62346590	0.87[EUR][1000 genomes]
rs66554336	0.85[EUR][1000 genomes]
rs6879505	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6887831	0.83[EUR][1000 genomes]
rs697558	0.83[EUR][1000 genomes]
rs697559	0.83[EUR][1000 genomes]
rs7706484	0.81[EUR][1000 genomes]
rs7710935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7731443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732548	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs773764	0.83[EUR][1000 genomes]
rs773765	0.83[EUR][1000 genomes]
rs773766	0.83[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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
5	chr5:14314800-14342200	Strong transcription	Osteobl	bone
6	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
12	chr5:14328000-14344400	Strong transcription	HMEC	breast
13	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:14329800-14340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:14330000-14339600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:14330400-14340000	Strong transcription	Liver	Liver
17	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:14330800-14339800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr5:14330800-14340000	Strong transcription	HepG2	liver
21	chr5:14330800-14341600	Strong transcription	Placenta	Placenta
22	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
23	chr5:14331000-14340200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:14331000-14341800	Strong transcription	Fetal Intestine Large	intestine
25	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:14331600-14341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:14331600-14342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:14332200-14341800	Strong transcription	GM12878-XiMat	blood
30	chr5:14332400-14340000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:14332600-14344400	Strong transcription	NHEK	skin
32	chr5:14332800-14339800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:14332800-14340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:14332800-14340000	Strong transcription	Fetal Stomach	stomach
35	chr5:14333000-14340000	Strong transcription	Fetal Intestine Small	intestine
36	chr5:14333000-14343400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:14333200-14341000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:14333400-14340000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:14333400-14340800	Strong transcription	Primary B cells from cord blood	blood
40	chr5:14333600-14341400	Weak transcription	Brain Substantia Nigra	brain
41	chr5:14333800-14340000	Strong transcription	Colon Smooth Muscle	Colon
42	chr5:14334000-14349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:14334200-14339800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:14334800-14342200	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:14334800-14343400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
47	chr5:14335200-14340000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:14335200-14348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:14335600-14341000	Strong transcription	A549	lung
50	chr5:14336000-14339600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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