Variant report

Variant	rs4712135
Chromosome Location	chr6:56456580-56456581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014309	0.81[EUR][1000 genomes]
rs1014310	0.81[EUR][1000 genomes]
rs10484858	0.86[EUR][1000 genomes]
rs11751914	0.84[EUR][1000 genomes]
rs11969402	0.83[EUR][1000 genomes]
rs12200301	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13194995	0.81[EUR][1000 genomes]
rs13209548	0.84[EUR][1000 genomes]
rs16888055	0.81[EUR][1000 genomes]
rs1884285	0.80[EUR][1000 genomes]
rs2067543	0.81[EUR][1000 genomes]
rs2144405	0.81[EUR][1000 genomes]
rs2230862	0.88[EUR][1000 genomes]
rs36017808	0.81[EUR][1000 genomes]
rs4712136	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4712137	0.85[EUR][1000 genomes]
rs4712138	0.86[EUR][1000 genomes]
rs6459166	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6919941	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6926648	0.81[EUR][1000 genomes]
rs6929091	0.83[EUR][1000 genomes]
rs6931836	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7747060	0.90[EUR][1000 genomes]
rs7772239	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9349832	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9349835	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9349836	0.86[EUR][1000 genomes]
rs9357927	0.80[EUR][1000 genomes]
rs9370538	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9370539	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9370540	0.81[EUR][1000 genomes]
rs9370542	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9370544	0.81[EUR][1000 genomes]
rs9382650	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9382653	0.81[EUR][1000 genomes]
rs9382654	0.80[EUR][1000 genomes]
rs9382658	0.84[EUR][1000 genomes]
rs9382659	0.81[EUR][1000 genomes]
rs9396224	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9396225	0.90[EUR][1000 genomes]
rs9396228	0.81[EUR][1000 genomes]
rs9475723	0.81[EUR][1000 genomes]
rs9689355	0.83[AMR][1000 genomes];0.88[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:56413800-56458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
4	chr6:56417200-56462000	Weak transcription	Lung	lung
5	chr6:56417200-56481400	Weak transcription	Esophagus	oesophagus
6	chr6:56420400-56457400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:56431400-56456800	Weak transcription	Right Ventricle	heart
8	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
9	chr6:56435600-56458000	Weak transcription	Fetal Brain Female	brain
10	chr6:56436400-56464800	Weak transcription	Fetal Brain Male	brain
11	chr6:56438200-56457800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:56438800-56458400	Weak transcription	HepG2	liver
13	chr6:56440800-56465800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
15	chr6:56441600-56465600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:56452600-56457400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:56452800-56457600	Strong transcription	NHDF-Ad	bronchial
20	chr6:56452800-56458800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:56452800-56459800	Strong transcription	Fetal Lung	lung
22	chr6:56452800-56469200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:56452800-56470000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:56452800-56476000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:56452800-56489400	Strong transcription	Liver	Liver
26	chr6:56453000-56457000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:56453000-56457000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:56453000-56457400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:56453000-56457400	Strong transcription	Left Ventricle	heart
30	chr6:56453000-56458400	Weak transcription	Fetal Kidney	kidney
31	chr6:56453000-56458600	Strong transcription	Osteobl	bone
32	chr6:56453000-56459600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:56453000-56460400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:56453000-56468800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:56453000-56469000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:56453000-56469000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:56453000-56469200	Strong transcription	Fetal Intestine Large	intestine
38	chr6:56453000-56469800	Strong transcription	NH-A	brain
39	chr6:56453000-56492000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:56453000-56502200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr6:56453000-56506800	Strong transcription	HSMM	muscle
42	chr6:56453200-56470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:56453400-56458600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:56453400-56469200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:56453400-56476200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:56453600-56457000	Strong transcription	HUVEC	blood vessel
47	chr6:56453600-56457400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:56453800-56460400	Strong transcription	A549	lung
49	chr6:56453800-56469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:56453800-56470800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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